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Monnin, Suzanne, and M. Rosita Schiller. "Nutrition counseling for breast cancer patients." Journal of the American Dietetic Association 93, no. 1 (January 1993): 72–73. http://dx.doi.org/10.1016/0002-8223(93)92136-l.
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Powell, C. Bethan, Ramey Littell, Elizabeth Hoodfar, Fiona Sinclair, and Alice Pressman. "Does the Diagnosis of Breast or Ovarian Cancer Trigger Referral to Genetic Counseling?" International Journal of Gynecologic Cancer 23, no. 3 (March 2013): 431–36. http://dx.doi.org/10.1097/igc.0b013e318280f2b4.
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ObjectiveKaiser Permanente Northern California is a large integrated health care delivery system in the United States that has guidelines for referring women with newly diagnosed BRCA1-and BRCA2-associated cancers for genetic counseling. This study assesses adherence to genetic counseling referral guidelines within this health system.MethodsChart review was performed to identify patients with cancer who met the following pathology-based Kaiser Permanente Northern California guidelines for referral for genetic counseling: invasive breast cancer, younger than age 40; nonmucinous epithelial ovarian, fallopian tube, or peritoneal cancer, younger than age 60; women with synchronous or metachronous primary cancers of the breast and ovaries; and male breast cancer. We assessed compliance with referral guidelines. An electronic notice was sent to the managing physician of patients with newly diagnosed cancer to assess the feasibility of this intervention.ResultsA total of 340 patients were identified with breast cancer at younger than age 40 or with ovarian, peritoneal, or tubal cancer between January and June, 2008. Upon chart review, 105 of these patients met pathology-based criteria for referral to genetic counseling, of whom 47 (45%) were referred within the 2-year study period. Of the 67 subjects with breast cancer, 40 subjects (60%) were referred. In contrast, only 7 (21%) of 33 patients with ovarian cancer were referred (P < 0.001). A pilot study was performed to test the feasibility of notifying managing oncologists with an electronic letter alerting them of eligibility for genetic referral of patients with new diagnosis (n = 21). In the 3 to 6 months after this notification, 12 of these 21 patients were referred for counseling including 5 of 7 patients with a diagnosis of ovarian cancer.ConclusionThere is a missed opportunity for referring patients to genetic counseling, especially among patients with ovarian cancer. A pilot study suggests that alerting treating physicians is a feasible strategy to increase appropriate referral.
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Kroupis, C., E. Lianidou, N. Goutas, S. Vasilaros, D. Yannoukakos, and M. B. Petersen. "Genetic counseling of medullary breast cancer patients." Clinical Genetics 65, no. 4 (March 12, 2004): 343–44. http://dx.doi.org/10.1111/j.1399-0004.2003.00231.x.
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Lee, Siwon, Amal Gedleh, Jessica A. Hill, Seemi Qaiser, Yvonne Umukunda, Philip Odiyo, Grace Kitonyi, and Helen Dimaras. "In Their Own Words: A Qualitative Study of Kenyan Breast Cancer Survivors’ Knowledge, Experiences, and Attitudes Regarding Breast Cancer Genetics." Journal of Global Oncology, no. 4 (December 2018): 1–9. http://dx.doi.org/10.1200/jgo.17.00061.
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Introduction Breast cancer ranks among the most common adult cancers in Kenya. Individuals with a family history of the disease are at increased risk. Mutations most commonly associated with breast cancer affect BRCA1 and BRCA2; mutations in several other genes may also confer breast cancer risk. Genetic testing and counseling can help patients understand their risk and assist clinicians in choosing therapies. We aimed to uncover what patients know, experience, and think with regard to breast cancer genetics in Kenya. Methods Participants included breast cancer survivors age > 18 years. Participants completed a demographic questionnaire before participating in focus group discussions to uncover knowledge of, experiences with, and attitudes toward the genetics of breast cancer. Data were analyzed by inductive thematic analysis. Results Four focus groups were conducted. Participants had rudimentary knowledge about genetics and cancer development, and although they understood breast cancer could be familial, many suspected environmental factors causing spontaneous disease. They reported limited experience with counseling about genetic risk, perceiving that their physicians were too busy to provide comprehensive information. Many indicated they promoted cancer screening among family to promote early diagnosis. Participants expressed a need for more comprehensive counseling and access to genetic testing, recognizing the added clarity it would bring to their families’ risk of cancer. Conclusion Improved communication from health care teams could clarify the risk of cancer for affected families. The introduction of affordable genetic testing and counseling for breast cancer in Kenya is welcomed by survivors.
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Selman, Carolina, Mabel Hurtado, Badir Chahuan, Fabiola Mella, and Hugo Marsiglia. "Prevalence of BRCA1 and BRCA 2 and other mutations in Chilean population." Journal of Clinical Oncology 38, no. 15_suppl (May 20, 2020): e13553-e13553. http://dx.doi.org/10.1200/jco.2020.38.15_suppl.e13553.
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e13553 Background: Arturo López Pérez Foundation (FALP) is a Chilean Institution aimed to treatment of cancer patients. Since 2016 it has an Unit for Oncological Genetic Counseling (AGO) for patients with warning flags of potential cases of cancer of genetic origin AGO Unit is aimed to capture patients with warning flags and deliver information through pre-test counseling, offer possibility of a genetic test and post-test counseling. The purpose of this review is to provide relevant results of four years of this Unit. Methods: A descriptive study was carried out from patient care in the Oncological Genetic Counseling Unit of FALP between 2016 and 2019. It was considered those cases in which the process of pretest/post-test counseling was performed. Six "warningflags" were established: cancer in patients under 50 years of age, triple negative breast cancer, breast cancer in men, ovarian cancer, history of 2 or more primary cancers and a family history of cancer The number of test performed was analyzed. The results were expressed in positive pathogenic variants, uncertain variants and negative results. Results: 365 genetic counseling processes were carried out during the period. The average consultation age was 43.2 years (20.8 and 75.5) and 90.1% (329 attentions ) were female. Of the patients, 79.7% (294) perform the genetic test. 18.5% tested positive for a pathogenic variant, 6.5% for a pathogenic variant plus an uncertain variable, and 2.8% for two pathogenic variants. The mutations found were BRCA2 32.6% BRCA1 29.1%, ATM 10.1% RAD51C 6.7% CDKN2 A 5.6%, MUTYH 3.4% TP53 3.4%, MSH2 3.4% RAD51D 2.4%), NF1 1.1%, NTHL1 1.1%, RET 1.1% A 64.9% (237 patients) had cancer diagnosed at the time of the consultation, versus 33.1% of healthy care. 2% had no information. The type of cancer present was 79.7% breast cancer (189), 8.0% ovarian cancer, 2.1% thyroid cancer, 1.7% breast and ovarian cancer, 0.9% colon and/or endometrial cancer and 7.6% other cancers. The warning flags present were 41.2% age below 50 years, 26.2% family history, 15.4% relatives of people with positive results, 8.5% patients with triple-negative breast cancer, 5.3% patients with ovarian cancer, 2.8% patients with 2 or more primary cancers, and 0.6% male breast cancer patients. Conclusions: The highest percentage of patient care was for women with breast cancer, under 50 years of age. The overall test positivity rate is a cumulative 29%. Mutations in BRCA 1 and BRCA 2 were the most detected mutations, as reported in the literature. The slight predominance of BRCA 2 may be due to a familiar component. This is the largest report made in the Chilean population.
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Scheuer, Lauren, Noah Kauff, Mark Robson, Bridget Kelly, Richard Barakat, Jaya Satagopan, Nathan Ellis, et al. "Outcome of Preventive Surgery and Screening for Breast and Ovarian Cancer in BRCA Mutation Carriers." Journal of Clinical Oncology 20, no. 5 (March 1, 2002): 1260–68. http://dx.doi.org/10.1200/jco.2002.20.5.1260.
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PURPOSE: To prospectively determine the impact of genetic counseling and testing on risk-reduction strategies and cancer incidence in a cohort of individuals at hereditary risk for breast and ovarian cancer. PATIENTS AND METHODS: Two hundred fifty-one individuals with BRCA mutations were identified at a single comprehensive cancer center from May 1, 1995, through October 31, 2000. Uniform recommendations regarding screening and preventive surgery were provided in the context of genetic counseling. Patients were followed for a mean of 24.8 months (range, 1.6 to 66.0 months) using standardized questionnaires, chart reviews, and contact with primary physicians. RESULTS: Frequency of cancer surveillance by physical examinations and imaging studies increased after genetic counseling and testing. Twenty-one breast, ovarian, primary peritoneal, or fallopian tube cancers were detected after receipt of genetic test results. Among 29 individuals choosing risk-reducing mastectomy after testing, two were found to have occult intraductal breast cancers. Among 90 individuals who underwent risk-reducing salpingo-oophorectomy, one early-stage ovarian neoplasm and one early-stage fallopian tube neoplasm were found. Radiographic or tumor marker–based screening detected six breast cancers, five of which were stage 0/I, one early-stage primary peritoneal cancer, and three stage I or II ovarian cancers. Six additional breast cancers were detected by physical examination between radiographic screening intervals; four of these six tumors were stage I. No stage III or stage IV malignancies were detected after genetic testing. CONCLUSION: This study provides prospective evidence that genetic counseling and testing increased surveillance and led to risk-reducing operations, which resulted in diagnosis of early-stage tumors in patients with BRCA1 and BRCA2 mutations.
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Cohen, Stephanie A., and Dawn Nixon. "Abstract P2-09-18: Use of navigators to identify breast cancer patients for genetic counseling and testing: A quality improvement project." Cancer Research 82, no. 4_Supplement (February 15, 2022): P2–09–18—P2–09–18. http://dx.doi.org/10.1158/1538-7445.sabcs21-p2-09-18.
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Abstract The value of genetic counseling and testing to cancer prevention, early detection, and treatment options to ensure optimal outcomes is widely acknowledged by providers, payers and patients. However, many individuals who should receive genetic counseling are never offered this service. All patients with early onset (<=age 45), triple negative (<=60) and metastatic HER2 negative breast cancer should be offered genetic counseling and testing (GC/GT) per National Comprehensive Cancer Network guidelines. A quality improvement project to actively identify and offer genetic counseling to all women with early onset, triple negative and metastatic breast cancer was implemented.Baseline information on the number of early onset (<=45), triple negative and metastatic HER2 negative breast cancers diagnosed January 2018-June 2019 was collected and cross-referenced with the Cancer Genetics Risk Assessment patient database and the electronic health record (EHR) to see how many had GC/GT in our department or the breast surgeons’ office. We developed questions for an electronic screening tool used by the navigation team when meeting with patients for the first time, screening for personal or family history criteria that would flag patients at increased risk for hereditary cancer. If any questions were flagged, the patient was asked by the navigator if they would be interested in a genetic counseling appointment to consider genetic testing. Training was provided to the navigation team so that they could answer basic questions, bi-weekly meetings were set up to discuss patients, and a flier and informational videos were made available to patients who wanted more information about GC/GT. If a patient was agreeable to genetic counseling, an automated email was triggered to the genetics team, who contacted the patient for an appointment. A standing order was obtained from willing breast surgeons and oncologists within our network to streamline the referral process. In the 18-month baseline period, there were 126 patients diagnosed with early onset, 36 with triple negative <=60 and 30 with metastatic HER2 negative breast cancer. Of these, 57.1% of early onset, 66.7% triple negative and 3.3% of those with metastatic breast cancer had documentation of GC/GT. A paper screening tool was implemented in July 2019 with implementation of an electronic version in November 2019. In the 18-month intervention period, there were 100 patients diagnosed with early onset, 39 with triple negative and 22 patients with metastatic breast cancer. Of these, 86% of early onset, 87.2% of triple negative and 31.8% of metastatic breast cancer patients had documented GC/GT.A limitation of this project is that some patients leave the system to be treated elsewhere after diagnosis and some may have been tested in their private practitioner’s office that does not connect with our EHR. Additionally, some may have been offered GC/GT but declined or were unwilling/unable to complete an appointment. Finally, the pandemic likely had an impact on this project, since fewer women were undergoing mammography screening due to COVID-19 restrictions, resulting in fewer diagnoses of breast cancer. By leveraging the navigation team’s interaction with breast cancer patients, we were able to improve identification and referral of more patients with early onset, triple negative <=60 and metastatic HER2 negative breast cancer for GC/GT. One barrier to genetic counseling that has been previously identified is a lack of physician referral. Active engagement with a breast navigator can circumvent this barrier. De-identified aggregate data from this quality improvement project was shared with the Association for Community Cancer Centers as part of a larger project, supported by a grant from Pfizer. Citation Format: Stephanie A. Cohen, Dawn Nixon. Use of navigators to identify breast cancer patients for genetic counseling and testing: A quality improvement project [abstract]. In: Proceedings of the 2021 San Antonio Breast Cancer Symposium; 2021 Dec 7-10; San Antonio, TX. Philadelphia (PA): AACR; Cancer Res 2022;82(4 Suppl):Abstract nr P2-09-18.
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Szender, J. Brian, Jasmine Kaur, Katherine Clayback, Mollie L. Hutton, June Mikkelson, Kunle Odunsi, and Cara Dresbold. "Breadth of Genetic Testing Selected by Patients at Risk of Hereditary Breast and Ovarian Cancer." International Journal of Gynecologic Cancer 28, no. 1 (January 2018): 26–33. http://dx.doi.org/10.1097/igc.0000000000001122.
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ObjectiveThe aim of this study was to evaluate the ability of patients at risk of hereditary breast and ovarian cancer (HBOC) syndrome to select the extent of genetic testing personally preferred and the impact of demographic factors on the breadth of testing pursued.MethodsA single-institution cohort was enumerated consisting of patients referred for clinical genetic counseling secondary to risk of HBOC syndrome. This was a retrospective study of consecutive patients seen for genetic counseling; all patients completed an epidemiologic questionnaire and provided personal and family medical histories. Patients meeting guidelines for testing were offered testing at 3 levels: single gene/condition (Single), small panels with highly penetrant genes (Plus), and large panels with high and moderately penetrant genes (Next). Associations between personal or family-related factors and breadth of testing selected were investigated. Continuous and categorical variables were compared using Student t and χ2 tests, as appropriate. Joint classification tables were used to test for effect modification, and a log-binomial model was used to compute rate ratios (RR) with a threshold of P < 0.05 considered significant.ResultsWe identified 253 patients who underwent genetic counseling for HBOC syndrome. Most patients were personally affected by cancer (63.6%), reported at least some college (79.2%), met the National Comprehensive Cancer Network guidelines for BRCA testing (94.5%), and opted to undergo genetic testing (94.1%). Most (84.9%) patients opted for panel testing. An increased likelihood of choosing Next-level testing was found to be associated with patients having any college experience (RR, 1.53; 95% confidence interval, 1.02–2.30), as well as being unaffected by cancer (RR, 1.30; 95% confidence interval, 1.03–1.64).ConclusionsClinical genetic counseling is a highly specialized service, which should be provided to patients at risk of hereditary cancer syndromes. Although some epidemiologic factors can predict a patient's preference for testing breadth, patients were sufficiently able to self-identify the level of testing they were comfortable with after receiving genetic counseling. Most practitioners do not have the time or expertise to provide the degree of counseling needed to enable and empower patients to choose the level of testing they are comfortable with. When available, referral to genetic counselors remains an important component of comprehensive care for women with a personal or family history of cancer suggestive of hereditary risk.
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Neviere, Zoé, Thibault De La Motte Rouge, Anne Floquet, Alison Johnson, Pascaline Berthet, and Florence Joly. "How and when to refer patients for oncogenetic counseling in the era of PARP inhibitors." Therapeutic Advances in Medical Oncology 12 (January 2020): 175883591989753. http://dx.doi.org/10.1177/1758835919897530.
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Poly(ADP-ribose)polymerase (PARP) inhibitors are targeted therapy for cancers with homologous repair deficiency (HRD). They were first approved for ovarian cancer and have changed current treatment strategies. They have also demonstrated efficacy in HER2-negative metastatic breast cancer and advanced prostate cancer with BRCA1/2 or ATM mutations. Patients with somatic and/or germline BRCA1/2 mutations benefit more from these treatments than other patients. Nowadays, the diagnosis of HRD is largely based on germline genetic testing, which is performed after an in-person genetic counseling session, even for patients without any family history of cancer. However, with the increasing number of PARP inhibitor indications across different tumor types, rapid access to oncogenetic consultations will become a challenge. To meet this demand, tumor genomic testing could be offered at initial diagnosis. Telephone counseling and other referral systems could replace in-person consultations for certain subgroups of patients deemed to have a low risk of harboring a germline mutation. This article reviews international guidelines for genetic counseling testing. We herein propose new care pathways for breast, prostate and ovarian cancers, including tumor genomic testing at initial diagnosis in order to help triage genetic counseling referrals.
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Brown, Jubilee, Aly Athens, David L. Tait, Erin K. Crane, Robert V. Higgins, R. Wendel Naumann, Lejla Hadzikadic Gusic, and Lisa Amacker-North. "A Comprehensive Program Enabling Effective Delivery of Regional Genetic Counseling." International Journal of Gynecologic Cancer 28, no. 5 (June 2018): 996–1002. http://dx.doi.org/10.1097/igc.0000000000001256.
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ObjectivesThe aim of this study was to demonstrate the utility of a comprehensive program involving management-based evidence, telemedicine, and patient navigation to provide genetic counseling services for patients with ovarian and breast cancer across a geographically large health care system.MethodsWe identified all patients with newly diagnosed ovarian and breast cancer in our health care system from January 2013 to December 2015 through the cancer registry. Referral characteristics and testing outcomes were recorded for each year and compared using the χ2 or Fisher exact test.ResultsBecause the implementation of this program, the number of new ovarian cancer cases remained constant (109–112 cases/year) but patients referred for genetic counseling increased annually from 37% to 43% to 96% (P < 0.05). The percentage of ovarian cancer patients who underwent genetic testing increased annually from 24% to 27% to 53% (P < 0.05). The number of new breast cancer patients was constant (1543–1638 cases/year). The percentage of patients with triple negative breast cancer referred for genetic counseling rose from 69% in 2013 to 91% in 2015; the percentage of patients who underwent testing increased annually from 59% to 86% (P < 0.05). Of women with breast cancer diagnosed at less than 45 years of age, 78% to 85% were referred for genetic counseling across this period; the percentage of patients who underwent testing increased annually from 66% to 82% (P < 0.05). Patient navigation was initiated and was available to all patients in the system during this period. Telemedicine consults were performed in 118 breast/ovarian patients (6%) during this period.ConclusionsA comprehensive program may improve access to effective genetic counseling services in patients with ovarian and breast cancer despite geographic barriers.
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Kong, Sunga, Jae Kyung Lee, Danbee Kang, Nayeon Kim, Young Mog Shim, Won Park, Dooho Choi, and Juhee Cho. "Comparing the Effectiveness of a Wearable Activity Tracker in Addition to Counseling and Counseling Only to Reinforce Leisure-Time Physical Activity among Breast Cancer Patients: A Randomized Controlled Trial." Cancers 13, no. 11 (May 30, 2021): 2692. http://dx.doi.org/10.3390/cancers13112692.
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This randomized controlled trial aimed to compare the effectiveness of a wearable activity tracker (WAT) in addition to counseling (WAT+counseling) and counseling only for reinforcing leisure-time physical activity (LTPA) among breast cancer patients during radiotherapy (RT). A total of 152 breast cancer patients who were planning to undergo radiation therapy (RT) after surgery participated in the study. The WAT+counseling group (n = 76) underwent physical activity (PA) self-monitoring using a WAT and participated in counseling. The counseling-only group (n = 76) received telephone counseling once a week during RT and did not receive WAT. The WAT+counseling group had increased relative change in self-reported LTPA (102.8) compared with the counseling-only group (57.8) immediately after RT compared to baseline. Although the relative changes of self-reported LTPA of the WAT+counseling group were higher at three and six months after the end of RT compared to in the counseling-only group, the results were not significant. The mean average daily step count of the WAT+counseling group was 9351.7, which increased to 11,592.2 during RT and 12,240.1 after RT. In the subgroup analysis, patients who did not perform regular PA before cancer diagnosis had significantly increased step counts. This study shows the feasibility of WAT with counseling to reinforce PA among breast cancer patients.
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Kochheiser, Makayla L., Toyin I. G. Aniagwu, Prisca O. Adejumo, and Olufunmilayo I. Olopade. "Genetic Testing for Cancer Risk Assessment in Patients With Breast and Ovarian Cancer in Ibadan, Nigeria." Journal of Global Oncology 5, Supplement_1 (October 2019): 4. http://dx.doi.org/10.1200/jgo.19.13000.
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PURPOSE Breast cancer is the leading cause of cancer-related death among women, and ovarian cancer has the highest case fatality rate of all gynecologic cancers. In Nigeria, approximately 80% of breast and ovarian cancer cases are diagnosed at advanced stages. Genetic testing has the potential to reduce the morbidity and mortality associated with late cancer diagnosis. The introduction of genetic testing for cancer risk assessment at University College Hospital (UCH), Ibadan will serve as a model for the rest of Nigeria. The objective of this study was to introduce genetic testing for cancer risk assessment in patients with breast and ovarian cancer in Ibadan, Nigeria and to determine the demographics of women undergoing testing and their perceptions concerning the benefits of and barriers to genetic testing. METHODS Patients with breast or ovarian cancer were recruited at UCH. All patients received genetic counseling and had the opportunity to consent to the Color Genomics Hereditary Cancer Panel Test, free of charge, after due ethical approval. Patients were tested for 30 gene mutations with known associations to eight hereditary cancers. After testing, patients completed a semistandardized questionnaire assessing their sociodemographic information, family cancer history, and perceived benefits and barriers to genetic testing. RESULTS Seven patients with ovarian cancer and 40 patients with breast cancer received genetic counseling, and all chose to undergo subsequent genetic testing. The average age at testing was 49 years, and the average age at cancer diagnosis was 47 years. Eight women reported a known family cancer history, and there were more perceived benefits than barriers to genetic testing. The genetic test results revealed 27 negative mutations, 16 variants of unknown significance, and four pathogenic mutations. CONCLUSION Patients with breast and ovarian cancer at UCH associate genetic testing with benefits for their care. These results suggest potential for growth and sustainability of genetic testing for cancer risk management in Nigeria.
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Bregar, Amy J., Terri Febbraro, Katina Robison, Jennifer Scalia Wilbur, Jessica Kent Laprise, Vrishali Lopes, Robert Duffy Legare, and Ashley Stuckey. "Timing of referral to genetic counseling among women with gynecologic or breast cancer." Journal of Clinical Oncology 31, no. 15_suppl (May 20, 2013): 1545. http://dx.doi.org/10.1200/jco.2013.31.15_suppl.1545.
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1545 Background: The National Comprehensive Cancer Network (NCCN) has established guidelines delineating appropriate candidates for genetic counseling. While genetic predisposition is responsible for a small percentage of cancer, genetic referral at diagnosis may effect treatment decisions. We aim to determine factors associated with timing of referral in women with breast and gynecologic cancers. Methods: Patients from an academic women’s oncology program were identified who met a subset of NCCN referral criteria for genetic evaluation between 2004-2010 (ovarian cancer at any age, breast cancer ≤ 50 years of age, or uterine cancer < 50 years of age). A retrospective chart review was conducted. Statistics were analyzed using SAS v. 9.2 (SAS Institute, Cary, NC); categorical variables were compared by chi-square or Fisher's exact test and continuous variables were compared by ANOVA. The study was approved by the hospital Institutional Review Board. Results: 820 women with cancer (26% uterine, 38% breast, 35% ovarian) were included. The overall referral rate was 22%; more breast than gynecologic cancer patients were referred (34% vs. 28%, p<0.0001). Breast cancer patients were more often referred at diagnosis compared to women with uterine (p<0.0001) and ovarian cancer (p=0.007). Early stage breast cancer patients were more often referred at diagnosis compared to women with late stages (p=0.03). Among ovarian cancer patients, those with late stages were more often referred at diagnosis compared to women with early stages (p=0.02). Age at diagnosis, family history, and parity were not associated with timing of referral. Among women with breast cancer, 26% of referred patients had a prophylactic contralateral mastectomy compared to 8% of those not referred (p<0.0001). Conclusions: Genetic counseling is underutilized in breast and gynecologic malignancies. The timing of referral varies widely and genetic counseling may impact treatment decisions. Breast cancer diagnosis, early stage breast cancer, and late stage ovarian cancer are associated with earlier referral for genetic evaluation. Further research is needed to determine additional factors that may increase referral rates and impact timing of referral.
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Maudgal, S. "Patient Engagement for Metastatic Breast Cancer Patients: WhatsApp Counseling." Journal of Global Oncology 4, Supplement 2 (October 1, 2018): 114s. http://dx.doi.org/10.1200/jgo.18.13700.
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Background: Breast cancer accounts for 1/4th of all female cancers in India. Lack of awareness, poor diagnostic facilities, low priority for women's health cause late stage presentation. Younger average age, aggressive disease, incomplete or abandoned treatment, results in large numbers of metastatic breast cancer cases (MBC). Most people have smartphones and access to the Internet. We have created a WhatsApp based counseling program where patients can be active or passive while benefiting from others’ experiences. Aim: MBC patients cannot share their fears and innermost feelings with family members. It is therefore beneficial to create a secure, nonjudgmental, empathetic group having personal experiences and knowledge about MBC. Such interactions reduce social isolation, promote hope and optimism about the future. Methods: Doctors, social workers, nurses and administrators at 5 hospitals provided phone numbers of MBC patients who were invited to join. Groups of 6-10 women were created. A 14 week program was created alternating interventions for physical and psychological problems. Results: 50% patients contacted refused to participate. They had no desire to interact with others, had sufficient information, wanted to maintain secrecy. Some joined but left due to negative comments posted by a participant. Confidentiality could not be guaranteed since software can determine phone owners' identity. Participants were given rules, but there were many infractions. Positive outcomes: Information on healthy lifestyles, yoga, inspirational and spiritual messages, recipes, fashion, makeup tips, prostheses suppliers; music, books, movies, articles from newspapers, journals, information about workshops, seminars, meetings were shared. Inputs from physiotherapists, dieticians, CBT intervention from counselors was valued. Members were reminded about exercise and care of affected arm. Financial issues, sexual problems, advice on reconstruction were some beneficial topics. Patients arranged and enjoyed physical meetings. Negative outcomes: Patients posted information on unproven cures, personal comments about doctors. Patients on treatment asked questions better directed to their doctor. One patient asked for funds. Postings through the night disturbed those who had not muted the conversation. Irrelevant forward, videos and generic messages were a distraction. Much tact was required to prevent degeneration of the conversation. Loss of a group member was a setback for all members. Conclusion: The role of a counselor has changed greatly in recent times. Side effects are minimized, hair loss is less traumatic and patients find information on the Internet. Greater acceptance, lesser stigma means that support groups are not seen to be essential. The WhatsApp group replaced physical meetings. Women with MBC experience trauma due to physical symptoms, psychological and spiritual distress. The group allowed them to share problems with other women in similar situations.
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Darooei, Mina, Subhadra Poornima, Bibi Umae Salma, Gayatri R. Iyer, Akhilesh N. Pujar, Srirambhatla Annapurna, Ashwin Shah, Srinivas Maddali, and Qurratulain Hasan. "Pedigree and BRCA gene analysis in breast cancer patients to identify hereditary breast and ovarian cancer syndrome to prevent morbidity and mortality of disease in Indian population." Tumor Biology 39, no. 2 (February 2017): 101042831769430. http://dx.doi.org/10.1177/1010428317694303.
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Global burden of breast cancer is expected to increase to >2 million new cases every year by 2030 and 10% of these are likely to have hereditary breast and ovarian cancer syndrome. Identifying these individuals by pedigree and BRCA1/2 mutation analyses will enable us to offer targeted mutation testing and appropriate counseling. This study from a tertiary care hospital showed that of the 127 breast cancer patients on treatment during 2014–2015, 24 of them fulfilled the criteria of hereditary breast and ovarian cancer syndrome after detailed verbal autopsy and pedigree analysis, and BRCA1 and 2 next-generation sequencing done after pre-test counseling revealed mutations in 13 cases (54%), these included 9 BRCA1 mutations (69%) and 4 BRCA2 mutation (31%). Subsequent post-test counseling recommended targeted mutation analysis for 64 high-risk members in these 13 families with pathogenic mutations, which will help in surveillance for early detection, appropriate management, and prevention of the disease by decreasing the burden to both family and nation. Results from this preliminary study highlight the importance of genetic counseling, pedigree analysis, and genetic testing. It can be recommended that all oncology units should have a genetic counseling service for providing appropriate support to oncologists, patients, and families to prevent unnecessary testing; however, breast cancer screening program is incomplete without evaluating for hereditary breast and ovarian cancer syndrome.
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Kufel-Grabowska, Joanna, Amira Podolak, Daniel Maliszewski, Mikołaj Bartoszkiewicz, Rodryg Ramlau, and Krzysztof Lukaszuk. "Fertility Counseling in BRCA1/2-Mutated Women with Breast Cancer and Healthy Individuals." Journal of Clinical Medicine 11, no. 14 (July 10, 2022): 3996. http://dx.doi.org/10.3390/jcm11143996.
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Breast cancer is the most commonly diagnosed cancer worldwide and the fifth leading cause of cancer death. In 2020, there were 2.3 million new cases, and 685,000 women died from it. Breast cancer among young women under 40 years of age accounts for 5% to 10% of all cases of this cancer. The greater availability of multi-gene sequence analysis by next-generation sequencing has improved diagnosis and, consequently, the possibility of using appropriate therapeutic approaches in BRCA1/2 gene mutation carriers. Treatment of young breast cancer patients affects their reproductive potential by reducing ovarian reserve. It can lead to reversible or permanent premature menopause, decreased libido, and other symptoms of sex hormone deficiency. This requires that, in addition to oncological treatment, patients are offered genetic counseling, oncofertility, psychological assistance, and sexological counseling. Given the number of BRCA1/2 gene mutation carriers among young breast cancer patients, but also thanks to growing public awareness, among their healthy family members planning offspring, the possibility of benefiting from preimplantation testing and performing cancer-risk-reduction procedures: RRM (risk-reducing mastectomy) and RRSO (risk-reducing salpingo-oophorectomy) significantly increase the chance of a genetically burdened person living a healthy life and giving birth to a child not burdened by the parent’s germline mutation. The goal of this paper is to show methods and examples of fertility counselling for BRCA1/2 gene mutation carriers, including both patients already affected by cancer and healthy individuals.
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Schwartz, Marc D., Caryn Lerman, Barbara Brogan, Beth N. Peshkin, Chanita Hughes Halbert, Tiffani DeMarco, William Lawrence, et al. "Impact ofBRCA1/BRCA2Counseling and Testing on Newly Diagnosed Breast Cancer Patients." Journal of Clinical Oncology 22, no. 10 (May 15, 2004): 1823–29. http://dx.doi.org/10.1200/jco.2004.04.086.
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PurposeApproximately 5% to 10% of newly diagnosed breast cancer patients carry a BRCA1 or BRCA2 mutation. Given these patients' high risk for contralateral breast cancer, bilateral mastectomy is increasingly considered a treatment option for newly diagnosed BRCA1/2 carriers. In the present study, we prospectively evaluated the impact on surgical decision-making of pretreatment genetic counseling and BRCA1/BRCA2 testing among breast cancer patients at high-risk for carrying a mutation.Patients and MethodsParticipants were 194 newly diagnosed breast cancer patients who had not yet received definitive surgical treatment and who had at least a 10% prior probability of carrying a BRCA1/2 mutation. Participants were offered free genetic counseling and rapid BRCA1/2 testing. Primary analyses focused on the impact of BRCA1/2 test result on subsequent breast cancer surgical treatment.ResultsForty-eight percent of patients who were found to carry a BRCA1/2 mutation chose bilateral mastectomy as their definitive breast cancer surgery. In contrast, 24% of patients in whom no mutation was detected and 4% of test decliners opted for bilateral mastectomy. Additional predictors of bilateral mastectomy included patients' self-reports of physician recommendations for BRCA1/2 testing and bilateral mastectomy.ConclusionThis study highlights patient interest in and the technical feasibility of offering presurgery BRCA1/2 testing to high-risk patients. Most importantly, these results demonstrate that BRCA1/2 test results significantly affect patients' surgical decision-making. The availability of genetic counseling and testing could serve as a valuable aid to patient decision-making for newly diagnosed breast cancer patients at high-risk for carrying a mutation.
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Lynch, Henry T., Carrie L. Snyder, Jane F. Lynch, Bronson D. Riley, and Wendy S. Rubinstein. "Hereditary Breast-Ovarian Cancer at the Bedside: Role of the Medical Oncologist." Journal of Clinical Oncology 21, no. 4 (February 15, 2003): 740–53. http://dx.doi.org/10.1200/jco.2003.05.096.
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Purpose: To provide practical considerations for diagnosing, counseling, and managing patients at high risk for hereditary breast cancer. Design: We have studied 98 extended hereditary breast cancer (HBC)/hereditary breast-ovarian cancer (HBOC) families with BRCA1/2 germline mutations. From these families, 1,315 individuals were counseled and sampled for DNA testing. Herein, 716 of these individuals received their DNA test results in concert with genetic counseling. Several challenging pedigrees were selected from Creighton University’s hereditary cancer family registry, as well as one family from Evanston/Northwestern Healthcare, to be discussed in this present report. Results: Many obstacles were identified in diagnosis, counseling, and managing patients at high risk for HBC/HBOC. These obstacles were early noncancer death of key relatives, perception of insurance or employment discrimination, fear, anxiety, apprehension, reduced gene penetrance, and poor compliance. Other important issues such as physician culpability and malpractice implications for failure to collect or act on the cancer family history were identified. Conclusion: When clinical gene testing emerged for BRCA1 and BRCA2, little was known about the efficacy of medical interventions. Potential barriers to uptake of testing were largely unexplored. Identification and referral of high-risk patients and families to genetic counseling can greatly enhance the care of the population at the highest risk for cancer. However, because premonitory physical stigmata are absent in most of these syndromes, an HBOC diagnosis may be missed unless a careful family history of cancer of the breast, ovary, or several integrally associated cancers is obtained.
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Chauhan, Preeti, Arockia M. Babu, Palki sahib kaur, and vikas Menon. "Hereditary Breast Cancer: A Systematic Review." CGC International Journal of Contemporary Technology and Research 2, no. 1 (December 30, 2019): 48–52. http://dx.doi.org/10.46860/cgcijctr/2019.12.30.48.
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Breast cancer is a heterogeneous group of tumours with variable prognosis. It is the second leading cause of cancer related death among women.Hereditary breast cancers (HBC) showed around ten percent of the total burden of breast cancer. Most of the breast cancer cases found due to a BRCA germ line mutation. According to estimation, 15–20% breast cancer patients to have one or more 1st or 2nd degree relatives affected with breast cancer. The factors included the genotypic and phenotypic heterogeneity. Many studies found association of HBC with different carcinoma syndromes. The most common association is with ovarian carcinoma so known as hereditary breast ovarian (BO) carcinoma syndrome involving BRCA1 and 2 mutations. Some other factors like reproductive risk factors including age at diagnosis of breast cancer, pregnancy history, and twin history were also studied and were found associated with breast cancer risk. In this review it is reported that knowledge of genetics of hereditary breast cancers may contribute to identification of patient’s increased risk of disease. These patients could be subjected to genetic counseling that can be definitely benefited from early diagnosis.
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Brunet, Jennifer, Catherine M. Sabiston, and Sarkis Meterissian. "Physical Activity and Breast Cancer Survivorship." American Journal of Lifestyle Medicine 6, no. 3 (December 1, 2011): 224–40. http://dx.doi.org/10.1177/1559827611421460.
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The completion of primary treatment for breast cancer has been referred to as a “teachable moment” for health behavior change, suggesting that women are receptive to receiving physical activity counseling. However, the majority of breast cancer survivors are not sufficiently active. Health care providers may play a pivotal role in increasing patients’ physical activity behavior, yet physician counseling for physical activity is not done regularly. One reason for this failure may relate to the limited guidelines put forward to assist health care providers in how best to optimize the benefits of physical activity among breast cancer survivors. To help provide guidelines for physical activity counseling with breast cancer survivors, the authors synthesized evidence-based recommendations based on a review of 30 intervention studies. The evidence on (1) type, (2) intensity, and (3) frequency and duration of physical activity for this population was examined. On the basis of the reviewed studies, the authors find that physical activity programs for breast cancer survivors should include aerobic training at least 3 times/wk for 30 minutes, resistance training 2 to 3 times/wk (6-12 exercises), and flexibility training 3 times/wk for 50 to 60 minutes to obtain health benefits. The provision of these recommendations may facilitate effective and consistent delivery of physical activity counseling to breast cancer survivors.
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Trosman, Julia R., Christine B. Weldon, Danielle Dupuy, Betty Roggenkamp, Pamela Ganschow, Julian C. Schink, and Anne Marie Murphy. "Why do breast cancer programs fail to refer patients to genetic counseling upon obtaining family history?" Journal of Clinical Oncology 30, no. 15_suppl (May 20, 2012): 1553. http://dx.doi.org/10.1200/jco.2012.30.15_suppl.1553.
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1553 Background: Women with personal or family history suggestive of susceptibility to hereditary breast or ovarian cancer should be referred to genetic counseling (US Preventive Services Task Force, Ann Intern Med. 2005). Our goal is to examine whether this guideline is followed by breast cancer programs providing screening and treatment in a large urban area; and if not followed, why. Funded by Susan G. Komen for the Cure. Methods: Using the framework approach of qualitative research, we conducted interviews with 130 providers of breast cancer screening and treatment at 26 institutions in Chicago (18 community, 4 academic and 4 public hospitals). We interviewed radiologists, mammography technologists, nurses, surgeons, oncologists, internists, and patient navigators. Interviews were transcribed and coded; theme analysis was conducted; simple frequencies and Fisher's exact test were calculated. Results: While all 26 programs collect patient personal and family history, only one program has both a protocol for referral to genetic counseling and a genetic counseling service. All six interviewees from that program (6/130, 5%) report referring appropriate patients to genetic counseling, compared to none from other programs (p<0.0001). 90% of interviewees (118/130) did not perceive any role in raising patient awareness or referring them to genetic counseling. Among the 124 interviewees not referring to genetic counseling, 51 (41%) have genetic counseling available, but only 12% (6/51) of them view referring or making patients aware of genetic services as their responsibility; while none of the interviewees without genetic counseling services view this their responsibility (p<0.0001). None of the interviewees noted reimbursement of genetic counseling as a barrier to referral. Conclusions: The lack of accountability by care providers is a barrier to referring patients with personal or family history of breast or ovarian cancer to genetic counseling, even when the service is available. A comprehensive approach addressing access to genetic counseling, adoption of referral protocols and clear assignment of referral responsibilities is needed to ensure that women appropriately receive genetic assessment.
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Adejumo, Prisca, Toyin Aniagwu, Abimbola Oluwatosin, Omolara Fagbenle, Olubunmi Ajayi, Dasola Ogungbade, Adeyoola Oluwamotemi, et al. "Knowledge of Genetic Counseling Among Patients With Breast Cancer and Their Relatives at a Nigerian Teaching Hospital." Journal of Global Oncology, no. 4 (December 2018): 1–8. http://dx.doi.org/10.1200/jgo.17.00158.
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Breast cancer prevalence continues to increase globally, and a significant proportion of the disease has been linked to genetic susceptibility. As we enter the era of precision medicine, genetics knowledge and skills are increasingly essential for achieving optimal cancer prevention and care. However, in Nigeria, patients with breast cancer and their relatives are less knowledgeable about genetic susceptibility to chronic diseases. This pilot study collected qualitative data during in-depth interviews with 21 participants. Of these, 19 participants were patients with breast cancer and two were relatives of patients with breast cancer. Participants were asked questions regarding their knowledge of breast cancer, views on heredity and breast cancer, and views on genetic counseling. Participants’ family histories were used as a basis with which to assess their hereditary risk of breast cancer. Participant responses were audio recorded and transcribed manually. The study evaluated patients’ and relatives’ knowledge of genetic counseling and the use of family history for the assessment of familial risk of breast cancer. This will serve as a guide to the processes of establishing a cancer risk assessment clinic.
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Laptiev, S. A., M. A. Korzhenevskaia, A. P. Sokolenko, A. G. Iyevleva, and E. N. Imyanitov. "MEDICAL AND GENETIC COUNSELING OF HEREDITARY BREAST AND OVARIAN CANCER." Scientific Notes of the I. P. Pavlov St. Petersburg State Medical University 25, no. 2 (September 5, 2018): 7–18. http://dx.doi.org/10.24884/1607-4181-2018-25-2-7-18.
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Hereditary breast and ovarian cancer is one of the most common genetic pathology. Medical and genetic counseling of patients with hereditary breast and ovarian cancer and their families plays the important role in cancer care, as it helps to develop the set of diagnostic, preventive and therapeutic measures aimed at monitoring healthy individuals and to create personalized approaches to the treatment of patients.
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Arecco, Luca, Marta Perachino, Alessandra Damassi, Maria Maddalena Latocca, Davide Soldato, Giacomo Vallome, Francesca Parisi, et al. "Burning Questions in the Oncofertility Counseling of Young Breast Cancer Patients." Breast Cancer: Basic and Clinical Research 14 (January 2020): 117822342095417. http://dx.doi.org/10.1177/1178223420954179.
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The improved prognosis of breast cancer patients makes survivorship issues an area of crucial importance. In this regard, an increased attention is needed toward the development of potential anticancer treatment-related long-term side-effects, including gonadal failure and infertility in young women. Therefore, fertility preservation and family planning are crucial issues to be addressed in all young women of reproductive age with newly diagnosed cancer. Despite a growing availability of data on the efficacy and safety of fertility preservation options and the fact that conceiving after prior history of breast cancer has become more accepted over time, there are still several gray zones in this field so that many physicians remain uncomfortable to deal with these topics. The purpose of this review is to answer some of the most controversial questions frequently asked by patients during their oncofertility counseling, in order to provide a detailed and up-to-date overview on the evidence available in this field to physicians involved in the care of young women with breast cancer.
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Kort, Jonathan David, Kira Seiger, Solomon Henry, and Lynn Westphal. "Referral trends for reproductive-age patients with breast cancer to a reproductive endocrinology clinic for fertility preservation counseling between 2004 and 2012." Journal of Clinical Oncology 31, no. 26_suppl (September 10, 2013): 129. http://dx.doi.org/10.1200/jco.2013.31.26_suppl.129.
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129 Background: As of October 2012, both embryo and oocyte cryopreservation are considered non-experimental fertility preservation (FP) options for cancer patients facing potentially gonadotoxic therapy. This study aims to assess the historical referral frequency of reproductive aged breast cancer patients from a major cancer center to an associated reproductive endocrinology and infertility (REI) clinic for counseling regarding FP and also assess how frequently these patients underwent FP after referral. Methods: Using the Stanford Cancer Center Research Database in conjunction with our EMR, a query was made for patients of reproductive age (13-45) who were seen at the Stanford Cancer Center for a new breast cancer diagnosis between 2004 and 2012. These patients’ records were then searched for referral encounters in the REI department. Those who were seen by REI were assessed for having undergone FP via embryo or oocyte cryopreservation prior to starting chemotherapy. Results: 420 women, ages 20 to 45, were seen at our cancer center for a new diagnosis of breast cancer between 2004 and 2012. Sixty (14.3%) of these patients, ages 20 to 42 at diagnosis, were referred to the REI department for FP counseling. Patients who were referred for FP counseling were 5.1 years younger at diagnosis than those who were not (p<.005). Of those referred, 33.3% underwent FP with embryo (77%) or oocyte cryopreservation (23%) under an experimental protocol. Among breast cancer patients ≤35 years old, 35% were referred to our REI department for FP counseling and 53.5% of those referred underwent FP. Conclusions: Despite advances in FP technology, the majority of reproductive aged breast cancer patients are still not referred for FP counseling by a reproductive endocrinologist. This trend was also seen among patients younger than 35—a subgroup who is more likely to undergo and benefit most from FP. This study does not reflect patients who decline this opportunity or seek FP elsewhere, however additional study and outreach is needed to improve referral rates, which are now a measure of the Quality Oncology Practice Initiative (QOPI).
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Ebrahimi, E., E. Sellars, R. Shirkoohi, I. Harirchi, R. Ghiasvand, E. Mohebbi, K. Zendehdel, and M. R. Akbari. "NGS-Based BRCA1, BRCA2, and PALB2 Mutation Testing in Iranian Population With Breast Cancer." Journal of Global Oncology 4, Supplement 2 (October 1, 2018): 208s. http://dx.doi.org/10.1200/jgo.18.84100.
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Background: Identification of individuals who have a pathogenic mutation in breast cancer susceptibility genes is an important step to take advantage of genetic counseling, screening, and potentially life-saving prevention strategies. Based on the National Comprehensive Cancer Network (NCCN) guideline, genetic testing is deemed suitable for breast cancer patients with young age at onset, positive family history of cancers, male breast cancer, or diagnosis with a multifocal or triple negative breast cancer. Aim: Since, it is not known what proportion of breast cancers in Iran is hereditary and related to mutations in BRCA1/2 and PALB2 genes, therefore, we screened these 3 genes in multiethnic Iranian population to determine the spectrum of the breast cancer susceptibility gene mutations and to further assess the predictive value of the hereditary breast cancer risk criteria for genetic testing. Methods: Next generation sequencing (NGS) was conducted on a population consisted of 299 and 125 breast cancer patients, with and without hereditary cancer risk criteria for genetic testing, respectively. Results: Pathogenic mutation rate was 10.36% in patients with hereditary criteria for breast cancer vs 1.6% in no criteria group ( P = 0.002). All the patients who only met the young age at onset (<40) criterion tested negative for a gene mutation. This is while patients who had only 1 hereditary criterion (OR: 5.48, 95% CI: 1.09, 52.90, P = 0.017) and patients with multiple hereditary criteria (OR: 22.5, 95% CI: 5.19, 201.31, P < 0.0001) had a significantly higher probability of finding a mutation compared with no risk-criteria group. Conclusion: The first application of NGS on Iranian breast cancer population added to the cumulative evidence that BRCA1/2 mutations are seen commonly among Iranian breast cancer patients especially those with hereditary breast cancer criteria and indicated that PALB2 should be concerned in hereditary breast cancer screening alongside BRCA1/2. Investigating the predictive potential of hereditary breast cancer risk criteria our results suggest that offering genetic testing to women with early age at onset of <40 with no other hereditary criteria, may not be cost effective and should be considered for optimization of genetic counseling and genetic testing of the Iranian population.
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Bradbury, Angela R., Linda Patrick-Miller, Brian L. Egleston, Kara N. Maxwell, Laura DiGiovanni, Jamie Brower, Dominique Fetzer, et al. "Returning Individual Genetic Research Results to Research Participants: Uptake and Outcomes Among Patients With Breast Cancer." JCO Precision Oncology, no. 2 (November 2018): 1–24. http://dx.doi.org/10.1200/po.17.00250.
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Purpose Understanding the outcomes of returning individual genetic research results to participants is critical because some genetic variants are found to be associated with health outcomes and have become available for clinical testing. Materials and Methods BRCA1/2-negative women with early-onset breast cancer, multiple primary cancers, or a family history of breast cancer who participated in a gene discovery cancer registry were offered the opportunity to learn their individual genetic research results of 24 breast cancer susceptibility genes with a genetic counselor after predisclosure genetic counseling. Outcomes included uptake of research results, knowledge, informed choice, psychosocial adjustment, uncertainty, satisfaction, and uptake of clinical confirmation testing. Results Four hundred two potential participants were contacted. One hundred ninety-four participants (48%) did not respond despite multiple attempts, and 85 participants (21%) actively or passively declined. One hundred seven participants (27%) elected for predisclosure counseling and were more likely to be younger, married, and white. Ninety percent of participants who had predisclosure counseling elected to receive their genetic research results, and 89% made an informed choice. Knowledge increased significantly after predisclosure counseling, and anxiety, intrusive cancer-specific distress, uncertainty, and depression declined significantly after receipt of results. General anxiety and intrusive cancer-specific distress declined significantly for both participants with a positive result and those with a negative result. Sixty-four percent of participants had clinical confirmation testing when recommended, including all participants with a mutation in a high-penetrance gene. Conclusion Uptake of genetic research results may be lower than anticipated by hypothetical reports and small select studies. Participants who elected to receive research results with genetic providers did not experience increases in distress or uncertainty, but not all patients return for confirmation testing.
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Goelen, Guido, Adelheid Rigo, Maryse Bonduelle, and Jacques De Grève. "Moral Concerns of Different Types of Patients in Clinical BRCA1/2 Gene Mutation Testing." Journal of Clinical Oncology 17, no. 5 (May 1999): 1595. http://dx.doi.org/10.1200/jco.1999.17.5.1595.
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PURPOSE: Implementing predictive genetic testing for a severe and common chronic disease such as breast cancer may raise unique ethical problems. Here we report on moral concerns experienced by patients in the setting of genetic counseling based on BRCA1/2 gene testing. PATIENTS AND METHODS: Patients were members of breast or breast/ovarian cancer families in a consecutive series of 100 families who received counseling at a familial cancer clinic. The patients' moral concerns were identified using the grounded theory approach in the qualitative analysis of verbal transcripts of 45 counseling sessions. Included were sessions with patients who had breast and ovarian cancer, as well as their male and female relatives, before and after the specific BRCA1/2 gene mutation was identified in the family, and before and after those who opted for mutation analysis were informed of their carrier status. RESULTS: There is an association of BRCA1/2 gene mutation carrier status and specific topics of moral concern. The moral preoccupations of patients with breast and ovarian cancer (probable carriers) related to their being instrumental in the detection of the specific mutation segregating in the family. The preoccupations of possible carriers concerned their own offspring. Individuals who tested positive (proven carriers) were concerned with issues of confidentiality. Patients who tested negative (proven noncarriers) were concerned with helping siblings and other relatives. CONCLUSION: Knowledge of the moral concerns of subjects in the study sample may help health care providers be aware of the moral concerns of their own patients. This report may also contribute to the debate on predictive testing for familial adult-onset diseases from the patient's perspective.
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Diz, M. D., I. Snitcovsky, G. F. Almeida, S. Maistro, and M. H. Federico. "Quality of life (QoL) measurement in breast cancer patients who were offered an evaluation at the hereditary cancer unit." Journal of Clinical Oncology 24, no. 18_suppl (June 20, 2006): 18532. http://dx.doi.org/10.1200/jco.2006.24.18_suppl.18532.
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18532 Background: An Hereditary Cancer Unity was recently established in our service and we aimed to determine how many of our pts with a history of breast cancer would fulfill the criteria for undergoing BRCA1/2 genetic counseling. In addition, we asked whether or not a routine referral for a consultation in this population should impact on QoL. Methods: From September to November 2005, 180 women being followed-up at our service with a history of breast cancer, not in chemotherapy, were invited to schedule a appointment for genetic counseling. 130 pts answered the invitation and were asked to complete QoL questionnaires EORTC QL30 and BR23 (QLQ) validated into Brazilian Portuguese, before and after genetic counseling. Data were analyzed by Wilcoxon test or regression analysis, whatever appropriate, p≤0.05 considered significant. Results: All 130 pts were evaluated and BRCA1/2 mutation risk assessed based on previously published criteria (Frank et al, JCO 20:1480,2002). We evaluated that, as a whole, 25 pts harbor at least 10% probability and 3 were identified that present at least 20% probability. Three additional pts had bilateral cancer. None of these pts had been previously referred to genetic counseling. Regarding EORTC QLQ pre- and post genetic counseling, we found no differences regarding global QoL (75 vs 66), functional scales physical (80 vs 86), role (100 vs 100), cognitive (83 vs 83, social (100 vs 100), sexual function (83 vs 83), sexual pleasure (50 vs 66) or future perspective (33 vs 66) (p > 0.05). Concerning the emotional scale, we found an improvement after counseling (58 vs 75, p = 0.034) which seems to be clinically meaningful. Emotional status and global QoL were positively correlated (p < 0.000, r = 0.473, Pearson correlation). Conclusions: Our impression is that genetic counseling benefit breast cancer pts in terms of QoL, perhaps decreasing emotional distress. Apart from that, we need to define which risk threshold should be adopted in our service. Acknowledgment: to Marcelo Lopes technical assistance. No significant financial relationships to disclose.
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Prastowo, Angga Dian. "PENGARUH KONSELING TERHADAP TINGKAT PEMAHAMAN PENYAKIT DAN EFEK SAMPING OBAT KEMOTERAPI PADA PASIEN KANKER PAYUDARA DI UNIT KEMOTERAPI SALAH SATU RUMAH SAKIT DI KOTA MALANG." Sainsbertek Jurnal Ilmiah Sains & Teknologi 1, no. 2 (March 4, 2021): 36–41. http://dx.doi.org/10.33479/sb.v1i2.95.
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AbstrakKanker payudara adalah penyebab kematian terbesar pada wanita. Salah satu hal yang penting untuk diperhatikan adalah pada pasien kanker payudara yang menjalani kemoterapi akan mengalami efek samping mual muntah, rambut rontok, nyeri, kehilangan nafsu makan dan lain- lain. Penelitian saat ini bertujuan untuk mengetahui pengaruh konseling terhadap tingkat pemahaman penyakit dan efek samping kemoterapi pasien kanker payudara Penderita kanker payudara perlu mengetahui penyakitnya dengan baik agar kualitas hidupnya dapat tetap terjaga. Edukasi yang dilakukan secara perseorangan maupun kelompok pada penderita tentang efek samping obat kemoterapi sangat diperlukan supaya penderita tidak merasa cemas apabila mengalami efek dari kemoterapi tersebut. Pemberian konseling oleh Apoteker pada pasien kemoterapi kanker payudara sangat penting karena dapat meningkatkan pengetahuan pasien, kepatuhan pasien dalam pengobatannya serta dapat meningkatkan kualitas hidup pasien. Tujuan penelitian ini untuk mengetahui pengaruh pemberian konseling oleh Apoteker terhadap tingkat pemahaman penyakit dan efek samping kemoterapi pada pasien kanker payudara di Unit Kemoterapi Salah Satu Rumkit Pemerintah Di Kota Malang..Penelitian ini merupakan studi kuantitatif dengan desain Pre-Experimental berupa pretest-postes design. Banyaknya sampel yang diambil didasarkan atas waktu yaitu selama satu bulan dan sampel diambil dengan metode consecutive sampling. Hasil penelitian menggunakan uji Wilcoxon menunjukkan terdapat perbedaan nilai sebelum dan sesudah diberikan konseling oleh apoteker terhadap pasien kemoterapi kanker payudara dengan nilai signifikansi sebesar 0,000 (P value< 0,05). Kesimpulan pada penelitian ini adalah pemberian konseling oleh apoteker dapat meningkatkan tingkat pemahaman penyakit dan efek samping dari kemoterapi kanker payudara.Kata kunci : konseling, pemahaman, penyakit kanker payudara, efek samping kemoterapi Abstract Breast cancer is the leading cause of death in women. One important thing to note is that breast cancer patients who undergo chemotherapy experience side effects of nausea and vomiting, hair loss, pain, loss of appetite and others. The current study aims to determine the effect of counseling on the level of understanding of the disease and the side effects of breast cancer chemotherapy patients Breast cancer patients need to know the disease well to the quality of life can be maintained. Education is done individually or in groups to the patient about the side effects of chemotherapy drugs is indispensable so that the patient does not feel anxious when experiencing the effects of chemotherapy. Provision of counseling by pharmacists in patients with breast cancer chemotherapy is very important because it can improve patient knowledge, patient compliance in the treatment and can improve the quality of life of patients. The purpose of this study to determine the effect of counseling by pharmacists to the level of understanding of the disease and the side effects of chemotherapy in breast cancer patients on Chemotherapy Unit One Government Hospital In Malang .. This research is a quantitative study with Pre-Experimental design in the form of a pretestposttest design. The number of samples taken based on the time that is for one month and samples were taken with consecutive sampling method. The results using the Wilcoxon test shows that there are differences in values before and after counseling by pharmacists to patients with breast cancer chemotherapy with a significance value of 0.000 (p value <0.05). Conclusion of this research is the provision of counseling by pharmacists can improve the level of understanding of the disease and the side effects of breast cancerchemotherapy. The results using the Wilcoxon test shows that there are differences in values before and after counseling by pharmacists to patients with breast cancer chemotherapy with a significance value of 0.000 (p value <0.05). Conclusion of this research is the provision of counseling by pharmacists can improve the level of understanding of the disease and the side effects of breast cancer chemotherapy. The results using the Wilcoxon test shows that there are differences in values before and after counseling by pharmacists to patients with breast cancer chemotherapy with a significance value of 0.000 (p value <0.05). Conclusion of this research is the provision of counseling by pharmacists can improve the level of understanding of the disease and the side effects of breast cancer chemotherapy. Keywords : Counseling, understanding, breast cancer, chemotherapy side effects
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Maudgal, S., W. Han, and V. Shukla Mishra. "Alexithymia in Breast Cancer Patients and Their Sisters in Seoul." Journal of Global Oncology 4, Supplement 2 (October 1, 2018): 114s. http://dx.doi.org/10.1200/jgo.18.29500.
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Background: The incidence of breast cancer has more than doubled in South Korea since 1999. Breast cancer in the family affects other members such as first degree relatives. Alexithymia is a psychological construct related to an inability to express ones feelings and has been found to be useful in identifying individuals who might benefit from targeted counseling to address distress. Aim: The purpose of this study was to examine the levels of alexithymia in breast cancer patients, their sisters and healthy controls in South Korea with the aim of identifying individuals who will benefit from targeted counseling. Methods: The Korean version of the alexithymia questionnaire was used to compare the groups. The study group consisted of 98 breast cancer in-patients, out-patients, follow-up cases and lymphedema clinic attendees undergoing treatment at the Breast Care Center, Seoul National University Cancer Hospital, 50 sisters and 43 healthy controls. Results: The highest level of alexithymia was reported in patients, followed by their siblings. Healthy controls reported the lowest level of alexithymia. Difficulty in describing feeling scores has shown significant negative correlation with age and marital status among women with breast cancer. Women 51 years and above and married women have lower scores than those below 50 years aged women and those who are single, in a live-in relationship, widowed or divorced. No such significant correlation was observed among siblings and control group. The intensity of cancer was a significant predictor of the alexithymia score. Patients with T4 stage disease reported the highest levels of alexithymia. No significant differences were found among patients with lower staging. Conclusion: Not only breast cancer patients, but also their sisters show significantly more alexithymia than their healthy counterparts. Counselors can use the alexithymia questionnaire to identify persons who require support to prevent or reduce psychological problems in patients and siblings.
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Huang, Kai-Ling, Yu-Ling Liu, Ya-Ying Hsu, and Wen-Ling Kuo. "Retrospective Analysis of Clinicopathological Features and Familial Cancer History of Synchronous Bilateral Breast Cancer." Healthcare 9, no. 9 (September 13, 2021): 1203. http://dx.doi.org/10.3390/healthcare9091203.
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Bilateral breast cancer is a strong predictor of BRCA 1/2 mutation and hence one criterion indicated for hereditary genetic testing. The purpose of this study is to assess the characteristics of synchronous bilateral breast cancer (SBBC) and its association with personal and familial cancer traits. Patients diagnosed with SBBC in our institute between 1992 and 2018 were retrospectively reviewed, and the information of clinicopathological features, personal and family cancer history were analyzed. Of the 307 SBBCs enrolled, the growing case number generally aligned with the regional breast cancer incidence after the era of population-based mammography screening. SBBC patients had similar cancer stages but worse survival outcomes than those in the standard scenario. A total of 42.0% had mixed pathological diagnoses, and 22.8% had discordant immunohistochemistry (IHC) subtypes from both sides, which contributed to treatment challenges. The correlation of SBBC with hereditary breast and ovarian cancer (HBOC) syndrome was strongly implied, as 20.7% of our SBBC patients with known familial cancer histories had HOBC-related familial cancers (breast, ovarian, or prostate cancers). These findings highlight the need for genetic counseling and germline mutation testing in patients with SBBC. Early PARP inhibitor treatment should also be considered in high-risk cases for outcome improvement.
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Calip, Gregory Sampang, Katherine Rebecca Exten, Garth H. Rauscher, Krystal Brown, Ryan Bernhisel, John Kidd, Jennifer Saam, Johnathan Lancaster, and Kent Hoskins. "Family history of breast cancer in non-BRCA male breast cancer: A case-control study." Journal of Clinical Oncology 35, no. 15_suppl (May 20, 2017): e13032-e13032. http://dx.doi.org/10.1200/jco.2017.35.15_suppl.e13032.
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e13032 Background: Approximately 85% of male breast cancer (MBC) patients test negative for a BRCA mutation, and the role of genetic predisposition is unclear. Cancer risk counseling for unaffected relatives of BRCA-negative MBC patients relies on accurate cancer risk estimates, but there is limited data on the risk of breast cancer (BC) for relatives of these men. We characterized the association between MBC and family history of BC in patients who test negative for BRCA mutations in order to facilitate cancer risk counseling and to explore the possibility of unidentified MBC susceptibility alleles. Methods: We performed a case-control study of patients who had full length sequencing and large-rearrangement analysis for germline mutations in BRCA1/2 or the mismatch repair (MMR) genes at a commercial laboratory from 2006-2012. Cases were MBC patients who tested negative for a BRCA1/2 mutation (n = 3,647); controls were male colon cancer patients who tested negative for mutations in MMR genes (n = 4,269). Information on family history of BC was ascertained from test request forms completed by the ordering healthcare provider at the time of testing. Unconditional multivariable logistic regression models estimated odds ratios (OR) and 95% confidence intervals (CI) for associations between family history of BC in first- (FDR) and second-degree relatives (SDR) and MBC with adjustment for potential confounders (age, ethnicity, year of testing). Results: Compared to controls, MBC cases had higher odds of BC in a FDR or SDR (OR = 4.7; 95% CI 4.1, 5.3). Associations were strongest for family history of BC in 1 female FDR (OR = 3.9; 95% CI: 3.3, 4.6), ≥2 female FDR (OR = 7.5; 95% CI 5.0, 11.4), BC in a FDR < 45 years old (for cases diagnosed < 45, OR = 6.9; 95% CI 3.9, 12.4), a male FDR or SDR with BC (OR = 17.9; 95% CI 7.6, 42.1), and both a male and female FDR or SDR with BC (OR = 15.7; 95%CI 4.4, 55.3). Conclusions: MBC patients who test negative for a BRCA mutation have significantly higher odds of reporting family members affected by breast cancer, particularly with affected FDR < 45 years old, multiple affected relatives, and male relatives with BC. This data can guide risk counseling in MBC families, and suggests the existence of unidentified MBC susceptibility alleles.
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Katz, Steven J., Kevin C. Ward, Ann S. Hamilton, M. Chandler Mcleod, Lauren P. Wallner, Monica Morrow, Reshma Jagsi, Sarah T. Hawley, and Allison W. Kurian. "Gaps in Receipt of Clinically Indicated Genetic Counseling After Diagnosis of Breast Cancer." Journal of Clinical Oncology 36, no. 12 (April 20, 2018): 1218–24. http://dx.doi.org/10.1200/jco.2017.76.2369.
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Purpose Little is known about the extent to which genetic counseling is integrated into community practices for patients newly diagnosed with breast cancer. We examined the receipt of clinically indicated genetic counseling in these patients. Patients and Methods We surveyed 5,080 patients between the ages of 20 and 79 years, diagnosed from July 2013 to August 2015 with early-stage breast cancer and reported to the SEER registries of Georgia and Los Angeles County. Surveys were linked to SEER clinical data and genetic test results. The study sample (N = 1,711) comprised patients with indications for formal genetic risk evaluation. Results Overall, 47.4% did not get tested, 40.7% tested negative, 7.4% had a variant of uncertain significance only, and 4.5% had a pathogenic mutation. Three quarters (74.6%) received some form of genetic counseling (43.5%, formal counseling and 31.1%, physician-directed discussion). Virtually all tested patients (96.1%) reported some form of genetic discussion (62.2%, formal counseling and 33.9%, physician-directed discussion). However, only one half (50.6%) of those not tested received any discussion about genetics. Younger women were more likely to report some type of counseling, controlling for other factors: odds ratio, 4.5 (95% CI, 2.6 to 8.0); 1.9 (95% CI, 1.1 to 3.3); and 1.5 (95% CI, 1.0 to 2.3) for women younger than 50 years of age, 50 to 59 years of age, and 60 to 69 years of age versus those 70 years of age and older. Patients’ assessments of the amount of information they received about whether to get tested were similarly high whether they were counseled by a genetics expert or by a physician only (80.8% v 79.4% stated information was just right, P = .59). Conclusion Less than one half (43.5%) of patients with clinical indications received formal genetic counseling. There is a large gap between mandates for timely pretest formal genetic counseling in higher-risk patients and the reality of practice today.
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Cohn, Jeffrey, Angela Carrigan, Selvi Palaniappan, Silvana Rivero, and Kathleen M. Castro. "Increasing genetics referrals: The National Cancer Institute Community Cancer Centers Program (NCCCP) network performance improvement project." Journal of Clinical Oncology 30, no. 34_suppl (December 1, 2012): 111. http://dx.doi.org/10.1200/jco.2012.30.34_suppl.111.
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111 Background: A NCCCP goal is to improve quality of care through increasing guideline adherence at participating community cancer centers. 14 NCCCP sites participated in a performance improvement project to (1) increase genetics referral and counseling services by 10% in accordance with established guidelines for breast or colorectal cancer. The project hypothesized that data collection and feedback improves referral rates by better targeting eligible populations for improvement interventions. Methods: Sites recorded the source and outcome of each breast/colon referral using a tool developed by the NCCCP. Aggregate data were shared on monthly project calls where site staff shared best practices/issues with peers and received feedback. Results: Data were collected Jul 2011-Apr 2012 and analyzed at 2-week intervals. The number of colorectal and breast patients referred for genetics counseling remained stable through the 9-month period. Despite no change in the rates of referrals the data were hypotheses generating. Colorectal cases of all ages were being correctly referred in accordance with established guidelines; project calls demonstrated sites’ efforts to improve referral processes, such as including genetics counselors in the multidisciplinary team discussions, implementing universal screening for Lynch syndrome, and developing new linkages with referring staff. Conclusions: The project was a successful proof of concept study showing the feasibility of pooling genetic counseling data across diverse community cancer centers. Robust data collection is inadequate to drive sustainable improvement; specific process changes are also required. Future NCCCP collaborative initiatives are needed to ensure all eligible patients have access to genetic counseling referral services as there remain a significant group of patients eligible for genetic counseling who are not being seen. Funded by HHSN261200800001E.
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Susetyowati, Susetyowati, Sri Retna Dwidanarti, Retno Pangastuti, Hanifah Wulandari, Farah Faza, and Nadira D'mas Getare Sanubari. "The effect of nutrition counseling on nutritional status for breast cancer patients in dr. Sardjito Hospital, Indonesia." Jurnal Gizi Indonesia (The Indonesian Journal of Nutrition) 10, no. 1 (December 22, 2021): 61–71. http://dx.doi.org/10.14710/jgi.10.1.61-71.
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Background: Nutrition counseling in breast cancer (BC) patients show long-term adherence to a dietary pattern and effects on nutritional status and quality of life (QOL).Objective : We evaluated the effects of nutrition counseling for nutrients intake dan nutritional status improvement among breast cancer patients.Material and Methods: This research was conducted in a Pre-experimental design; one group pretest-postest design was conducted on 45 BC patients who underwent radiotherapy for five weeks in the Radiotherapy Unit, dr. Sardjito Hospital, Indonesia. Nutrition counseling was demonstrated by trained fieldworkers to 45 participants using a nutrition booklet for BC patients and a food model as an intervention technique. Continuous nutrition counseling was given three times: weeks 1, 3, and 5 of radiotherapy. We examined anthropometry, biochemical, physical, dietary, and Patient-Generated Subjective Global Assessment (PG-SGA) questionnaire to obtain nutritional status.Results: Most of the participants had a body mass index (BMI) ≥25 kg/m2 (62.2%). After the participants were receiving nutrition counseling, there were increases in intake of energy, protein, carbohydrate, vitamin A, vitamin C, and vitamin E amounted 124.54 kcal, 8.12 g (p=0.01), 5.84 g, 234.43 mg, 0.042 mg, and 0.44 mg, respectively. Intake of fruits and vegetables improved on the first, third, and fifth week (1.44, 2.36, and 4.03 portion/day, respectively) (p=0.001). Handgrip strength (HGS) showed slight improvement (p=0.081). However, HGS ameliorated from 15.85 kgs in the early to 16.97 kgs in the end stage of therapy. Bodyweight decreased 0.28 kg; however, there are no changes in PG-SGA score, hemoglobin (Hb), and albumin levels.Conclusion: Nutrition counseling improves patients’ nutrition intake despite there is no significant alteration in nutritional status. In addition, nutrition counseling for breast cancer patients during radiotherapy is essential to maintain and improve nutrient intake and nutritional status. In the long-term period, it might be affected to improve quality of life.
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Parkinson, Gerneiva, Anees B. Chagpar, Kellie Alleyne-Mike, Marcella Nunez-Smith, Alicia Zhou, Lily Servais, and Erin Wysong Hofstatter. "Investigation of HBOC germline mutations in women diagnosed with breast cancer in Trinidad and Tobago." Journal of Clinical Oncology 37, no. 15_suppl (May 20, 2019): 6574. http://dx.doi.org/10.1200/jco.2019.37.15_suppl.6574.
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6574 Background: Trinidad and Tobago (T&T) is the southern-most Caribbean island, and according to the WHO/PAHO, it has the 2nd highest breast cancer mortality rate in the region. Notably, a large proportion of breast cancer cases in T&T occur at a young age; with nearly 36% of them being diagnosed under the age of 50. There is a known association between a younger age at diagnosis and Hereditary Breast and Ovarian Cancer syndrome (HBOC). Yet, the prevalence of HBOC mutations remains unknown in T&T, as genetic counseling and testing services are extremely limited in the region. Therefore, we sought to determine the prevalence and spectrum of HBOC mutations in T&T. Methods: At the National Radiotherapy Center, T&T’s main oncology unit, female breast cancer patients, who met NCCN criteria for further genetic counseling and testing were recruited through chart reviews. After pre-test counseling, enrolled subjects had a detailed interview about their personal breast cancer diagnosis and family history. A saliva sample was collected using an Oragene kit, and analyzed by Color Genomics Inc. for 30 genes associated with hereditary cancers. Finalized results were returned to patients by genetic counselors from Color Genomics. Results: A total of 118 female patients who met NCCN guidelines for HBOC testing received genetic testing. A majority were 50 years of age or younger (69/118, 59%). The cohort was ethnically diverse: 34% African, 15% Asian, 48% multiple ethnicity, and 3% other/unknown. A pathogenic or likely pathogenic variant (positive result) was identified in 21.2% of the cohort (25/118) - most commonly identified in the BRCA1 gene (13/25, 52%), followed by BRCA2 (5/25, 20%), PTEN (2/25, 8%), BRIP1 (1/25, 4%), CHEK2 (1/25, 4%), MSH6 (1/25, 4%), PALB2 (1/25, 4%), and RAD51C (1/25, 4%). Conclusions: We found a strikingly high HBOC germline mutation prevalence rate of 21.2% among a cohort of female breast cancer patients meeting NCCN criteria for HBOC testing in T&T. Given the growing implications of germline HBOC mutations for breast cancer treatment and prevention, our results demonstrate an urgent need for funding, as well as the development of robust genetic counseling and testing services in T&T.
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Audrain, J., B. Rimer, D. Cella, J. Garber, B. N. Peshkin, J. Ellis, J. Schildkraut, M. Stefanek, V. Vogel, and C. Lerman. "Genetic counseling and testing for breast-ovarian cancer susceptibility: what do women want?" Journal of Clinical Oncology 16, no. 1 (January 1998): 133–38. http://dx.doi.org/10.1200/jco.1998.16.1.133.
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PURPOSE To assess preferences for the content and process of genetic counseling and testing for breast-ovarian cancer susceptibility among women at high risk for breast cancer. METHODS Ninety-eight healthy women who had a family history of breast cancer in at least two first-degree relatives participated in a structured telephone survey that evaluated preferences for type of provider and the content and process of pretest education and posttest genetic counseling. RESULTS Forty-two percent of women preferred that pretest education be delivered by a genetic counselor, while 22% preferred an oncologist. This preference was positively associated with a desire to discuss psychosocial issues during the session (P = .001). For posttest counseling, 38% of women preferred an oncologist, while 20% preferred a genetic counselor. However, women who desired supportive counseling during this session were significantly more likely to prefer a genetic counselor to an oncologist (P = .02). Fewer women wished to see a primary care physician or gynecologist for pretest education (11%) or posttest counseling (22%). With regard to the counseling process, 82% of women wished to self-refer for genetic counseling, but 63% desired advice and recommendations about whether to be tested. CONCLUSION When feasible, the optimal approach may be for oncologists to work with genetic counselors to provide pretest education and medical recommendations. Elicitation of patients' preferences may be useful to determine the level of counseling services needed.
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Kershberg, Hilary B., Monica Alvarado, Jaime L. Natoli, Emily Parkhurst, Hui Zhou, and George E. Tiller. "Use of the electronic medical record (EMR) to identify women at increased risk for hereditary breast and ovarian cancer (HBOC)." Journal of Clinical Oncology 31, no. 31_suppl (November 1, 2013): 236. http://dx.doi.org/10.1200/jco.2013.31.31_suppl.236.
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236 Background: Diagnosis of breast cancer at a young age is an indication for genetic counseling and possible BRCA testing. However, not all women with this early diagnosis are referred for genetic counseling, especially if they do not have a family history of breast or ovarian cancer. Methods: The genetics department in Kaiser Permanente Southern California (KPSC) provides clinical genetic services in an integrated health care system serving over 3.6 million members. Using data from the KPSC tumor registry, the KPSC EMR system, and a departmental cancer test results database, we identified 454 women diagnosed with early breast cancer (<46 years) between September 2005 and September 2010 who had not received genetic counseling. We contacted these women with a letter and/or phone call offering a genetics consultation, and we offered BRCA testing to all those who came for counseling. Results: 142 women (31%) came in for genetic counseling, and 312 women (69%) declined, did not keep their appointment, or never responded. Hispanics were more likely to schedule and keep an appointment than Caucasians (OR=1.35, 95% CI, 0.79-2.31), although this was not statistically significant. Of those who came in for counseling, African Americans were significantly less likely to accept genetic testing than Caucasians (OR=0.31, 95% CI, 0.10-0.98).Of the 142 patients who were counseled, 122 (86%) accepted testing. We identified 6 patients (5%) who were positive for a deleterious BRCA mutation and 6 patients (5%) who had a variant of uncertain significance. Of the 6 women with deleterious mutations, only 1 had a first-degree relative with breast or ovarian cancer, and 4 had mutation probabilities <10%. Conclusions: This project demonstrates how an integrated care approach and EMR system provide an opportunity to identify and contact women who are at increased risk for inherited cancer susceptibility.
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Rossi, Cristina, Claudia Maggiore, Maria Maddalena Rossi, Alessio Filippone, Donatella Guarino, Annalisa Di Micco, Luana Forcina, and Stefano Magno. "A Model of an Integrative Approach to Breast Cancer Patients." Integrative Cancer Therapies 20 (January 2021): 153473542110408. http://dx.doi.org/10.1177/15347354211040826.
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Background: Breast cancer (BC) survivors have physical and psychological needs that require convincing responses by health care providers. The quality of life issue and clinical unmet needs are among the main reasons pushing a number of patients toward “natural” therapies that are often misleading and alternative to mainstream cancer care. Integrative Oncology (IO) tries to respond to many of those needs, by combining lifestyle counseling, body-mind activities, and complementary evidence-informed therapies with anticancer standard treatments. Methods: In our model at Fondazione Policlinico Gemelli (FPG), every woman diagnosed with a BC waiting for surgery or candidate to neoadjuvant chemotherapy undergoes a preliminary psycho-oncological distress evaluation and a brief lifestyle interview. Anthropometric measurements, body composition analysis, and individual levels of physical activity are recorded. Patients are given evidence based recommendations about the advisable diet and physical activity in a prehabilitation setting. A physician provides patients with information about integrative care plans to treat symptoms related to the disease or its treatments. Therapeutic approaches include acupuncture, mindfulness-based protocols, qigong, massage therapy, and classes of music/art therapy. Results: Between September 2018 and February 2020, the Center for Integrative Oncology at FPG has carried out 1249 lifestyle counseling sessions, 1780 acupuncture treatments, 1340 physiotherapy sessions, 3261 psycho-oncological consultations, 218 herbal medicine counseling sessions. Moreover, 90 BC patients completed the mindfulness based stress reduction (MBSR) protocol and 970 patients participated in qigong, art therapy, and music therapy classes. Conclusions: Our integrative approach aims to achieve a person-centered medicine by improving symptoms management, adherence to oncological protocols, and eventually overall quality of life.
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Graff, Stephanie L., Jared M. Holder, Lindsay E. Sears, and Dax Kurbegov. "Increase in Genetic Counseling and Testing Referrals After Breast Cancer Pathway Implementation." JCO Oncology Practice 16, no. 12 (December 2020): e1481-e1488. http://dx.doi.org/10.1200/jop.19.00552.
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PURPOSE: Genetic counseling and testing (GC/T) for breast cancer–associated genetic mutations are important components in the appropriate management of newly diagnosed breast cancer. We initiated pathways to help appropriately select patients who meet criteria for GC/T referral (GC/T-R) across the Sarah Cannon Cancer Institute Network. This study evaluated physician pathway training as a means to improve access to GC/T-R. METHODS: In this retrospective, observational study, we collected data from 7 regions across 6 states, identifying 3,113 patients eligible for GC/T. Patients were divided into 3 defined cohorts: patients treated before implementation of pathways (n = 988), patients treated by non-pathway physicians after pathways were established (n = 1,094), and patients treated by pathway-trained physicians (n = 1,031). Pathways were established in March 2016. Nurse navigators documented eligible patients who were referred for GC/T within a care coordination software system. RESULTS: Eligible patients were referred for GC/T 71.77% of the time if treated on pathways and only 36.47% of the time if treated off pathways. On-pathway patients eligible for GC/T also received testing referral at a higher rate than pre-pathway patients (21.36%). CONCLUSION: After implementation of pathways and appropriate training of physicians on those pathways, GC/T-R among appropriate patients significantly improved. Pathway training represents a potential solution to improve GC/T-R among patients with breast cancer.
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Pogoda, Katarzyna, Anna Niwińska, Elżbieta Sarnowska, Dorota Nowakowska, Agnieszka Jagiełło-Gruszfeld, Janusz Siedlecki, and Zbigniew Nowecki. "Effects of BRCA Germline Mutations on Triple-Negative Breast Cancer Prognosis." Journal of Oncology 2020 (January 27, 2020): 1–10. http://dx.doi.org/10.1155/2020/8545643.
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Germline BRCA1 and BRCA2 mutations confer an increased lifetime risk for breast cancer and ovarian cancer. Several studies have investigated prognosis among BRCA1/2 mutation carriers and noncarriers, but the prognostic impact on outcomes of breast cancer patients has not been determined. The aim of this study was to determine the prognosis of TNBC patients with and without BRCA1/2 germline mutation. Among 502 patients diagnosed with TNBC between 2005 and 2008, 124 patients with a strong family history of breast cancer or ovarian cancer as well as TNBC patients diagnosed under 45 years were referred to the Genetic Counseling Unit for genetic counselling and genetic tests. In 30 (24%) of them, the BRCA1/2 mutation was detected (the most common 5382insC in 18 (60%) patients). The median follow-up of the entire group was 60 months. BRCA1/2 mutation carriers were statistically significantly younger at TNBC diagnosis compared with nonmutation patients (41 vs 47 years, respectively). Patients with the BRCA1/2 mutation had smaller tumors (stage I: 47% vs 24.5% in noncarriers), but there was no significant difference in the regional nodal status (58.5–63% with cN0). Contralateral breast cancer developed in 26.5% of BRCA1/2 mutation carriers and in 14% of noncarriers. Other primary cancers were also slightly more common in BRCA1/2 mutation carriers (16.5% vs 9.5%). The performed analysis did not show any significant differences between the groups in recurrence-free survival (p=0.312). There was no significant difference between patients with or without BRCA1/2 mutation as regards overall survival (p=0.649) and the risk of TNBC death (p=0.333). The survival from detection of metastases was similar in two groups (p=0.865). Our study demonstrated that the BRCA1 mutation does not affect TNBC patients’ outcomes.
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Ce Coelho, Juliano, Henrique de Araujo Vianna Trasel, Bruno Lopes Koech, Cristina Oliveita Netto, Sergio J. Azevedo, and Patricia Ashton-Prolla. "Genetic counseling to outpatient cancer population." Journal of Clinical Oncology 35, no. 15_suppl (May 20, 2017): e13009-e13009. http://dx.doi.org/10.1200/jco.2017.35.15_suppl.e13009.
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e13009 Background: Recent advances in genetics and molecular biology have made possible to define the hereditary risk of certain diseases. About 10% of cancer are due to a hereditary syndrome and increasing access to genetic testing allows us to identify people or families at risk. Methods: A multidisciplinary team composed of clinical oncologists and geneticists retrospectively evaluated all cancer patients referred to the outpatient clinics of the Hospital de Clínicas de Porto Alegre Cancer Center between October 1st, 2014 and July 31st, 2015. Epidemiological data, pathological examination and family history of cancer recorded in the electronic database at the first visit to the oncologist were analyzed. Results: A total of 708 patients were analyzed. 44 (6.21%) patients were identified and referred for genetic evaluation by the clinical oncologist. Another 85 (12.0%) patients were identified by the multidisciplinary team, completing a total of 129 (18.22%), patients that should be evaluated to the presence of a hereditary syndrome. 164 (23.16%) patients could not be evaluated by the multidisciplinary team because insufficient data were recorded especially those related to family history of cancer. The main diagnosis that indicated genetic evaluation were colorectal cancer (47 cases - 36.43%), breast cancer (36 cases - 27.90%) and ovarian cancer (8 cases - 6.20%). Conclusions: A multidisciplinary evaluation of the oncologic patient is mandatory. Few patients are referred to a genetic counseling and 1 out of 4 patient could not be evaluated because there was missing data in the medical records. A precise genetic evaluation can identify patient / families at risk to develop cancer, allowing the development of cancer prevention strategies in this high-risk population.
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Pensabene, Matilde, Claudia Von Arx, and Michelino De Laurentiis. "Male Breast Cancer: From Molecular Genetics to Clinical Management." Cancers 14, no. 8 (April 15, 2022): 2006. http://dx.doi.org/10.3390/cancers14082006.
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MBC is a rare disease accounting for almost 1% of all cancers in men and less than 1% of breast cancer. Emerging data on the genetic drivers of predisposition for MBC are available and different risk factors have been associated with its pathogenesis. Genetic alterations, such as pathogenetic variants in BRCA1/2 and other moderate-/low-penetrance genes, along with non-genetic risk factors, have been recognized as pathogenic factors for MBC. Preventive and therapeutic implications could be related to the detection of alterations in predisposing genes, especially BRCA1/2, and to the identification of oncogenic drivers different from FBC. However, approved treatments for MBC remain the same as FBC. Cancer genetic counseling has to be considered in the diagnostic work-up of MBC with or without positive oncological family history. Here, we review the literature, reporting recent data about this malignancy with a specific focus on epidemiology, and genetic and non-genetic risk factors. We introduce the perspective of cancer genetic counseling for MBC patients and their healthy at-risk family members, with a focus on different hereditary cancer syndromes.
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Mansur, Arian, Fang Zhang, and Christine Y. Lu. "Association between Health Insurance Type and Genetic Testing and/or Counseling for Breast and Ovarian Cancer." Journal of Personalized Medicine 12, no. 8 (July 31, 2022): 1263. http://dx.doi.org/10.3390/jpm12081263.
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As genetic testing becomes increasingly incorporated into clinical practice to aid in both the diagnosis and risk assessment of genetic diseases, patients benefit from genetic counseling to support their understanding of test results either before and/or after genetic testing. Therefore, access to genetic testing and counseling is imperative for patient care. It is well established that health insurance coverage is a major determinant of access to health care in the United States as individuals without insurance are less likely to have a regular source of health care than their insured counterparts. Different health insurance plans and benefits also influence patients’ access to health care. Data on the association of health insurance and the uptake of genetic testing and/or counseling for cancer risk are limited. Using data from the National Health Interview Survey, we examined the uptake of genetic testing and/or counseling for breast/ovarian cancer risk by health insurance type. We found that only a small proportion of women undergo genetic testing and/or counseling for breast/ovarian cancer risk (2.3%), even among subgroups of women at risk due to family or personal history (6.5%). Women with health insurance were more likely to undergo genetic testing and/or counseling for breast/ovarian cancer risk, particularly those with military and private insurance plans, than those without health insurance after adjusting for various demographic, socioeconomic, and health risk covariates. Further investigations are needed to examine potential disparities in access and health inequities.
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Prolla, Carmen Maria Dornelles, Patrícia Santos da Silva, Cristina Brinckmann Oliveira Netto, José Roberto Goldim, and Patricia Ashton-Prolla. "Knowledge about breast cancer and hereditary breast cancer among nurses in a public hospital." Revista Latino-Americana de Enfermagem 23, no. 1 (February 2015): 90–97. http://dx.doi.org/10.1590/0104-1169.0185.2529.
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OBJECTIVE: To assess the knowledge of nurses involved in the care of oncology patients in a public university hospital, regarding breast cancer and hereditary breast cancer, and to verify the use of such knowledge in their daily practice.METHODS: This is a descriptive cross-sectional study. Data were obtained through a structured, self-administered questionnaire. Out of 154 nurses, 137 (88.9%) agreed to participate in the study. Two questionnaires were excluded such that 135 questionnaires were analyzed.RESULTS: The global percentage of correct answers was not associated with age (p=0.173) or degree/specialization (p=0.815). Questions were classified into categories. In categories involving knowledge of established breast cancer risk factors and indicators of hereditary breast cancer, the rate of correct answers was 65.8% and 66.4%, respectively. On the practice of genetic counseling, 40.7% of those interviewed were not sure about the definition of genetic counseling and 78.5% reported never having identified or referred a patient at genetic risk for specialized risk assessment. Practice of educational actions regarding this subject was reported by 48.5% of those interviewed.CONCLUSION: This study reinforces the need to develop qualifying actions for nurses, so that strategies to control breast cancer become effective in their health care practice.
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Shin, Hee-Chul, Wonshik Han, Han-Byoel Lee, Hyeong-Gon Moon, Eunshin Lee, and Dong Young Noh. "Frequency of germline patghogenic mutation in breast cancer patients at high risk hereditary cancer." Journal of Clinical Oncology 35, no. 15_suppl (May 20, 2017): e13110-e13110. http://dx.doi.org/10.1200/jco.2017.35.15_suppl.e13110.
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e13110 Background: Next-generation sequencing technology allows the simultaneous sequencing of multiple target genes. We developed a gene panel containing 64 genes which were associated with various hereditary cancers. This study was performed to evaluate the frequency of pathogenic mutations associated with hereditary cancer among Korean patients at high risk hereditary breast cancer using multi-gene sequencing panel. Methods: A total of 252 breast cancer patients with high-risk hereditary cancer were included. Among them, 179 patients (71.0%) had multiple primary cancers including breast cancer, 27 patients (10.7%) were diagnosed with bilateral breast cancer at age 40 or younger. Thirty-five patients (13.9%) had breast cancer family history of more than 2 relatives. With the 64 gene panel, sequence variants were detected by next-generation sequencing technology. Results: Sixty seven patients (26.8%) were found to have 77 germline pathogenic mutations, 12 in BRCA1, 13 in BRCA2, 9 in CDH1, 3 in FH, 5 in MSH2, 2 in MSH6, 4 in NAT1, 6 in PTCH1, 3 in RAD51, 7 in RET, 4 in SPINK1, 3 in TP53 and one each in ALK, BRIP1, CHEK2, MLH2, MUTYH, and PTEN. In 20 patients (4.0%), 2 (n = 9) or 3 (n = 1) pathogenic mutations were detected. In 227 patients with BRCA1/2 negative, CDH1 (n = 7), RET (n = 7), PTCH1 (n = 5), and MSH2 (n = 5) were the most prevalent pathogenic mutations. Conclusions: The 64 gene panel detected germline pathogenic mutations in 26.8% of Korean breast cancer patients with feature of hereditary cancer. Mutations of BRCA1, BRCA2, CDH1, RET, and PTCH1 were the most prevalent variants.Mutation carriers were considered as high risk to develop malignancy and recommended to receive genetic counseling and intensive cancer screening.
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Zaami, Simona, Rossella Melcarne, Renato Patrone, Giuseppe Gullo, Francesca Negro, Gabriele Napoletano, Marco Monti, et al. "Oncofertility and Reproductive Counseling in Patients with Breast Cancer: A Retrospective Study." Journal of Clinical Medicine 11, no. 5 (February 27, 2022): 1311. http://dx.doi.org/10.3390/jcm11051311.
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Introduction. Improving the prognosis of breast cancer patients is of utmost importance in terms of increasing survival rates. Modern medicine has therefore prioritized better quality of life for patients, even after the disease, through a better management of the potential long-term side effects induced by anticancer treatments. Fertility preservation and family planning are therefore crucial issues to be addressed in all cancer patients of reproductive age. Along those lines, a new branch of medicine with distinct multidisciplinary characteristics has developed over the years: oncofertility. Although both national and international guidelines value reproductive counseling as an essential aspect of the diagnostic-therapeutic pathway, part and parcel of the informed consent process, it is not included within the protocols adopted by the operating units for the care and management of neoplastic diseases. Objective. This study aimed to evaluate the activity of the Breast Unit of the Policlinico Umberto I Hospital, Rome, Italy, and the degree of compliance with guidelines. By knowing the strengths and weaknesses of such approaches, the standards of care offered to breast cancer patients can be improved. Materials and methods. A retrospective study based on a review of medical records was conducted between 2014 and 2021. Patients under 40 years of age diagnosed with non-metastatic malignancies were included who received chemotherapy treatment, namely neoadjuvant, adjuvant or adjuvant hormone therapy. Results. The data were extracted from the medical records of 51 patients who met the inclusion criteria, 41% of whom received reproductive counseling, and of these, 43% decided to undertake a path of fertility preservation. Factors such as the absence of children and young age reportedly favored both the interest in counseling proposals by the medical staff and the decision to undertake a path of fertility preservation. Conclusions. The study shows that there has been growing interest in the topic of oncofertility, especially in light of law 219/2017. Therefore, since 2018, multiple proposals for reproductive counseling have been set forth, but there was not an equally growing demand for fertility preservation practices, which can be explained by the invasive nature of such practices, the patients’ concern about their own state of health, and poor or inadequate information. Such impediments highlight the importance of standardized counseling and the need for a multidisciplinary medical team to support the patient in the decision-making process. The study also revealed a drop in the number of patients receiving counseling due to the COVID-19 pandemic, contrary to the positive trend that was recorded prior to the pandemic.
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Lewis, Jaime D., Celso Silva, Gwendolyn P. Quinn, and Marie Catherine Lee. "Uptake and experiences of breast cancer patients referred for fertility preservation." Journal of Clinical Oncology 30, no. 27_suppl (September 20, 2012): 86. http://dx.doi.org/10.1200/jco.2012.30.27_suppl.86.
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86 Background: The 2006 ASCO guidelines suggest women of childbearing age receive counseling and referrals regarding the impact of treatment on fertility. Less is known about the use and uptake of FP in these women. The objective of this study was to evaluate the experience of patients referred for FP from a multidisciplinary breast cancer program. Methods: After IRB approval, patients diagnosed with a primary breast cancer between January 1, 2006 and June 30, 2011 and referred for FP counseling were identified via queries of institutional databases. Clinicopathologic, treatment, and outcome data were collected. Patients who received a consultation with a reproductive endocrinologist (REI) and did not pursue FP were selected for further contact via telephone survey. Results: Twenty-two patients had a consultation with REI; 10 were nulliparous. Fifteen of these saw an REI prior to any treatment. Thirteen (59%) had embryo or oocyte preservation. The majority (9) underwent consultation with both surgical and medical oncology prior to REI. Nine of the 13 had surgery prior to FP. Of the remaining 9, 7 (78%) responded to a telephone survey. Six (86%) recalled counseling at the initial visit or prior to chemotherapy. Barriers to FP included: cost (3), perceived delay in chemotherapy (2), being overwhelmed by cancer diagnosis (2), uncertainty of FP effects on cancer (1), and ethical concerns (1). Conclusions: Patients counseled by multiple oncology providers in a multidisciplinary setting prior to REI consultation were more likely to pursue FP. Those who did not cited a number of factors in their decision. Consultation with multiple oncology specialists may enhance decision-making regarding FP. [Table: see text]
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Kufel-Grabowska, Joanna, Piotr Jędrzejczak, Mikołaj Bartoszkiewicz, Paweł Burchardt, and Maria Litwiniuk. "Strategies and results of oncofertility counseling in young breast cancer patients." Nowotwory. Journal of Oncology 71, no. 5 (October 13, 2021): 263–66. http://dx.doi.org/10.5603/njo.2021.0053.
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