Relevant bibliographies by topics / BRCA testing

Academic literature on the topic 'BRCA testing'

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Published: 4 June 2021
Last updated: 11 February 2022

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Journal articles on the topic "BRCA testing"

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Parikh, Purvish M., J. Wadhwa, S. Minhas, A. Gupta, S. Mittal, S. Ranjan, P. Mehta, et al. "Practical consensus recommendation on when to do BRCA testing." South Asian Journal of Cancer 07, no. 02 (April 2018): 106. http://dx.doi.org/10.4103/sajc.sajc_112_18.

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Abstract BRCA-mutation associated breast cancer and to future cancer risks and sensitivity to systemic therapies. Now that rapid genetic testing for BRCA1 and BRCA2 mutations is available, BRCA mutation status can be considered when making treatment and prevention decisions for BRCA testing, BRCA mutation carriers with breast cancer. Expert group used data from published literature, practical experience, and opinion of a large group of academic oncologists, to arrive at practical consensus recommendations for use by the community oncologists.
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Sahnane, Nora, Ileana Carnevali, Giorgio Formenti, Jvan Casarin, Sofia Facchi, Raffaella Bombelli, Eleonora Di Lauro, et al. "BRCA Methylation Testing Identifies a Subset of Ovarian Carcinomas without Germline Variants That Can Benefit from PARP Inhibitor." International Journal of Molecular Sciences 21, no. 24 (December 19, 2020): 9708. http://dx.doi.org/10.3390/ijms21249708.

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Homologous Recombination Deficiency (HRD) is a frequent feature of high-grade epithelial ovarian carcinoma (EOC), associated with sensitivity to PARP-inhibitors (PARPi). The best characterized causes of HRD in EOCs are germline or somatic mutations in BRCA1 and BRCA2 genes. Although promoter methylation is a well-known mechanism of gene transcriptional repression, few data have been published about BRCA gene methylation in EOCs. In this retrospective study, we quantitatively analyzed by pyrosequencing a selected series of 90 formalin-fixed (FFPE) primary EOCs without BRCA germline mutations. We identified 20/88 (22.7%) EOCs showing BRCA promoter methylation, including 17/88 (19.3%) in BRCA1 and 4/86 (4.6%) in BRCA2 promoters, one of which showing concomitant BRCA1 methylation. Mean methylation levels were 49.6% and 45.8% for BRCA1 and BRCA2, respectively, with methylation levels ≥50% in 10/20 methylated EOCs. Constitutive BRCA methylation was excluded by testing blood-derived DNA. In conclusion, pyrosequencing methylation analysis of BRCA genes is a robust, quantitative and sensitive assay applicable to FFPE samples. Remarkably, a considerable subset of germline BRCA-negative EOCs showed somatic methylation and, likely, HRD. A subpopulation of women with BRCA methylation, even without BRCA mutations, could potentially benefit from PARP-inhibitors; further clinical studies are needed to clarify the predictive role of somatic BRCA methylation of PARP-therapy response.
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Moore, H. C., R. Wesolowski, T. K. Choueiri, L. Rybicki, A. G. Shealy, G. Casey, and D. Weng. "Therapeutic radiation for breast cancer in BRCA mutation carriers and contralateral breast cancer (CBC) risk." Journal of Clinical Oncology 25, no. 18_suppl (June 20, 2007): 611. http://dx.doi.org/10.1200/jco.2007.25.18_suppl.611.

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611 Background: BRCA mutation carriers diagnosed with breast cancer are at high risk for contralateral second primary breast cancers. Mutations in BRCA1 and BRCA2 lead to defects in DNA repair. Radiation treatment for breast cancer is felt to increase risk of CBC, but the interaction between BRCA status and local radiation therapy with respect to their effects on CBC is unclear. Methods: Through an IRB approved database registry at the Cleveland Clinic, breast cancer patients tested for BRCA1 and BRCA2 mutations were identified and evaluated for CBC events and radiation treatment history. Patients with inadequate clinical follow-up, those with bilateral synchronous breast cancer and those undergoing bilateral mastectomy within one year of the original breast cancer diagnosis were excluded from the analysis. Chi-square test was used to compare CBC rates with or without prior radiation separately in patients testing positive and those testing negative for BRCA mutations. Results: Of 115 identified breast cancer patients tested for BRCA mutations, 57 met the inclusion criteria. Twenty-one carried BRCA1 or BRCA2 mutations and 36 tested negative for these mutations. Median follow-up for the two groups was 69.5 months (92 months in BRCA positive group and 51.5 months in BRCA negative group). Median age at diagnosis was 45 years (41 years in BRCA positive group and 48.5 in BRCA negative group). Among the 21 carriers, 9 patients (43%) developed CBC while only 3 of 36 patients (8%) testing negative for BRCA mutations developed CBC. Thirteen of 21 mutation carriers (62%) had received radiation treatment for the original cancer: CBC occurred in 3 of 13 (23%) radiated patients and 6 of 8 (75%) patients who had not received radiation (p= 0.02). Among 36 patients with negative BRCA testing, 30 (83%) had received radiation: CBC occurred in 3 of 30 (10%) mutation negative patients who had received prior radiation and in 0 of the 6 patients who had not received radiation (p = 0.42). Conclusions: CBC incidence was higher among BRCA mutation carriers than a control group suspected of having hereditary breast cancer but testing negative for these mutations. The use of radiation in the presence of a BRCA mutation, however, does not appear to further increase the risk for CBC. No significant financial relationships to disclose.
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Brankovic-Magic, Mirjana, Jelena Dobricic, Radmila Jankovic, Irene Konstantopoulou, Drakoulis Yannoukakos, and Sinisa Radulovic. "Identifying and testing for hereditary susceptibility to breast/ovarian cancer in Serbia: Where are we now?" Archive of Oncology 14, no. 3-4 (2006): 131–35. http://dx.doi.org/10.2298/aoo0604131b.

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About 90% of all breast cancers can be considered as sporadic, without inherited gene alteration. The rest of breast cancers (about 5 to 10%) are considered hereditary, most commonly caused by alterations of BRCA1/2 tumor suppressor genes. Lifetime risks for breast and ovarian cancers are increased among BRCA1/2 mutation carriers - 4 to 8 and 10 to 20 fold higher respectively. Due to the small proportion of hereditary form of disease, as well as to the high cost, BRCA testing is not screening test for general population. It is addressed to selected part of population that fit to recommended criteria. Full coding region sequencing of both genes is "gold standard" for detection of BRCA mutation. Concerning BRCA testing in Serbia, complete or partial sequencing of BRCA1/2 coding region was performed in 60 samples. The presence of 4 BRCA1 known mutations, previously detected elsewhere, has been shown: 185delAG, C61G, 3447del4 and 5382insC (detected twice). In BRCA1 gene, exon 16, an unclassified variant M1652I was found. Polymorphic variants in BRCA1 (8 polymorphisms) and BRCA2 (5 polymorphisms) genes were also detected. The majority of found BRCA1 and BRCA2 polymorphic variants are the missense ones and their influence on breast/ovarian cancer risk in our population has to be proved. Identification of BRCA mutations carriers and establishment of spectra and frequency of BRCA mutations should enable introduction of BRCA1/2 testing into the clinical practice of Serbia. .
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Schwartz, Zachary Phillip, Mae Zakhour, Andrew John Li, Christine S. Walsh, Bj Rimel, Monica Alvarado, Scott E. Lentz, and Ilana Cass. "Comparison of risk-reducing surgery in women with BRCA and non-BRCA ovarian cancer susceptibility genes." Journal of Clinical Oncology 37, no. 15_suppl (May 20, 2019): 1547. http://dx.doi.org/10.1200/jco.2019.37.15_suppl.1547.

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1547 Background: Risk reducing gynecologic surgery (RRSO) is standard of care for women with BRCA mutations. The optimal management for women with non-BRCA ovarian cancer susceptibility mutations remains unclear. We sought to characterize the practice patterns for these women at our two institutions. Methods: Women with germline ovarian cancer susceptibility genes who had a RRSO were identified from 1/2000-1/2019 in an IRB approved study. All patients were asymptomatic with no suspicion for malignancy at time of RRSO. Clinico-pathologic characteristics were extracted from the medical records. Continuous variables were analyzed with Kruskal-Wallis and categorical variables analyzed with chi square and t-tests. Results: 152 BRCA1, 95 BRCA2, and 63 Non-BRCA mutation carriers were identified—50 Lynch (22 MLH1, 13 MSH2, 13 MSH6, 2 PMS2) and 13 Other (6 BRIP1, 2 RAD51C, 5 RAD51D). There was no difference between age at testing, age at RRSO, and interval between testing and RRSO between groups. Genetic counseling was higher in Non-BRCA patients. Family history of ovarian cancer was more common in women with BRCA1 and Other germline mutations compared to BRCA2 and Lynch. Family and personal history of breast cancer was high in all groups except Lynch carriers. Prophylactic mastectomy was seen mostly in BRCA mutation carriers. Concomitant hysterectomy was performed in the majority of women (BRCA1 59%, BRCA2 57%, and Other 62%), with the highest frequency in Lynch carriers (86%, p<.01). Occult cancer was only seen in BRCA mutation carriers: BRCA1 (7%), BRCA2 (2%), Lynch (0%), Other (0%). Conclusions: In this cohort, women with Non-BRCA mutations are managed similarly to women with BRCA mutations. We observed no occult cancers in Non-BRCA patients. The optimal role of surgery as a risk reducing strategy in this group requires further study. [Table: see text]
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Holter, Spring, Ayelet Borgida, Anna Dodd, Robert Grant, Kara Semotiuk, David Hedley, Neesha Dhani, et al. "Germline BRCA Mutations in a Large Clinic-Based Cohort of Patients With Pancreatic Adenocarcinoma." Journal of Clinical Oncology 33, no. 28 (October 1, 2015): 3124–29. http://dx.doi.org/10.1200/jco.2014.59.7401.

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Purpose The main purpose of this study was to determine the prevalence of pathogenic BRCA1 and BRCA2 mutations in a consecutively ascertained clinic-based cohort of patients with pancreatic ductal adenocarcinoma and describe the clinical and family history characteristics. Patients and Methods Unselected, consecutive, incident patients with pancreatic ductal adenocarcinoma were recruited at a single cancer center over a 2-year period. Participants provided blood for DNA analysis and cancer family history, and cancer treatment records were reviewed. DNA from all patients was analyzed by Sanger sequencing and multiplex ligation-dependent probe amplification for germline variants in BRCA1 and BRCA2. Results Three hundred six patients were eligible for analysis. Pathogenic germline BRCA mutations were identified in 14 patients (4.6%; 95% CI, 2.2% to 6.9%), including 11 patients with a BRCA2 mutation and three patients with a BRCA1 mutation. Having a cancer family history that met genetic testing criteria of the National Comprehensive Cancer Network or the Ontario Ministry of Health and Long-Term Care or self-reporting as Ashkenazi Jewish was significantly associated with BRCA mutation carrier status (P = .02, P < .001, and P = .05, respectively). However, the majority of the BRCA mutation–positive patients did not actually meet these genetic testing criteria. Conclusion Pathogenic BRCA mutations were identified in 4.6% of a large cohort of clinic-based patients. Considering the implications for family members of BRCA carriers, and possibly tailored chemotherapeutic treatment of patients, our finding has implications for broader BRCA genetic testing for patients with pancreatic ductal adenocarcinoma.
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Toss, Angela, Eleonora Molinaro, Marta Venturelli, Federica Domati, Luigi Marcheselli, Simonetta Piana, Elena Barbieri, et al. "BRCA Detection Rate in an Italian Cohort of Luminal Early-Onset and Triple-Negative Breast Cancer Patients without Family History: When Biology Overcomes Genealogy." Cancers 12, no. 5 (May 15, 2020): 1252. http://dx.doi.org/10.3390/cancers12051252.

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NCCN Guidelines recommend BRCA genetic testing in individuals with a probability >5% of being a carrier. Nonetheless, the cost-effectiveness of testing individuals with no tumor family history is still debated, especially when BRCA testing is offered by the national health service. Our analysis evaluated the rate of BRCA pathogenic or likely-pathogenic variants in 159 triple-negative breast cancer (TNBC) patients diagnosed ≤60 years, and 109 luminal-like breast cancer (BC) patients diagnosed ≤35 without breast and/or ovarian family histories. In TNBC patients, BRCA mutation prevalence was 22.6% (21.4% BRCA1). Mutation prevalence was 64.2% ≤30 years, 31.8% in patients aged 31–40, 16.1% for those aged 41–50 and 7.9% in 51–60 s. A total of 40% of patients with estrogen receptors (ER) 1–9% were BRCA1 carriers. BRCA detection rate in early-onset BCs was 6.4% (4.6% BRCA2). Mutation prevalence was 0% between 0–25 years, 9% between 26–30 years and 6% between 31–35 years. In conclusion, BRCA testing is recommended in TNBC patients diagnosed ≤60 years, regardless of family cancer history or histotype, and by using immunohistochemical staining <10% for both ER and/PR. In luminal-like early-onset BC, a lower BRCA detection rate was observed, suggesting a role for other predisposing genes along with BRCA genetic testing.
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Shatavi, Seerin Viviane, Lindsay Dohany, Mohammad Muhsin Chisti, Ishmael A. Jaiyesimi, and Dana Zakalik. "Unique genetic characteristics of BRCA mutation carriers in a cohort of Arab American women." Journal of Clinical Oncology 31, no. 15_suppl (May 20, 2013): 1541. http://dx.doi.org/10.1200/jco.2013.31.15_suppl.1541.

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1541 Background: Worldwide ethnic variations in the distribution of BRCA1 and BRCA2 mutations of breast cancer patients have been recently recognized. This has led to investigations of the epidemiology, genetics and clinical characteristics of BRCA positive individuals within specific populations. This study aims to describe the findings of BRCA genetic testing in a cohort of Arab American women. Methods: A total of 73 women of Arab ancestry were evaluated in the Beaumont Cancer Genetics Program from Jan 2008 to Jan 2013. Criteria for genetic testing included a personal or family history suggestive of Hereditary Breast and Ovarian Cancer Syndrome (HBOC). Patients underwent comprehensive genetic counseling, followed by full sequence analysis for germline mutations in BRCA1 and BRCA2. Results: 63 women of Arab ancestry underwent genetic testing for BRCA1 and BRCA2. 13 (21%) patients were found to be mutation carriers, of whom 10 (16%) of the 63 had deleterious mutations (7 in BRCA2, and 3 in BRCA1), and 3 (5%) had variants of undetermined significance (VUS) in BRCA2. Of the 10 patients with deleterious mutations, 4 (40%) unrelated individuals had the same mutation, 5804del4, in exon 11 of BRCA2. The remaining patients had deleterious mutations in exon 2, exon 20, and exon 13 of BRCA2; one patient had a BRCA1 and BRCA2 mutation (exon 18). 7 of 10 patients with deleterious mutations had a cancer diagnosis, of which 5 had breast cancer, 1 had ovarian cancer, 1 had pancreatic cancer, and 3 were unaffected. Conclusions: This study demonstrates that BRCA mutations (predominantly in BRCA2) were seen in a significant proportion of Arab American women undergoing genetic testing for HBOC. A mutation in BRCA2, 5804del4, was seen in nearly half (4/10) of the carriers of deleterious mutations. This mutation, in exon 11, has not previously been associated with Arab ethnicity and may represent a founder mutation. Knowledge of the genetic spectrum, frequency, and clinical characteristics of BRCA mutation carriers will lead to greater understanding of hereditary cancer in Arab American women.
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Matsubara, Nobuaki, Johann S. De Bono, David Olmos, Giuseppe Procopio, Satoru Kawakami, Yuksel Urun, Robbert J. van Alphen, et al. "Olaparib efficacy in patients with metastatic castration-resistant prostate cancer (mCRPC) carrying circulating tumor (ct) DNA alterations in BRCA1, BRCA2 or ATM: Results from the PROfound study." Journal of Clinical Oncology 39, no. 6_suppl (February 20, 2021): 27. http://dx.doi.org/10.1200/jco.2021.39.6_suppl.27.

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27 Background: ctDNA testing offers additional opportunities for homologous recombination repair (HRR) gene alteration determination in patients who are not able to access tumor tissue testing. Alteration testing in ctDNA, for BRCA1, BRCA2 and ATM alterations was performed retrospectively in the PROfound study (phase 3 trial of olaparib versus physician’s choice of abiraterone or enzalutamide in men with HRR gene-mutated mCRPC [NCT02987543]). Methods: ctDNA samples were sequenced at FMI, using the FoundationOne Liquid CDx assay for alterations in BRCA1, BRCA2 (BRCA) and ATM, using plasma samples collected during screening in PROfound. Only patients who consented and provided plasma samples from Cohort A (BRCA/ ATM alteration positive by tissue testing) were tested for ctDNA alterations. Radiographic progression-free survival (rPFS) assessed by blinded independent central review (BICR) in patients positive for alterations in ctDNA was analysed via stratified log-rank test. Additional efficacy endpoints (Objective Response Rate [ORR], Overall Survival[OS]) were also assessed. Results: In total, 181/245 (73.9%) Cohort A patients consented and provided a plasma sample for ctDNA testing, of which 139/181 (76.8%) had a ctDNA result reported (either mutation positive or mutation negative) and 42 patient samples failed testing due to insufficient DNA yield or a technical failure of the test.BRCA/ ATM alterations were identified in111/139 (79.9%) patients and 28/139 patients did not report a BRCA/ATM mutation either due to lack of ctDNA shedding from the tumour or ctDNA levels below the sensitivity of the assay. Patients who carried BRCA/ ATM ctDNA alterations had comparable demography, baseline characteristics and proportions of BRCA1, BRCA2 and ATM mutated patients to the overall Cohort A patients. rPFS by BICR results, in patients with BRCA/ ATM alterations in ctDNA, are presented in the Table. Key secondary efficacy endpoints (ORR, OS) will also be reported for ctDNA alteration positive patients. Conclusions: ctDNA testing in patients with mCRPC is feasible and most, but not all patients have concordant results. Patients who were positive for alterations in BRCA1, BRCA2 or ATM showed a consistent rPFS improvement (hazard ratio [HR] 0.33 [0.21, 0.53]) when compared with the ITT population identified by tumor tissue testing (HR 0.34 [0.25, 0.47]). This suggests that using ctDNA to identify patients carrying BRCA1, BRCA2 or ATM alterations who will benefit from olaparib may be beneficial. Clinical trial information: NCT02987543. [Table: see text]
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Murciano-Goroff, Yonina R., Alison M. Schram, Ezra Rosen, Yelena Y. Janjigian, Michael F. Berger, Mark Donoghue, Chaitanya Bandlamudi, and Alexander E. Drilon. "BRCA reversion mutations in a pan-cancer cohort to reveal BRCA-dependence in select noncanonical BRCA-mutant histologies." Journal of Clinical Oncology 39, no. 15_suppl (May 20, 2021): 3012. http://dx.doi.org/10.1200/jco.2021.39.15_suppl.3012.

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3012 Background: Loss of BRCA1/2 function leads to homologous recombination deficiency (HRD) and can enhance platinum and PARP inhibitor sensitivity in breast, pancreas, prostate, and ovarian cancers. In BRCA-associated cancers, resistance can result from the development of BRCA1/2 reversion mutations, which restore BRCA1/2 function. By contrast, a BRCA mutation may be an incidental finding in other tumor histologies. Methods: To determine the distribution of reversion mutations in a pan-cancer cohort, the MSK-IMPACT clinical sequencing cohort was mined to identify patients who had both a germline BRCA1/2 mutation and a frameshift somatic reversion mutation that restored BRCA1/2 function. Whole exome resequencing was used to detect HRD signatures. Chart review enabled collection of data on treatment history in patients consented to germline testing. Results: Of the 33,277 patients with matched tumor and normal sequencing profiled in this study, 861 patients were found to have germline pathogenic BRCA1/2 alterations, including 347 (40%) in BRCA1 and 514 (60%) in BRCA2. Somatic BRCA1/2 driver alterations were also found in tumor tissue from an additional 447 patients, with 156 (35%) having BRCA1 mutations, and the remainder having alterations in BRCA2 (65%) . Among the 1,308 germline or somatic BRCA1/2 mutant tumors, we identified reversion mutations in 12 patients, all of whom were germline carriers of BRCA1/2, comprising 3 BRCA1 and 9 BRCA2 tumors. 7 patients consented to germline testing enabling review of clinical characteristics and treatment history, 5 of whom received PARP inhibitor or platinum-therapy prior to reversion detection. Ten of 12 tumors with reversion mutations were in canonical BRCA-associated cancers. Interestingly, reversion mutations were also found in patients with lung adenocarcinoma (n=1) and gastroesophageal junction adenocarcinoma (n=1). In both these non-canonical histologies, the reversion was detected following progression on platinum-based therapy. Whole exome resequencing of the lung tumor revealed the classic somatic molecular phenotypes of HRD that are characteristic of BRCA-dependent tumors, including in terms of large-scale transitions, HRD-loss of heterozygosity, signature 3, and the number of telomeric allelic imbalance score. Conclusions: Matched tumor and normal sequencing from a large cohort of patients with diverse cancer histologies reveals that reversion mutations are found across BRCA-associated cancer types. In rare cases, reversion mutations in BRCA1/2 following platinum-based therapy may be indicative of prior BRCA-dependence in select non-canonical tumor histologies.
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Dissertations / Theses on the topic "BRCA testing"

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Pack, Jessica K. B. A. "The Impact of the Myriad Direct-to-Consumer Advertising Campaign for BRCA1/2 Genetic Testing in the Greater Cincinnati Area." University of Cincinnati / OhioLINK, 2011. http://rave.ohiolink.edu/etdc/view?acc_num=ucin1311692006.

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Ferlatte, Christy. "Patient preferences for an appropriate time for cancer genetic counseling and BRCA testing for women diagnosed with breast cancer." Waltham, Mass. : Brandeis University, 2009. http://dcoll.brandeis.edu/handle/10192/23193.

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Christopher, Juleen L. "An Examination of Dimensions of Perceived Behavioral Control Regarding Genetic Counseling and Testing for BRCA 1 and BRCA 2 in African-American Women at Moderate to High-Risk for Breast Cancer." Diss., Virginia Tech, 2010. http://hdl.handle.net/10919/77364.

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Breast cancer affects thousands of women each year and among those diagnosed, African-American women (AAW) make up a significant proportion that are diagnosed with early onset disease, have larger tumors, greater lymph node involvement, higher mortality and lower survival rates. Studies examining factors associated with greater breast cancer morbidity and mortality in this group have suggested that they may differ from Caucasian women in terms of certain risk factors for breast cancer; however, other evidence suggests that the risk of developing breast cancer is similar among African-American and Caucasian women who have a family history of breast cancer. As such, access to genetic counseling and testing (GC/T) services would be an important part of cancer control for this group but in this fast moving area of medicine African-American women are being "left behind". It is unclear why AAW have not readily adopted these preventive services. In light of the paucity of evidence regarding explanations of underuse, it is possible that important factors such as perceived behavioral control (PBC) in the Theory of Planned Behavior may help explain African-American women's participation in genetic counseling and testing for BRCA 1/2. The goals of this mixed methods study were twofold; first, to explore levels of perceived behavioral control and general motivations regarding genetic counseling and testing for BRCA 1/2 in African-American women at moderate to high-risk for breast and ovarian cancer and second, to explore the dimensionality of the perceived behavioral control construct from the Theory of Planned Behavior (TPB) and its utility in understanding underuse of BRCA 1/2 genetics services in this group. African-American women are being "left behind". Overall, women had high levels of perceived behavioral control, low knowledge and positive attitudes towards genetic counseling and testing for BRCA 1/2. Results from the principal components analysis lent support for the dimensionality of the perceived behavioral control construct suggesting that it indeed could be thought of as made up of the constructs perceived control [P-C] and perceived difficulty [P-D]. Only perceived control was found to be associated with genetic testing intentions suggesting that it was a better predictor. Neither scale was associated with genetic counseling intentions. African-American women are being "left behind". Future research should focus on educational efforts geared towards highlighting the utility of genetic counseling in addition to genetic testing for BRCA 1/2. Theoretical implications include using two measures to assess aspects of perceived behavioral control (perceived difficulty [P-D] and perceived control [P-C]) instead of one PBC measure. Additionally, studies using the TPB model should include the constructs of spirituality and knowledge when trying to understand underuse of BRCA 1/2 genetic services in African-American women at moderate to high-risk for breast cancer. African-American women are being "left behind".
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Chadwell, Sarah E. B. S. "Factors Influencing Clinical Follow-up for Individuals with a Personal History of Breast and/or Ovarian Cancer and Previous Negative or Uncertain BRCA1 and BRCA2 Testing." University of Cincinnati / OhioLINK, 2017. http://rave.ohiolink.edu/etdc/view?acc_num=ucin1491317215551797.

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Elliott, Diana. "The impact of genetic counselling for familial breast cancer on women's psychological distress, risk perception and understanding of BRCA testing." University of Western Australia. School of Population Health, 2008. http://theses.library.uwa.edu.au/adt-WU2008.0190.

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[Truncated abstract] Background: A review of the literature indicated there was a need for more long-term randomised controlled studies on the effects of BRCA counselling/testing on high risk women, including improved strategies for risk communication. Reviews have also shown women are confused about the significance of inconclusive or non informative results with a need for more research in this area. Aims: The general aim of this study was to evaluate the impact of breast cancer genetic counselling on psychological distress levels, perception of risk, genetic knowledge and understanding of BRCA testing/test results in a cohort of 207 women from high risk breast cancer families who were referred for genetic counselling in Perth during the period 1997 to 2001. Short- and long-term impact of BRCA genetic counselling/testing was determined in women with and without cancer in a randomised controlled trial as part of which women were randomised to either receive immediate versus delayed genetic counselling. This included family communication patterns before BRCA testing, anticipated outcomes of testing on oneself and family including intentions for result disclosure. Comprehension of index and predictive BRCA testing with possible results was assessed both in the short- and the long-term and understanding of individual or family BRCA test results was evaluated at long-term. The effect of genetic counselling on breast cancer risk perception in unaffected women was evaluated. This study considered a theoretical framework of educational learning theories to provide a basis for risk communication with possible relevance for future research. ... Only 25% of the original study population (52/207) reported BRCA results and women's understanding of results is concerning. Key findings were: 1. The majority of affected women received an inconclusive result. 2. Out of twelve unaffected women who reported results, seven were inconclusive which are not congruent with predictive testing. This implies that these women did not understand their test result. 3. A minority of untested relatives did not know whether a family mutation had or had not been found in their tested family member or what their actual test result was. This implies either a lack of disclosure or that woman did not understand the rationale for and significance of testing for a family mutation. 4. Three relatives did not understand a positive result was a mutation. Conclusion: The implication of this research for breast cancer counselling and testing services is that women who wait for counselling are no worse off in terms of short- or long-term general psychological distress than women who receive the intervention early. There is a suggestion that unaffected women without the disease found counselling more advantageous than affected women. The meaning of BRCA results as reported by women is concerning particularly women's understanding of negative and inconclusive results and further research is needed in this area. Too much information presented at counselling may affect women's comprehension of risk, BRCA testing and future test results and further research is required to evaluate the effects of information overload.
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Arver, Brita. "Hereditary breast/ovarian cancer : implementation of BRCA1 & BRCA2 testing /." Stockholm, 2001. http://diss.kib.ki.se/2001/91-628-4799-6/.

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Keenan, Lisa A. "Family Environment, Social Support, and Psychological Distress of Women Seeking BRCA1 and BRCA2 Genetic Mutation Testing." Thesis, University of North Texas, 2002. https://digital.library.unt.edu/ark:/67531/metadc3240/.

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Shared characteristics and predictors of psychological distress are beginning to be identified in research on women seeking genetic testing for BRCA1 and BRCA2 gene mutations. This study further explored patterns of psychological distress for 51 community women waiting to receive such genetic test results. There was no significant relationship between psychological distress and family cancer history, personal cancer history, social support networks, and family environment. Women in this sample tended to rely more on females and relatives for support than males and friends. Social support satisfaction was not related to gender or number of relatives providing support. Thirty-four of the 36 women classified on the family environment type were from Personal Growth-Oriented families. Comparisons with normal and distressed family means revealed increased cohesion and expressiveness with decreased conflict, indicative of supportive family environments. Limitations and implications are discussed.
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Doughty, Courtney R. "Retrospective Comparison of In-person versus Telephone Results Disclosure Counseling for BRCA1/2 Genetic Testing." University of Cincinnati / OhioLINK, 2008. http://rave.ohiolink.edu/etdc/view?acc_num=ucin1211940755.

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Lesniak, Karen. "Psychological and Sociodemographic Predictors of Psychological Distress in BRCA1 and BRCA2 Genetic Testing Participants within a Community Based Genetic Screening Program." Thesis, University of North Texas, 2000. https://digital.library.unt.edu/ark:/67531/metadc2565/.

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Mutations in BRCA1 and BRCA2, the first two breast cancer susceptibility genes identified, carry as much as an 85% lifetime risk of developing breast, ovarian or other cancers. Genetic testing for mutations in these two genes has recently become commercially available. There have been varying amounts of psychological distress noted among women with a family history of breast cancer. Distress has been observed to impact psychological functioning, activities of daily living, and the practice of breast cancer surveillance behaviors. Within the genetic screening process, psychological distress has been shown to impact the decision to undergo genetic screening, the comprehension and retention of risk assessment information, as well as affecting the subject following the receipt of the genetic test results. Little work has been done to examine predictors of distress within at risk subjects. This study examines psychological distress among 52 community women presenting for BRCA1 and BRCA2 genetic mutation testing. Predictors of distress included family cancer history, education, age, Ashkenazi ethnicity, and Internality and Powerful Others Health Locus of Control. Vulnerable sub-groups of patients include younger women, women with higher levels of education and women of Ashkenazi ethnicity.
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Coltri, Julia Anne. "Transgender male patients and hereditary breast cancer risk: broaching difficult topics to reduce healthcare disparities." The Ohio State University, 2019. http://rave.ohiolink.edu/etdc/view?acc_num=osu1555683611281611.

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Books on the topic "BRCA testing"

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Waiting for cancer to come: Women's experiences with genetic testing and medical decision making for breast and ovarian cancer. University of Michigan Press, 2014.

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Canadian Coordinating Office for Health Technology Assessment., ed. A clinical systematic review of BRCA1 and BRCA2 genetic testing for breast and ovarian cancers. Ottawa: Canadian Coordinating Office for Health Technology Assessment, 2006.

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Lynda, McGahan, and Canadian Coordinating Office for Health Technology Assessment, eds. BRCA1 and BRCA2 predictive genetic testing for breast and ovarian cancers: A systematic review of clinical evidence. Ottawa: CCOHTA, 2006.

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National Institutes of Health (U.S.). Clinical Center. and National Institutes of Health (U.S.). Office of Clinical Center Communications., eds. Answers to your questions: Testing for BRCA1. [Bethesda, Md.?]: The Warren Grant Magnuson Clinical Center, 1996.

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National Institutes of Health (U.S.). Clinical Center and National Institutes of Health (U.S.). Office of Clinical Center Communications, eds. Answers to your questions: Testing for BRCA1. [Bethesda, Md.?]: The Warren Grant Magnuson Clinical Center, 1996.

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Book chapters on the topic "BRCA testing"

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Pearman, Timothy. "Psychological Implications of Testing Positive for the BRCA Gene." In Management of the Patient at High Risk for Breast Cancer, 155–60. New York, NY: Springer New York, 2012. http://dx.doi.org/10.1007/978-1-4614-5891-3_11.

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Rio, P., and H. Hanenberg. "Functional Knock-Down of Human RAD51 for Testing the Fanconi Anemia-BRCA Connection." In Fanconi Anemia, 211–25. Basel: KARGER, 2007. http://dx.doi.org/10.1159/000102559.

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Bowles, Karla R., and Eric Rosenthal. "BRCA1 and BRCA2 Testing in Inherited Breast Cancer." In Molecular Diagnostics, 167–89. New York, NY: Springer New York, 2013. http://dx.doi.org/10.1007/978-1-4614-8127-0_10.

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Lerman, Caryn, and Beth N. Peshkin. "Psychosocial Issues in BRCA1/2 Testing." In Breast Cancer, 247–66. Totowa, NJ: Humana Press, 1999. http://dx.doi.org/10.1007/978-1-59259-456-6_11.

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LIU, JENNIFER, and JIMMIE C. HOLLAND. "Psychological Aspects of Ovarian Cancer and BRCA Testing." In Diagnosis and Management of Ovarian Disorders, 545–53. Elsevier, 2003. http://dx.doi.org/10.1016/b978-012053642-9/50043-0.

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Esplen, Mary Jane, Jonathan Hunter, and Eveline M. A. Bleiker. "Psychosocial Issues in Genetic Testing for Breast/Ovarian Cancer." In Psycho-Oncology, edited by Paul B. Jacobsen, 95–101. Oxford University Press, 2021. http://dx.doi.org/10.1093/med/9780190097653.003.0014.

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Approximately 10% of all breast cancers are due to hereditary factors, with the majority caused by mutations in two autosomal dominant breast cancer genes, BRCA1 and BRCA2. Mutations in these genes are associated with cumulative risks of breast cancer of 72% in BRCA1 mutation carriers and 69% in BRCA2 mutation carriers by age 80. Mutation carriers who develop breast cancer have elevated risk for contralateral breast cancer. BRCA1/2 mutations also place women at elevated risk for ovarian cancer. Genetic counseling and testing are available to individuals, with or without cancer, to inform health-related decision-making. While genetic knowledge offers opportunities for prevention, including prophylactic risk-reducing surgery, a number of psychological and social challenges have been identified in the BRCA1/2 population. This chapter provides a broad overview of seminal research on the psychosocial impacts of genetic testing in BRCA1/2 with the goal of helping readers better identify, evaluate, and treat psychosocial challenges stemming from the process of genetic testing. Identifiable risk factors for psychosocial distress during the genetic counseling process are summarized. The chapter points toward key psychometric instruments designed to support psychosocial screening in cancer genetic populations. Further, a summary of intervention strategies to support psychosocial adaptation to genetic testing is provided.
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Biesecker, Barbara B., Kathryn F. Peters, and Robert Resta. "Applying Ethical Theories to Genetic Counseling Practice." In Advanced Genetic Counseling, 89–110. Oxford University Press, 2019. http://dx.doi.org/10.1093/med/9780190626426.003.0006.

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Genetic counseling engenders thorny ethical issues that expand as genetic testing technology continues to evolve. Genetic counselors are frequently faced with bioethical dilemmas that, by their very nature, are not easily resolved. This chapter reviews some of the common ethical frameworks for considering ethically complex situations—deontology, casuistry, principilism, and feminist ethics. These ethical approaches are illustrated by applying them to a case of a mother who is a BRCA mutation carrier and is trying to make a decision about genetic testing for her fourteen-year-old daughter. No one ethical framework will be applicable to all genetic counseling dilemmas, but familiarity with these different approaches can help counselors better understand the value of each approach in assessing a variety of clinical situations. A model is presented showing how to manage, think about, and think through ethical dilemmas.
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"COMMUNITY, THE COMMONS AND COMMERCE: THE OWNERSHIP OF BRCA GENES AND GENETIC TESTING." In Contesting Moralities, 55–70. UCL Press, 2017. http://dx.doi.org/10.4324/9781843147725-13.

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Schmidt, Marjanka K., Alexandra J. van den Broek, Mark E. Robson, Ornella Campanella, Soo Hwang Teo, Irene L. Andrulis, Eveline M. Bleiker, and Fred H. Menko. "Genetics." In Breast cancer: Global quality care, edited by Hans Junkermann, Wolfgang Buchberger, Sylvia Heywang-Köbrunner, Michael Michell, Alexander Mundinger, Carol Benn, and Sophia Zackrisson, 234–50. Oxford University Press, 2019. http://dx.doi.org/10.1093/med/9780198839248.003.0021.

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Abstract: About 10–30% of breast cancers are estimated to be explained by known (mostly modifiable) lifestyle and environmental factors; this is population dependent. Another 20–30% of breast cancers can be explained by germline genetics. For women with pathogenic BRCA1 and BRCA2 mutations, the risk of developing breast cancer is estimated to be between 27% and 80% by age 70 years, compared to a 4–12% lifetime risk for the general female population worldwide. Pathogenic mutations in BRCA1 increase risk for ovarian cancer as well as for a range of other tumours. After genetic testing, the gene mutation status can be used for cancer risk prediction in affected and healthy individuals. But even when no pathogenic variant in an established breast cancer gene is detected, persons can still be at increased risk of breast cancer due to a mutation in a gene that was not tested, or more likely, a probably polygenic, heritable component that is not (yet) known. With all the technical advances that have been made in sequencing in recent years, gene panel testing has been developed, enabling testing for mutations, simultaneously, in a set of multiple genes. Currently, genetic testing and breast cancer risk prediction is mainly done for high-risk individuals and families in the clinical genetic setting. However, the infrastructures for implementation of population-based genetic testing are under development.
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Brooks, Lucy, Andrew Shenton, F. I. Lalloo, and D. G. R. Evans. "BRCA1/2 testing: uptake and its measurement." In Familial Breast and Ovarian Cancer, 306–38. Cambridge University Press, 2002. http://dx.doi.org/10.1017/cbo9780511545863.021.

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Conference papers on the topic "BRCA testing"

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Manchanda, Ranjit. "Abstract IS01: Brca testing in high-risk populations." In Abstracts: 10th Biennial Ovarian Cancer Research Symposium; September 8-9, 2014; Seattle, WA. American Association for Cancer Research, 2015. http://dx.doi.org/10.1158/1557-3265.ovcasymp14-is01.

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"Case series: Breast and ovarian cancer syndrome." In 16th Annual International Conference RGCON. Thieme Medical and Scientific Publishers Private Ltd., 2016. http://dx.doi.org/10.1055/s-0039-1685348.

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Aims and Objectives: To report a series of cases with breast and ovarian carcinomas either in same patient or in a family and identifying the importance of BRCA 1,2 genetic testing in such individuals. Materials and Methods: The medical records of breast and ovarian cancer patients operated over past 3 years at a single institute were reviewed retrospectively and their clinical profile, family history, final pathological reports and follow up data was collected. Results: 8 patients were found to have breast and ovarian malignancies, out of which 3 had synchronous breast and ovarian cancers, 4 had metachronous and 1 patient with ovarian cancer had history of breast cancer in family. Median age of presentation to the hospital was 47 years and median time interval in metachronous disease patients was 5.5 years. Conclusion: About 5% of people who have breast cancer and about 10% of women who have ovarian cancer have HBOC, caused by germline mutation in BRCA1, 2 gene. These individuals have increased risk of developing breast cancer at younger age, TNBC, or developing a second primary in breast or ovary plus an overall risk of breast/ovarian/prostate/pancreatic malignancies in other family members due to inheritable mutation. Identification of BRCA mutation in such individuals can help family members to undergo genetic counseling and follow different screening and prevention guidelines from general population thus reducing the cancer risks.
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Joseph, G., C. Wilcox, J. Luce, and MS Beattie. "BRCA testing in underserved women: a qualitative study of intepretations and impacts." In CTRC-AACR San Antonio Breast Cancer Symposium: 2008 Abstracts. American Association for Cancer Research, 2009. http://dx.doi.org/10.1158/0008-5472.sabcs-3109.

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"Case series: Breast and ovarian cancer syndrome." In 16th Annual International Conference RGCON. Thieme Medical and Scientific Publishers Private Ltd., 2016. http://dx.doi.org/10.1055/s-0039-1685364.

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Aims and Objectives: To report a series of cases with breast and ovarian carcinomas either in same patient or in a family and identifying the importance of BRCA 1, 2 genetic testing in such individuals. Materials and Methods: The medical records of breast and ovarian cancer patients operated over past 3 years at a single institute were reviewed retrospectively and their clinical profile, family history, final pathological reports and follow up data was collected. Results: 8 patients were found to have breast and ovarian malignancies, out of which 3 had synchronous breast and ovarian cancers, 4 had metachronous and 1 patient with ovarian cancer had history of breast cancer in family. Median age of presentation to the hospital was 47 years and median time interval in metachronous disease patients was 5.5 years. Conclusion: About 5% of people who have breast cancer and about 10% of women who have ovarian cancer have HBOC, caused by germline mutation in BRCA 1, 2 gene. These individuals have increased risk of developing breast cancer at younger age, TNBC, or developing a second primary in breast or ovary plus an overall risk of breast/ovarian/prostate/pancreatic malignancies in other family members due to inheritable mutation. Identification of BRCA mutation in such individuals can help family members to undergo genetic counseling and follow different screening and prevention guidelines from general population thus reducing the cancer risks.
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Turco, DL, N. Elsayegh, J. Litton, GN Hortobagyi, and B. Arun. "P2-13-04: Testing Women with Invasive Lobular Breast Cancer for BRCA Mutations." In Abstracts: Thirty-Fourth Annual CTRC‐AACR San Antonio Breast Cancer Symposium‐‐ Dec 6‐10, 2011; San Antonio, TX. American Association for Cancer Research, 2011. http://dx.doi.org/10.1158/0008-5472.sabcs11-p2-13-04.

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Manchanda, R., M. Burnell, F. Gaba, R. Desai, J. Wardle, S. Gessler, L. Side, et al. "Randomised trial of unselected BRCA testing in ashkenazi jews: long term outcomes and factors affecting uptake of testing." In ESGO Annual Meeting Abstracts. BMJ Publishing Group Ltd, 2019. http://dx.doi.org/10.1136/ijgc-2019-esgo.15.

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Guo, Fangjian, Erika L. Fuchs, Abbey B. Berenson, and Yong-Fang Kuo. "Abstract 652: Racial/ethnic differences in BRCA testing and test results among adult women." In Proceedings: AACR Annual Meeting 2019; March 29-April 3, 2019; Atlanta, GA. American Association for Cancer Research, 2019. http://dx.doi.org/10.1158/1538-7445.sabcs18-652.

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Park, Hyung Seok, Seo Jin Park, Sanghwa Kim, Jegyu Ryu, Jee Ye Kim, Seho Park, Seung Il Kim, Joo Hyuk Sohn, and Jong Rak Choi. "Abstract OT2-4-02: Testing BRCA 1/2 mutation using next generation sequencing (BRCANGS)." In Thirty-Seventh Annual CTRC-AACR San Antonio Breast Cancer Symposium; December 9-13, 2014; San Antonio, TX. American Association for Cancer Research, 2015. http://dx.doi.org/10.1158/1538-7445.sabcs14-ot2-4-02.

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Guo, Fangjian, Erika L. Fuchs, Abbey B. Berenson, and Yong-Fang Kuo. "Abstract 652: Racial/ethnic differences in BRCA testing and test results among adult women." In Proceedings: AACR Annual Meeting 2019; March 29-April 3, 2019; Atlanta, GA. American Association for Cancer Research, 2019. http://dx.doi.org/10.1158/1538-7445.am2019-652.

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Smith, Demetria J., Christopher Sauter, Chao Zhang, Zhengjia Chen, and Keerthi Gogineni. "Abstract B34: Patterns of BRCA testing at a safety net compared to a university hospital." In Abstracts: Tenth AACR Conference on The Science of Cancer Health Disparities in Racial/Ethnic Minorities and the Medically Underserved; September 25-28, 2017; Atlanta, GA. American Association for Cancer Research, 2018. http://dx.doi.org/10.1158/1538-7755.disp17-b34.

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Reports on the topic "BRCA testing"

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Manne, Sharon. Impact of BRCA 1/2 Testing on Marital Relationships. Fort Belvoir, VA: Defense Technical Information Center, May 1999. http://dx.doi.org/10.21236/ada368468.

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Schwartz, Marc D. Long Term Outcomes of BRCA1/BRCA2 Mutation Testing. Fort Belvoir, VA: Defense Technical Information Center, August 2005. http://dx.doi.org/10.21236/ada443929.

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Schwartz, Marc D. Long Term Outcomes of BRCA1/BRCA2 Mutation Testing. Fort Belvoir, VA: Defense Technical Information Center, August 2004. http://dx.doi.org/10.21236/ada429130.

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Schwartz, Marc D. Long Term Outcomes of BRCA1/BRCA2 Mutation Testing. Fort Belvoir, VA: Defense Technical Information Center, August 2007. http://dx.doi.org/10.21236/ada519028.

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Schwartz, Marc D. Long Term Outcomes of BRCA1/BRCA2 Mutation Testing. Fort Belvoir, VA: Defense Technical Information Center, August 2008. http://dx.doi.org/10.21236/ada520553.

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Schwartz, Marc D. Long Term Outcomes of BRCA1/BRCA2 Mutation Testing. Fort Belvoir, VA: Defense Technical Information Center, August 2006. http://dx.doi.org/10.21236/ada461957.

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Hurley, Karen, and William Redd. Decision-Making Regarding Prophylactic Mastectomy and Oophorectomy in Ashkenazi Jewish Women Seeking Genetic Testing for BRCA1/BRCA2 Mutations. Fort Belvoir, VA: Defense Technical Information Center, July 2001. http://dx.doi.org/10.21236/ada396788.

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Manne, Sharon L. Impact of BRCA1/2 Testing on Marital Relationships. Fort Belvoir, VA: Defense Technical Information Center, June 2002. http://dx.doi.org/10.21236/ada404603.

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Manne, Sharon. Impact of BRCA1/2 Testing on Marital Relationships. Fort Belvoir, VA: Defense Technical Information Center, June 2000. http://dx.doi.org/10.21236/ada393337.

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Manne, Sharon. Impact on BRCA1/2 Testing on Marital Relationships. Fort Belvoir, VA: Defense Technical Information Center, June 2001. http://dx.doi.org/10.21236/ada395468.

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