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Academic literature on the topic 'Hereditary breast cancer patient'

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Published: 9 March 2023

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Journal articles on the topic "Hereditary breast cancer patient"

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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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Zarubina, N. A., V. D. Petrova, T. V. Sinkina, S. A. Terekhova, A. F. Lazarev, U. A. Boyarskikh, E. V. Pechkovsky, O. V. Mishukova, and M. L. Filipenko. "Expression of steroids and HER2-neu receptors in breast tumors associated with BRCA1 gene mutations." Journal of Clinical Oncology 27, no. 15_suppl (May 20, 2009): e22223-e22223. http://dx.doi.org/10.1200/jco.2009.27.15_suppl.e22223.

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e22223 Background: Hereditary breast carcinomas that are attributable to BRCA1 mutations have their own morphological and immunohistochemical characteristics. This study was aimed to analyze the level of expression of steroids (estrogen and progesterone) and HER2-neu receptors in BRCA1 associated breast cancer. Methods: DNA patterns from 264 patients with hereditary breast cancers (breast cancer diagnosed at the age under 40; bilateral breast cancer; combination of breast and ovarian cancers; 2 and more breast cancers in blood relatives). All the patients were residents of the Altai Territory. BRCA1 gene mutations were registered in 34 patients (12.9%): 5382insC gene mutation - in 28 patients; 300A/C - in 2 patients; 4153del - in 3 patients; 185del - in 1 patient. The frequency of the BRCA1 5382insC allele mutation was 7.3; 300A/C - 0.52; 4153del - 0.26; 185del - 0.83. Immunohistochemical characteristics of BRCA1-associated breast tumors tissue from these patients were investigated. Results: 32 BRCA1-associated breast carcinomas were estrogen receptor- negative; 1 - week positive (H-score 50–100); 1 - moderate positive (H- score 100–200). 33 BRCA1-associated breast carcinomas were progesterone receptor- negative; 1 - positive (H-score 200 and more). HER2-negative were 31 BRCA1-associated breast carcinomas; 2 were week positive (HER2-neu +); 1 - was moderate positive (HER2-neu ++). Conclusion: BRCA1-associated beast carcinomas have been found to be more frequently estrogen receptor-, progesterone receptor-, and HER2- negative. These data show that hereditary breast cancer associated with BRCA1 gene mutations poses poor prognosis. No significant financial relationships to disclose.
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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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Tan, D. S. P., C. Marchiò, and J. S. Reis-Filho. "Hereditary breast cancer: from molecular pathology to tailored therapies." Journal of Clinical Pathology 61, no. 10 (August 4, 2008): 1073–82. http://dx.doi.org/10.1136/jcp.2008.057950.

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Hereditary breast cancer accounts for up to 5–10% of all breast carcinomas. Recent studies have demonstrated that mutations in two high-penetrance genes, namely BRCA1 and BRCA2, are responsible for about 16% of the familial risk of breast cancer. Even though subsequent studies have failed to find another high-penetrance breast cancer susceptibility gene, several genes that confer a moderate to low risk of breast cancer development have been identified; moreover, hereditary breast cancer can be part of multiple cancer syndromes. In this review we will focus on the hereditary breast carcinomas caused by mutations in BRCA1, BRCA2, Fanconi anaemia (FANC) genes, CHK2 and ATM tumour suppressor genes. We describe the hallmark histological features of these carcinomas compared with non-hereditary breast cancers and show how an accurate histopathological diagnosis may help improve the identification of patients to be screened for mutations. Finally, novel therapeutic approaches to treat patients with BRCA1 and BRCA2 germ line mutations, including cross-linking agents and PARP inhibitors, are discussed.
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Heidari, Alireza, Katrina Schmitt, Maria Henderson, and Elizabeth Besana. "Hereditary immunity in cancer." International Journal of Advanced Chemistry 8, no. 1 (April 28, 2020): 94. http://dx.doi.org/10.14419/ijac.v8i1.30607.

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Cancer is one of the malignant diseases and millions of people worldwide die from cancer annually. Breast cancer diagnosis requires the analysis of images and attributes as well as collecting many clinical and mammography variables. In diagnosis of breast cancer, it is im-portant to determine whether a tumor is benign or malignant. The information about breast cancer risk prediction along with the type of tu-mor are crucial for patients and effective medical decision making. An ideal diagnostic system could effectively distinguish between benign and malignant cells; however, such a system has not been created yet. In this study, a model is developed to improve the prediction probabil-ity of breast cancer. It is necessary to have such a prediction model as the survival probability of breast cancer is high when patients are diagnosed at early stages.
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Ryu, Jai Min, Seok Jin Nam, Seok Won Kim, Jeong Eon Lee, Byung Joo Chae, Se Kyung Lee, and Jonghan Yu. "Prognosis of BRCA1/2-negative breast cancer patients with HBOC risk factors compared with sporadic breast cancer patients without HBOC risk factors." Japanese Journal of Clinical Oncology 50, no. 2 (January 11, 2020): 104–13. http://dx.doi.org/10.1093/jjco/hyz147.

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Abstract Objective Demands for genetic counseling with BRCA1/2 examination have markedly increased. Accordingly, the incidence of uninformative results on BRCA1/2 mutation status has also increased. Because most patients examined for BRCA1/2 mutation have a high risk of hereditary breast and/or ovarian cancer, many patients suffer psychological distress even when the BRCA1/2 result is negative. We compared oncological outcomes between BRCA1/2-negative breast cancer with high risk of hereditary breast and/or ovarian cancer and sporadic breast cancer without risk of hereditary breast and/or ovarian cancer. Methods The criteria for high risk for hereditary breast and/or ovarian cancer were defined as family history of breast and/or ovarian cancer in first- or second-degree relative, early onset breast cancer at &lt;35 years old and bilateral breast cancer. Patients were matched maximally 1:3 into those who identified as negative for BRCA1/2 mutation with risk of hereditary breast and/or ovarian cancer (study group) and those who were not examined for BRCA1/2 mutation without risk for hereditary breast and/or ovarian cancer (control group). Matched variables were pathologic stage, estrogen receptor, progesterone receptor and human epidermal growth factor receptor-2 status. Results All matching variables were successfully matched. Median follow-up duration was 57.8 months. There was no significant difference between the groups in disease-free survival (log-rank P = 0.197); however, the study group showed significantly better overall survival and breast cancer-specific survival (both P &lt; 0.0001). We conducted subgroup analysis in the middle-aged group (36–54) and showed no significant difference for disease-free survival (P = 0.072) but significantly better overall survival and breast cancer-specific survival in the study group (P = 0.002 and P &lt; 0.0001). Conclusions BRCA1/2-negative breast cancer patients who had hereditary breast and/or ovarian cancer risk factors showed similar disease-free survival and better overall survival and breast cancer-specific survival compared with those with sporadic breast cancer without hereditary breast and/or ovarian cancer risk factors.
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Byakhova, M. M., A. B. Semenova, V. N. Galkin, C. V. Homushku, A. E. Zod»binova, M. V. Makarova, E. E. Baranova, et al. "Breast cancer as part of Cowden syndrome." Malignant tumours 12, no. 2 (April 18, 2022): 36–44. http://dx.doi.org/10.18027/2224-5057-2022-12-2.

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Cowden syndrome is a rare disease characterized by multiple hamartomas and increased breast, thyroid, kidney and uterine neoplasm risk. The lifetime breast cancer risk for patients with Cowden syndrome is 85 %, with an average age of diagnosis between 38 and 46 years. The diagnostic criteria for Cowden syndrome have been established by the International Cowden Consortium (ICC) and the National Comprehensive Cancer Network (NCCN), and are regularly revised, but the diagnosis of Cowden syndrome remains difficult due to the variety of phenotypic and clinical features of the disease. At the same time, the genetic variants associated with Cowden syndrome analysis is not a standard for patients with breast cancer.Objective: To demonstrate the non‑BRCA hereditary breast cancer detection using whole genome sequencing on the Cowden syndrome clinical case example.Materials and methods: The article describes a clinical case of a 37‑year‑old female patient with breast cancer, normal intelligence and phenotype, structural abnormalities of the thyroid gland (multinodular goiter). Whole genome sequencing was used to identify clinically significant genetic variants associated with hereditary tumor syndromes.Clinical case: The article presents a brief literature review on the clinical presentation of Cowden syndrome and indications for its molecular diagnosis. Also, the presented clinical case describes patient R., 37 years old female with breast cancer, who underwent treatment in the City Clinical Oncological Hospital № 1 of the Moscow City Health Department in 2021. The patient was fully examined and enrolled in the whole genome sequencing project under the Order № 69 of Moscow Healthcare Department dated February 1, 2021 «Oncogenetic research organization in Moscow». The results revealed a pathogenic variant in the PTEN gene, previously associated with Cowden syndrome.Conclusion: The use of whole genome sequencing allows to identify hereditary tumor syndromes, the clinical manifestation of which may be breast cancer.
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Byakhova, M. M., A. B. Semenova, V. N. Galkin, C. V. Homushku, A. E. Zod»binova, M. V. Makarova, E. E. Baranova, et al. "Breast cancer as part of Cowden syndrome." Malignant tumours 12, no. 2 (April 18, 2022): 36–44. http://dx.doi.org/10.18027/2224-5057-2022-12-2-36-44.

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Cowden syndrome is a rare disease characterized by multiple hamartomas and increased breast, thyroid, kidney and uterine neoplasm risk. The lifetime breast cancer risk for patients with Cowden syndrome is 85 %, with an average age of diagnosis between 38 and 46 years. The diagnostic criteria for Cowden syndrome have been established by the International Cowden Consortium (ICC) and the National Comprehensive Cancer Network (NCCN), and are regularly revised, but the diagnosis of Cowden syndrome remains difficult due to the variety of phenotypic and clinical features of the disease. At the same time, the genetic variants associated with Cowden syndrome analysis is not a standard for patients with breast cancer.Objective: To demonstrate the non‑BRCA hereditary breast cancer detection using whole genome sequencing on the Cowden syndrome clinical case example.Materials and methods: The article describes a clinical case of a 37‑year‑old female patient with breast cancer, normal intelligence and phenotype, structural abnormalities of the thyroid gland (multinodular goiter). Whole genome sequencing was used to identify clinically significant genetic variants associated with hereditary tumor syndromes.Clinical case: The article presents a brief literature review on the clinical presentation of Cowden syndrome and indications for its molecular diagnosis. Also, the presented clinical case describes patient R., 37 years old female with breast cancer, who underwent treatment in the City Clinical Oncological Hospital № 1 of the Moscow City Health Department in 2021. The patient was fully examined and enrolled in the whole genome sequencing project under the Order № 69 of Moscow Healthcare Department dated February 1, 2021 «Oncogenetic research organization in Moscow». The results revealed a pathogenic variant in the PTEN gene, previously associated with Cowden syndrome.Conclusion: The use of whole genome sequencing allows to identify hereditary tumor syndromes, the clinical manifestation of which may be breast cancer.
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Nguyen, Jonathan V., and Martha H. Thomas. "Beyond BRCA: Review of Hereditary Syndromes Predisposing to Breast Cancer." Journal of Breast Imaging 1, no. 2 (June 2019): 84–91. http://dx.doi.org/10.1093/jbi/wbz014.

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Abstract The majority of our hereditary breast cancer genes incur not only an increased risk for breast cancer but for other malignancies as well. Knowing whether an individual carries a pathogenic variant in a hereditary breast cancer gene can affect not only screening for the patient but for his or her family members as well. Identifying and appropriately testing individuals via multigene panels allows for risk reduction and early surveillance in at-risk individuals. Radiologists can serve as first-line identifiers of women who are at risk of having an inherited predisposition to breast cancer because they are interacting with all women receiving routine screening mammograms, and collecting family history suggestive of the presence of a mutation. We outline here the 11 genes associated with high breast cancer risk discussed in the National Comprehensive Cancer Network Genetic/Familial High-Risk: Breast and Ovarian (version 3.2019) as having additional breast cancer screening recommendations outside of annual mammography to serve as a guide for breast cancer screening and risk reduction, as well as recommendations for surveillance of nonbreast cancers.
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Ueda, Mako, Hiroshi Tsubamoto, Mina Kashima-Morii, Yoshitaka Torii, Mariko Kamihigashi, Yu Wakimoto, Nami Nakagomi, Tomoko Hashimoto-Tamaoki, Hideaki Sawai, and Hiroaki Shibahara. "Challenges in Managing Patients with Hereditary Cancer at Gynecological Services." Obstetrics and Gynecology International 2019 (May 27, 2019): 1–9. http://dx.doi.org/10.1155/2019/4365754.

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Aim. To reveal current problems and challenges faced by our gynecologic services department in managing patients with hereditary cancers. Methods. We collected clinical data of patients with hereditary cancers, identified via genetic testing (or clinically diagnosed in cases of Cowden syndrome or Peutz–Jeghers syndrome), and treated in our gynecological department from 2012 to 2018. Results. Fifteen patients had hereditary breast and ovarian cancer (HBOC), 6 had Lynch syndrome, 2 had Cowden syndrome, and 2 had Peutz–Jeghers syndrome. Five patients diagnosed with HBOC were younger than 40 years at diagnosis. Risk-reducing salpingo-oophorectomy (RRSO) was performed on 1 patient with a BRCA1 mutation at age 38 years. Seven patients overall underwent RRSO, and none had malignancies on pathological examinations. Peritoneal washing cytology (PWC) was suspicious for malignancy in one patient; however, subsequent PWC at 6 months after RRSO was negative. A patient with endometrial cancer and Lynch syndrome and a patient with atypical endometrial hyperplasia (AEH) and Cowden syndrome strongly desired fertility preservation. They achieved remission after medroxyprogesterone acetate treatment and multiple dilations and curettages, respectively. One patient with Lynch syndrome developed AEH after 11 years of surveillance. Laparotomy revealed adjacent low-grade and high-grade serous ovarian cancer with positive ascites cytology. She had no recurrence during 7-year follow-up after laparotomy. Conclusion. Managing patients with hereditary cancer, positive or false-positive ascites cytology discovered during RRSO, and desired preservation of fertility is highly challenging.
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Dissertations / Theses on the topic "Hereditary breast cancer patient"

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Jacobs, Christine June. "Communication about genetic testing and hereditary cancer management with breast and ovarian cancer patients." Thesis, University College London (University of London), 2018. http://discovery.ucl.ac.uk/10046946/.

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Background: Women with breast or ovarian cancer (patients) are increasingly offered genetic testing shortly after diagnosis to guide management and identify future cancer risks. As a result, new approaches to communication about hereditary cancer are needed to inform decision-making amongst patients and their relatives. Aims: This thesis aimed to investigate expert opinion and guideline recommendations about the communication needs of patients undergoing genetic testing, the information communicated by genetics health professionals and recalled by patients and their relatives and the experience of patients with newly diagnosed breast cancer who undergo genetic testing. Methods: A scoping review and five studies were conducted using UK data from patients and health professionals: an observational study, a Delphi survey, a content analysis, a document analysis and mixed methods matrix and a qualitative study. Results: Accuracy of information recall was low amongst patients and relatives following genetic counselling, especially about hereditary cancer management. Expert health professionals and service users agreed on the key messages required by patients to inform decision-making for themselves and their relatives. However, during genetic counselling, half of the key messages were communicated to patients and fewer key messages were communicated about hereditary cancer management than genetic testing. Recommended information to communicate to patients was identified from international genetics guidelines. Recommendations about hereditary cancer management were infrequently reflected in expert opinion, communicated by genetics health professionals or recalled by patients. Newly diagnosed patients experienced growing uncertainty and concern about inheritance and surgical decision-making, especially when their genetic test result was unexpected. Conclusions: Patients received insufficient information to understand their future cancer risks and make informed decisions about managing hereditary cancer. Steps are needed to improve information provision, especially when results are unexpected. These findings can help guide refinements to communication as genetic testing is integrated into mainstream oncology.
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Kwong, Ava, and 鄺靄慧. "Phenotypic and genotypic epidemiological studies of Hong Kong Chinese patients with hereditary breast cancer." Thesis, The University of Hong Kong (Pokfulam, Hong Kong), 2013. http://hub.hku.hk/bib/B50534002.

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Breast cancer is the most common cancer in women in most part of the world. Although there are multiple risk factors which have been reported to be related to breast factors, by far one of the highest risk of breast cancer is the inheritance of the BRCA1 and BRCA2 cancer susceptibility genes. The lifetime risk of breast cancer can be as high as 60-80% for BRCA mutation carriers. As the breast cancer epidemiology and genetic predisposition is increasingly understood, it transpires that ethnic differences exist. Although variations of genetic factors may play a role, the reasons for these differences remain unclear. Most published data are Caucasian based and there are limited publications on hereditary breast cancer in Asians available to date. This thesis hypothesizes that due to the known differences in genetic predisposition in different ethnic groups, it is likely that the mutation spectrum of BRCA mutations and breast cancer characteristics of Hong Kong Chinese, a relatively unexplored cohort, will differ to that of Caucasians. Moreover, the ancestors of local Hong Kong population migrated from Mainland China of which majority were from Southern China. They then remained in Hong Kong and populated and hence similar to smaller countries such as Iceland and Poland where founder mutations are identified, it is likely that a founder mutation will be present. Lastly due to different cultural differences and availability of screening facilities, management options of those found to carry the BRCA mutation may differ to that of other countries. The aims of this study are as follows 1) Perform a comprehensive genetic and phenotypic analysis using Full Gene Sequencing and Multiplex ligation-dependent probe amplification (MLPA) testing of Hong Kong Chinese cohort or breast cancer patients/families who are clinically high risk and to develop a registry to collect data related to this study. 2) To identify the spectrum of BRCA mutation in Hong Kong. 3) To report, any novel mutations, founder mutations, large rearrangements and deletions (using MLPA) if any are found. 4) If founder mutations are present, to develop a fasting and cheaper technique so that rapid screening can be offered. 5) To identify the choice of management in this high risk cohort. A total of 451 clinically high-risk breast and /or ovarian cancer patients from 1 March 2007 to 28 February 2011 were recruited. Based on sequencing results, 59 (13.1%) deleterious BRCA gene mutations were identified: 24 (41%) were in BRCA1 and 35 (59%) in BRCA2. Of the 59 deleterious mutations, 22 (37%) were novel mutations, 8 were BRCA1 and 14 were BRCA2 mutations. Eight recurrent mutations were identified of which four were proven to be founder mutations. These results showed that both BRCA1 and BRCA2 mutations account for a substantial proportion of hereditary breast/ovarian cancer in Sothern Chinese population. By using MLPA, four patients with large genomic rearrangement were identified and one of whom has a de novo BRCA1 mutation encompassing exons 1 to 12 deletion. Such mutations are rare and this de novo mutation has not been previously reported. Moreover another novel BRCA2 variant of unknown significance (c.7806-9T>G), a splice-site intronic mutation, was recharacterized to be pathogenic due to clinical suspicion based on its co-segregation. High Resolution Melting Technique in performing rapid screening for the founder mutations was developed and tested on a further cohort confirming the possibility of the use of founder mutations screening technique in future. Finally, concerning the management choice of BRCA mutation carriers undertaken in Chinese, BRCA mutation carriers in our cohort are more likely to choose intensive surveillance as an option of risk management rather than prophylactic interventions. In summary, this study provides valuable information on mutation spectrum of BRCA1 and BRCA2 in Southern Chinese population. Identifications founder mutations and knowledge of its prevalence in this Chinese population provides important information both to genetic counselling and risk assessment as well as to development of a cost-effective screening strategy. Furthermore, our study on the choice of management of mutation carriers allows us to have a baseline for development of future studies of psychological impact of genetic testing and management related to genetic testing, so that these high risk families can be better supported.
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Surgery
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Doctor of Philosophy
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Henderson, Melissa. "Patient-physician Dialogue Matters: Factors that Impact Medical Management Decisions among Women with Pathogenic Variants in Moderate-penetrance Genes Associated with Hereditary Breast Cancer." University of Cincinnati / OhioLINK, 2019. http://rave.ohiolink.edu/etdc/view?acc_num=ucin1554213725302437.

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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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Paladini, L. "BIOLOGICAL SIGNIFICANCE OF ALTERATIONS IN BRCA1 AND BRCA2 GENES AND RESPONSE TO DNA DAMAGE AGENTS IN HEREDITARY BREAST CANCER." Doctoral thesis, Università degli Studi di Milano, 2017. http://hdl.handle.net/2434/488444.

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Background: Although the large number of studies investigating BRCA mutations and their clinical role in different populations and ethnicities, there is a lack of a systematic analysis on these alterations in Italian cohorts, including the analysis of Variants of Unknown biological and clinical Significance (VUS). Moreover, correct management of breast cancer patients tested positive for alterations in BRCA1 or BRCA2 genes is still controversial. We aimed to assess the biological and clinical relevance of BRCA alterations in a consecutive cohort of hereditary breast cancer patients, with particular attention to VUS. Methods: Genetic and clinical data from 366 patients with familial history of breast cancer were reviewed. The association between clinical-pathological, molecular data, and breast cancer patient subgroups was assessed. BRCA1/2 and γ-H2AX expression levels were assessed by qRT-PCR and IHC for all tumors. In silico protein prediction models were computed for VUS with potential clinical significance. Cell proliferation and apoptosis assays for CRISPR/Ca9s-generated mutant MDA-MB-231 cell line were performed to evaluate the sensitivity of specific VUS to DNA damage agents. Results: Overall, 73 breast cancer patients (20%) tested positive for BRCA1/2 alterations. BRCA1 and BRCA2 mutations were reported in 34 (46.5%) and 15 (20.5%) patients, respectively. Two patients (3%) showed two concurrent mutations in both genes. Twenty-two patients (30%) tested positive for VUS. Breast cancer family history and early onset of disease were significantly associated with BRCA1 (p < 0.001) and BRCA2 (p = 0.045 and p = 0.005) mutations. Triple-negative histotype, grading 3, and high Ki-67 levels were significantly associated with BRCA1 mutations (p < 0.001). Molecular, in silico and in vitro experiments confirmed the deleterious effect of BRCA1 c.5509T>C VUS, which was associated with significant high levels of DNA damage and greater sensitivity to Olaparib compared to Cisplatin treatment. Conclusions: Our study supports the deleterious effect of the BRCA1 c.5509T>C VUS in hereditary breast cancer patients, and suggests that breast cancer patient carriers of this variant could benefit from an intense surveillance and from a single agent treatment with Olaparib avoiding various side effects of chemotherapy treatment.
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Vahteristo, Pia. "Susceptibility genes in hereditary breast cancer." Helsinki : University of Helsinki, 2003. http://ethesis.helsinki.fi/julkaisut/laa/kliin/vk/vahteristo/.

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Thorpe, Alison Jane. "Autoantibodies in hereditary and sporadic breast cancer." Thesis, University of Nottingham, 2011. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.546524.

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Huusko, P. (Pia). "Predisposing genes in hereditary breast and ovarian cancer." Doctoral thesis, University of Oulu, 1999. http://urn.fi/urn:isbn:9514254422.

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Abstract In the present study, mutations in BRCA1 and BRCA2, the two major genes predisposing individuals to hereditary breast and ovarian cancer, were screened in Finnish and Turkish cancer families. Germline BRCA1 mutations were found in 7% (6/88) and BRCA2 mutations in 6% (5/88) of the Finnish families studied in Oulu. Two distinct BRCA1 (3745delT, 4216nt-2A→G) and three BRCA2 (999delTCAAA, 6503delTT, 9346nt-2A→G) mutations were identified, all of which are recurrently found in Finland. In the 15 Turkish cancer families studied, 5382insC and 5622C→T were detected in BRCA1, and 3414delTCAG in BRCA2. The novel 3414del4 mutation was found in a family with a case of male breast cancer. In order to determine their ages and origin, 9 recurrent Finnish BRCA1 and BRCA2 mutations were studied further as regards haplotype conservation. Common origins approximately 18–80 generations (400–1600 years) ago were demonstrated for all studied mutations by partial haplotype sharing. The majority of the mutations showed geographical clustering, supporting the theory of regional founder effects. Four of the nine mutations are unique for Finland, whereas five have also been seen elsewhere. Mutations in the 5' end of BRCA1 tend to predispose individuals to ovarian cancer and those found in the 3' end to breast cancer. The age of ovarian cancer onset was significantly lower for BRCA1 (51 years) than for BRCA2 mutation carriers (61 years). Germline TP53 mutations were sought in the Finnish breast cancer families found to be negative after BRCA1 and BRCA2 screening but who exhibited some phenotypic features of the Li-Fraumeni syndrome. The Asn235Ser was found in a family displaying Li-Fraumeni syndrome phenotype and the Tyr220Cys in a family with a milder Li-Fraumeni-like phenotype. The nature of both mutations as cancer-predisposing alterations was supported by means of loss of heterozygosity (LOH) and p53 immunohistochemistry studies. Regional clustering of BRCA1 and BRCA2 founder mutations enables targeted genetic tests including especially those mutations characteristic of the birthplace of each patient. Additional genes are likely to explain a large proportion of the inherited susceptibility to breast cancer in particular. Germline TP53 mutations are expected to be found in the breast cancer families with other clinical features seen in the Li-Fraumeni syndrome.
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Rapakko, K. (Katrin). "Hereditary predisposition to breast cancer—evaluation of candidate genes." Doctoral thesis, University of Oulu, 2007. http://urn.fi/urn:isbn:9789514284502.

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Abstract In Western countries, breast and ovarian cancer are among the most frequent malignancies affecting women. Approximately 5–10% of the cases in the general population have been suggested to be attributed to inherited disease susceptibility. BRCA1 and BRCA2 are the main genes associated with predisposition to breast and ovarian cancer. Mutations in these two genes explain a major part of the families displaying a large number of early-onset breast and/or ovarian cancers, but at least one third of the cases appear to be influenced by other, as yet unidentified genes. Therefore, it is likely that defects in other cancer predisposing genes, perhaps associated with lower disease penetrance and action in a polygenic context, will also be discovered. In the present study, the contribution of germline mutations in putative breast and/or ovarian cancer susceptibility genes, based on their biological function, has been investigated in Finnish breast cancer families. The role of large genomic deletions or other rearrangements in the BRCA1 and BRCA2 genes was evaluated by Southern blot analysis, and mutation analysis of TP53, RAD51, the BRC repeats of BRCA2, and 53BP1 was performed by conformation sensitive gel electrophoresis and DNA sequencing. Germline TP53 mutations were searched for in 108 Finnish breast cancer families without BRCA1 or BRCA2 alterations. In this study, the pathogenic TP53 germline mutation, Arg248Gln, was identified in only one family. This family showed a strong family history of breast cancer and other cancers also fulfilling the criteria for Li-Fraumeni-like syndrome. Germline TP53 mutations are expected to be found in cancer families with clinical features seen in Li-Fraumeni or Li-Fraumeni-like syndromes. In this study, large deletions in BRCA1 and BRCA2 were not observed in 82 breast and/or ovarian cancer families. Likewise, no disease-related aberrations were detected in RAD51, the BRC repeats of BRCA2 or 53BP1 in the 126 breast and/or ovarian cancer families studied. The obtained results were validated by comparing to the occurrence in 288–300 female cancer-free control individuals. These results do not support the hypothesis that alterations in these particular genomic regions play a significant role in breast cancer predisposition in Finland. Thus, there are still genes to be discovered to explain the molecular background of breast cancer.
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McKinley, Andrew George. "A study of hereditary breast cancer in Northern Ireland." Thesis, Queen's University Belfast, 1994. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.295439.

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Books on the topic "Hereditary breast cancer patient"

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Chemo & lunch: One woman's triumph over hereditary breast cancer. Santa Barbara, Calif: Fithian Press, 1990.

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Nakamura, Seigo, Daisuke Aoki, and Yoshio Miki, eds. Hereditary Breast and Ovarian Cancer. Singapore: Springer Singapore, 2021. http://dx.doi.org/10.1007/978-981-16-4521-1.

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Anderson, Patricia J. Breast cancer: A patient guide. Jonesboro, GA, U.S.A. (1887 Coventry Way, Jonesboro 30236): Creative Health Services, 1992.

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National Action Plan on Breast Cancer (Organization : U.S.). The hereditary susceptibility working group. [Washington, DC] (200 Independence Ave., Rm. 718F, SW, Washington 20201): U.S. Public Health Service, Office of Women's Health, 1997.

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Johns Hopkins patient guide to breast cancer. Sudbury, Mass: Jones and Bartlett Publishers, 2010.

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1959-, White Michael, ed. Breakthrough: The quest to isolate the gene for hereditary breast cancer. London: Macmillan, 1995.

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1942-, Harness Jay K., ed. Breast cancer: Collaborative management. Chelsea, Mich: Lewis Publishers, 1988.

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Patient no more: The politics of breast cancer. London: Scarlet, 1994.

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Patient no more: The politics of breast cancer. North Melbourne: Spinifex Press, 1996.

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Running from cancer: A tilted memoir. [Place of publication not identified]: Queen Bee Books, 2013.

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Book chapters on the topic "Hereditary breast cancer patient"

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Resnick, Kimberly, and David Cohn. "Ovarian and Endometrial Cancer in Patients with Hereditary Non-polyposis Colorectal Cancer Syndrome." In The Role of Genetics in Breast and Reproductive Cancers, 163–81. New York, NY: Springer New York, 2009. http://dx.doi.org/10.1007/978-1-4419-0477-5_8.

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Whooley, Brian P., and Patrick I. Borgen. "Hereditary Breast Cancer." In Breast Cancer, 239–52. New York, NY: Springer New York, 1999. http://dx.doi.org/10.1007/978-1-4612-2146-3_18.

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Selvi, Radhakrishna. "Hereditary Breast Cancer." In Breast Diseases, 253–55. New Delhi: Springer India, 2014. http://dx.doi.org/10.1007/978-81-322-2077-0_29.

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Ramón y Cajal, Teresa, Anna Virgili, and Nuria Dueñas. "Hereditary Breast Cancer." In Breast Cancer Management for Surgeons, 499–510. Cham: Springer International Publishing, 2017. http://dx.doi.org/10.1007/978-3-319-56673-3_41.

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Miyashita, Minoru, and Takanori Ishida. "Hereditary Breast Cancer." In Hereditary Breast and Ovarian Cancer, 79–92. Singapore: Springer Singapore, 2021. http://dx.doi.org/10.1007/978-981-16-4521-1_6.

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Bennett, Lynda B., Joel D. Taurog, and Anne M. Bowcock. "Hereditary Breast Cancer Genes." In Breast Cancer, 199–224. Totowa, NJ: Humana Press, 1999. http://dx.doi.org/10.1007/978-1-59259-456-6_9.

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Masuda, Kenta, Megumi Satake, and Daisuke Aoki. "Hereditary Ovarian Cancer." In Hereditary Breast and Ovarian Cancer, 93–106. Singapore: Springer Singapore, 2021. http://dx.doi.org/10.1007/978-981-16-4521-1_7.

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Santillan, Alfredo A., Jeffrey M. Farma, Ramona Hagmaier, Charles E. Cox, and Adam I. Riker. "Hereditary Breast Cancer Syndromes." In Inherited Cancer Syndromes, 51–104. New York, NY: Springer New York, 2010. http://dx.doi.org/10.1007/978-1-4419-6821-0_4.

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Kattepur, Abhay K., and K. S. Gopinath. "Management of Hereditary Breast Cancer: An Overview." In Breast Cancer, 353–97. Singapore: Springer Singapore, 2022. http://dx.doi.org/10.1007/978-981-16-4546-4_18.

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Schneider, Kathy, and Emily Dalton. "Hereditary Breast Cancer Syndromes." In Cancer Consult: Expertise for Clinical Practice, 800–803. Oxford, UK: John Wiley & Sons, Ltd, 2014. http://dx.doi.org/10.1002/9781118589199.ch124.

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Conference papers on the topic "Hereditary breast cancer patient"

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Goveia, Rebeca Mota, Paula Francinete Faustino Silva, Thais Bomfim Teixeira, Isabela Gasparini Arraes, Ruffo Freitas-Júnior, and Elisângela Paula Silveira Lacerda. "ANALYSIS OF PATHOGENIC AND UNCERTAIN SIGNIFICANCE VARIANTS IN NINE GENES OF THE BRCA1-MEDIATED HOMOLOGOUS RECOMBINATION PATHWAY IN PATIENTS WITH SUSPECTED HEREDITARY BREAST AND OVARIAN CANCER SYNDROME IN CENTRAL BRAZIL." In Scientifc papers of XXIII Brazilian Breast Congress - 2021. Mastology, 2021. http://dx.doi.org/10.29289/259453942021v31s1038.

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Introduction: Breast cancer is the most frequent type of cancer in the world and the biggest cause of female deaths. About 10%–15% of cases are due to hereditary factors. The profile of genetic variants is still scarcely known among the Brazilian population and there are no published data for the central region of the country. Objectives: This study aimed to analyze the profile of pathogenic variants (PV) and of the ones of uncertain significance (VUS) for the RAD50, RAD51C, RAD51D, ATM, PALB2, BRIP1, BARD1 and CHEK2 genes in this population. Methods: 113 patients diagnosed with breast or ovarian cancer who met the National Comprehensive Cancer Networking criteria for hereditary breast and ovarian cancer syndrome were selected. The genes had all regions sequenced using NGS (New Generation Sequencing) and the raw data were evaluated using the Sophia DDM and IonReporter softwares. Results: A total of 3.53% of patients had PV in the PALB2 (c.2257C>T), BARD1 (c.176_177delAG), RAD50 (c.2165dupA) or ATM (c.7913G>A) genes. Patients with pathogenic variants in ATM and PALB2 genes were diagnosed before the age of 40. Patients with pathogenic variants in the BARD1 and RAD50 genes had triple negative breast cancer before the age of 60. The patient with a pathogenic variant in the RAD50 gene also developed ovarian cancer. It was observed that 24.77% of the patients had some VUS, 35.29% of which were in the ATM gene, and a new VUS in the CHEK2 gene (c.1151T>C), related to male breast cancer. Conclusions: These findings contribute to a better understanding of the phenotype of patients with pathogenic variants related to breast cancer in non-BRCA genes. In addition, it reveals a new pathogenic variant in the CHEK2 gene, not described in the literature, related to a case of male breast cancer.
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Lacerda, Elisângela de Paula Silveira, Rebeca Mota Goveia, Paula Francinete Faustino Silva, Thais Bonfim Teixeira, and Ruffo de Freitas-Junior. "HEREDITARY BREAST AND OVARIAN CANCER PATIENTS HAVE A FAMILY HISTORY OF CANCER OUTSIDE THE SPECTRUM OF THE SYNDROME, MIMICKING LYNCH AND LI–FRAUMENI SYNDROMES." In Abstracts from the Brazilian Breast Cancer Symposium - BBCS 2021. Mastology, 2021. http://dx.doi.org/10.29289/259453942021v31s2030.

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Patients with pathogenic variants (PV) in the BRCA1 and BRCA2 genes have hereditary breast and ovarian cancer syndrome (HBOC). Some patients with HBOC have a family history (FH) of different types of cancer not related to the syndrome. The objective of this study was to observe the FH profile of cancer in patients with HBOC syndrome. A total of 123 patients treated at the Advanced Breast Diagnostic Center (CORA) with clinical criteria suggestive of HBOC syndrome were selected according to the National Comprehensive Cancer Network (NCCN). The collection of 4 ml of blood was performed, which was subjected to DNA extraction and PV analysis in the BRCA1 and BRCA2 genes by next generation sequencing. The data were analyzed using the Sophia DDM and Ion Reporter software. The variants were considered to be pathogenic according to the ACMG criteria. It was found that among 123 patients analyzed, 19 had HBOC syndrome, of whom 5 were related. Thus, we had 16 families with HBOC syndrome. Among the 16 families, 14 (87.5%) had FH from cancers related to HBOC syndrome, 9 (56.25%) had FH from cancers not related to HBOC syndrome, and 1 (16.25%) did not have FH cancer. A total of 8 (50%) of families with HBOC also met the NCCN criteria for other hereditary cancer syndromes, 3 (18.75%) for Li–Fraumeni syndrome (LFS) and HBOC, 3 (18.75%) for Lynch syndrome (LS) and HBOC, and 2 (12.5%) for HBOC, LFS, and LS. The most common cancers observed outside the common spectrum of HBOC syndrome in families were stomach cancer (25%), intestine (18.75%), liver (18.75%), and skin (18.75%). These data suggest the importance of a complete assessment of FH in patients with HBOC syndrome to better understand its relationship with the predisposition to different types of cancer.
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Corrêa, Tatiana Strava, Renata Lazari Sandoval, Luiza Nardin Weis, Ana Carolina Rathsam Leite, and Romualdo Barroso de Sousa. "LACK OF ACCESS TO GENETIC TESTING AMONG PATIENTS AT RISK OF HEREDITARY BREAST CANCER IN THE BRAZILIAN PUBLIC HEALTH SYSTEM." In Abstracts from the Brazilian Breast Cancer Symposium - BBCS 2021. Mastology, 2021. http://dx.doi.org/10.29289/259453942021v31s2064.

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Objectives: In Brazil, patients treated in the public health (PH) system have no access to genetic testing. This study aims to explore the clinical profile of patients at risk of hereditary breast cancer (BC) in a tertiary hospital at the Federal District. Methodology: Patients with a previous diagnosis of BC, in treatment or follow-up at our PH service, were evaluated for the risk of hereditary BC from January to March 2021. Patients who fulfilled criteria for genetic testing, according to the National Comprehensive Cancer Network (NCCN) criteria (version 1.2020), were defined as at risk of hereditary BC. The clinical data were collected after signed informed consent. Results: A total of 70 patients were evaluated, and 51 patients who fulfilled the NCCN criteria for genetic testing were included in this analysis. The median age at BC diagnosis was 42 years. Invasive ductal carcinoma represented 96% of the cases. The positive hormonal receptor was present in 70.6% of the tumors (36/51) and HER-2 enriched tumors in 19.6%. Ki67 14% was found in 82.3% (42/51) of cases. Tumors were grade 2 (80%) and grade 3 (13.7%). Most patients were diagnosed at locally advanced stages: 62.7% stage IIB– IIIC, 22% stage IV, and 13.7% IA–IIA. The most frequent NCCN criteria for the hereditary BC investigation were BC diagnosis ≤45 years (66%), family history of breast/prostate/pancreatic cancer (60%), and triple-negative BC <60 years (25%). Only four patients performed genetic testing at their own costs. Two of them had positive test results (BRCA2 and TP53 pathogenic variants). Conclusion: This analysis showed that a high rate of patients with BC, who have the indication of genetic testing, have locally advanced or metastatic disease at the time of BC diagnosis. This is likely to lead to worst disease outcomes. Considering that approximately 10% of BC cases are associated with cancer predisposition syndromes, we expect that at least 5 of 51 evaluated patients would have positive genetic tests, which would allow the risk-reduction strategies for secondary cancers and the identification of other family members at risk.
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Reis, Gabriel Baêta Branquinho, Hugo Francisco da Fonseca Neto, Alice Jardim Zaccariotti, Daniel Bispo de Sousa, Silvaleide Ataides Assunção, Thiago Martins de Abreu, Fernando Santos de Azevedo, and Lanúscia Morais de Santana. "INVASIVE DUCTAL CARCINOMA IN A PATIENT WITH LI-FRAUMENI SYNDROME: A CASE REPORT." In Abstracts from the Brazilian Breast Cancer Symposium - BBCS 2021. Mastology, 2021. http://dx.doi.org/10.29289/259453942021v31s2105.

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Introduction/Objectives: Breast cancer is one of the most common malignancies among women, with 10% resulting from genetic predisposition. Li-Fraumeni syndrome is an autosomal dominant disease that predisposes to multiple primary tumors and is responsible for less than 0.1% of breast cancers, being considered in early-onset tumors. The aim of this report was to describe a fast evolution of three primary tumors in a young patient with Li-Fraumeni syndrome, including ductal breast carcinoma. Case Report: In 2017, a 27-year-old female patient was diagnosed with malignant cancer of the right breast, Luminal HER KI67 70%, clinical stage IV (liver and lung), underwent first-line cancer treatment, maintaining endocrinotherapy and Double Block, with a positive genetic panel test for TP53 mutation, inferring SLF. In 2018, screening colonoscopy showed colon adenocarcinoma, pT53pN1, treated with total colectomy with ileal pouch, followed by suspension of endocrinotherapy and maintenance of Double Block and adjuvant FOLFOX. At the end of chemotherapy, endocrinotherapy was adopted again. Reassessment tests showed partial response in the liver, but the primary nodules were unchanged. Biopsy after thoracoscopy described lung adenocarcinoma, pT3pN2, submitted to adjuvant with Gemzar and Navelbine, followed by Double Block and interruption of endocrinotherapy. It evolved with the appearance of nodules in the right breast, suggestive of progression of breast disease, under treatment with Xeloda, Herceptin, and Perjeta, showing good clinical response. Discussion: Breast cancer in young people increases the possibility of heredity, thus raising the need for investigations of genetic syndromes. Although rare, the identification of FHL brings an important implication for the genetic counseling. Early diagnosis is the best form of management, enabling the preventive screening and intervention of multiple malignancies. Conclusion: Cases of breast cancer in young women should raise a suspected diagnosis of Li-Fraumeni syndrome, which can change the therapeutic and investigation of other cancers at an early stage.
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Feijão, Maria Clara Tomaz, Fernanda Pimentel Arraes Maia, Mateus Coelho Gondim de Oliveira Lima, Vitória Moreira Soares, and Luiz Gonzaga Porto Pinheiro. "CONCERNING A FAMILY WITH BRCA2 MUTATION." In XXIV Congresso Brasileiro de Mastologia. Mastology, 2022. http://dx.doi.org/10.29289/259453942022v32s1019.

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Introduction: Breast cancer is the most common malignancy in women and represents a major obstacle to public health worldwide. The molecular diagnosis of this type of cancer is one of the main contemporary challenges in oncology, since it is hampered by a complex inheritance pattern, characterized by both genetic and environmental factors. Only a minority of breast cancers are explained by the presence of high penetrance gene mutations, such as those in the BRCA1 and BRCA2 genes, which together with mutations in intermediate penetrance genes explain only up to 25% of the risk. In fact, much of the genetic influence is elucidated by low penetrance variants. Mutations in the germline BRCA1 and BRCA2 are the most common alterations in cases of early onset or of family history of breast cancer. It is also important to acknowledge that BRCA2 mutations can increase the risk of developing other cancers. Some studies show a relation between BRCA2 mutations and the development of leukemia, especially acute myeloid leukemia (AML). Also, some of these mutations, when inherited from both parents, cause a rare form of Fanconi anemia, a syndrome associated with the development of AML. In addition, there are studies evaluating a higher risk of pancreatic and esophageal cancer in carriers of BRCA2 mutations. The risk of colorectal cancer is also increased in patients with BRCA1 mutations. However, there are also some authors who defend that BRCA2 mutations could also be related. The specific statistics are not well defined because of the lack of data focusing on the relationship with the aforecited types of cancers, demonstrating the need for further analysis. This study aims to report the case of a woman with breast cancer at an early age. Such malignancy is associated and was somehow induced by the rich family history, represented by the high prevalence of cancer in the ancestry. We report a 34-year-old woman with an extensive history of carcinoma in the family, who was diagnosed with breast cancer in July 2016. In order to confirm the diagnosis, it was required an ultrasound, which resulted in a 2.2×1.5 cm node on the right breast’s left superior quadrant, classified as BIRADS 4A. It also performed an ultrasound-guided biopsy that showed a tubular carcinoma on the right breast with the following characteristics: positive for estrogen and progesterone receptor, positive for KI 67 (5%), and negative for HER2, with staging of T1cN0M0. During anamnesis, the patient mentioned menarche at 12 years old, history of birth control pills use for 10 years, no pregnancy, and no breastfeeding. When it comes to family history, a great number of relatives were previously diagnosed with some type of cancer. Her paternal grandfather had rectum cancer at 42 years old and breast cancer at 62 years old. The paternal grandmother passed away because of a fast-progression leukemia at the age of 68. It is important to mention that her progenitors were first cousins. Furthermore, the patient’s dad was diagnosed with breast cancer at 62 years, alongside his three brothers who were also diagnosed with cancer: one with prostatic cancer at the age of 64 years and the other two with intestinal cancer at the ages of 64 and 68 years old. Considering such a family history, a genetic panel was performed, analyzing the genes related to hereditary cancer risk, and it identified mutations in the patient’s BRCA2 gene. Then, firstly, she performed a bilateral mastectomy in January 2017 with sentinel lymph node investigation, which was negative for neoplastic cells in the lymph nodes. Later, considering the BRCA2 mutation, in August 2017, the patient had to undergo prophylactic surgery: oophorectomy with salpingectomy.
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Küller, Marina Bellatti, Gabriela Marçal Rios, Gabriela Bezerra Nobrega, Jonathan Yugo Maesaka, and Jose Roberto Filassi. "LI-FRAUMENI SYNDROME: A CASE REPOR." In XXIV Congresso Brasileiro de Mastologia. Mastology, 2022. http://dx.doi.org/10.29289/259453942022v32s1051.

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Li-Fraumeni syndrome is a disease with an autosomal dominant inheritance of high penetrance and was originally described in 1969. The definitive diagnosis is based on the identification of a pathogenic variant in the TP53 gene. Birch and Chompret and classical models were used as the clinical criteria to identify individuals who are the candidates for molecular screening. It is responsible for about 1% of hereditary breast cancers and is related to other neoplasms, the most common sarcomas, leukemias, and adrenal carcinoma. Among the differential diagnoses, we can consider pathogenic variants of BRCA1/BRCA2 and Lynch syndrome. The behavior of cancer is usually similar to that of patients without Li-Fraumeni syndrome except for the age of early onset. Screening for the breast cancer with an annual magnetic resonance is recommended in women from the age of 20, colon cancer with colonoscopy every 2 or 5 years from the age of 25, and osteosarcoma and soft-tissue tumor with full-body resonance at an early age. Interventions are recommended for patients with a family history or individuals with a reported mutation. Mastectomy is generally recommended for women with breast cancer due to the risks of a second primary breast cancer or a second radiation-induced cancer. The risk of contralateral breast cancer in patients with TP53 diagnosed under 35 years of age is approximately 4%–7% per year. In this scenario, we bring a case report of a young female patient with synchronous tumors of maxillary osteosarcoma and breast cancer to study the approach, prevention, and guidance in these cases. N.O.B., 21 years old, single, born in São Paulo, nonparturient, mother’s death due to breast cancer at age 36, and sister’s death due to neuroblastoma at age 2. At the first medical appointment in June 2021, she complained of the presence of a nodule in her left breast persisting for 2 years and reported a palate lesion present for 1 month and with rapid growth, associated with existing oral cavity deformity. On the breast ultrasound examination performed in June 2021, a solid, hypoechogenic, irregular, microlobulated, nonparallel to skin was revealed, measuring 1.5×1.2×1.3 cm at 10 h of the left breast (BI-RADS classification®: 5). The pathological report from a directed biopsy of the nodule showed an invasive carcinoma of nonspecial histological type, estrogen receptor 80%, progesterone receptor 100%, Her2 negative, and Ki67 60% — clinical staging cT1N0. The examination of her palate lesions reported high histological osteosarcoma — cT1N0M0. Considering the double-tumor diagnosis plus the highly aggressive lesion of the patient’s palate, the team chooses to start the treatment with partial maxillectomy and bilateral infrastructure surgery, tracheostomy, and reconstruction with a microsurgical flap of the right fibula in July 2021. Later in October 2021, the patient’s treatment was followed by a combination of left adenomastectomy, left sentinel lymph node biopsy, and reconstruction with bilateral prosthesis. Due to family and personal history, she went through genetic testing for pathogenic mutation on the TP53 gene. Fertility preservation was performed with oocyte freezing. As an adjuvant treatment, it is scheduled for four cycles of docetaxel and cyclophosphamide. As prophylactic measures, the patient is expected for an adenectomy in the contralateral breast and to follow up with clinical examinations twice a year, as well as both mammography and MRI once a year.
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Goveia, Rebeca M., Paula F. F. Silva, Thais B. Teixeira, Bruno F. Gamba, Hugo D. Silva, Aliny P. Lima, Ruffo Freitas Junior, and Elisângela de P. Silveira Lacerda. "ANALYSIS OF THE PREVALENCE OF THE C.156_157INSALU PATHOGENIC VARIANT IN BRCA2 GENE IN CENTRAL BRAZIL PATIENTS WITH SUSPECTED HEREDITARY BREAST AND OVARY CANCER SYNDROME (HBOC)." In Brazilian Breast Cancer Symposium. v29s1, 2019. http://dx.doi.org/10.29289/259453942019v29s1ep16.

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Alvarez, Carolina, Patricia Gajardo, Alejandro Sánchez, Teresa Tapia, Cristobal Herrera, Felipe Benavides, Mauricio Camus, Manuel Alvarez, and Pilar Carvallo. "Abstract 2127: Screening of thePALB2gene in 57 Chilean patients with hereditary breast cancer." In Proceedings: AACR 101st Annual Meeting 2010‐‐ Apr 17‐21, 2010; Washington, DC. American Association for Cancer Research, 2010. http://dx.doi.org/10.1158/1538-7445.am10-2127.

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Vogel Postula, KJ, LM Andolina, K. Theobald, AK McGill, E. Sutcliffe, KJ Arvai, PD Murphy, RT Klein, and KS Hruska. "Abstract PD7-11: The role of multi-gene hereditary cancer panels in male patients with breast cancer." In Abstracts: 2017 San Antonio Breast Cancer Symposium; December 5-9, 2017; San Antonio, Texas. American Association for Cancer Research, 2018. http://dx.doi.org/10.1158/1538-7445.sabcs17-pd7-11.

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LaDuca, Holly, Lily Hoang, Carolyn Horton, Jessica Profato, Tameron Harvell, Jill S. Dolinsky, Tina Pesaran, and Rachid Karam. "Abstract PD10-07: Rna genetic testing improves detection of patients with hereditary breast cancer." In Abstracts: 2020 San Antonio Breast Cancer Virtual Symposium; December 8-11, 2020; San Antonio, Texas. American Association for Cancer Research, 2021. http://dx.doi.org/10.1158/1538-7445.sabcs20-pd10-07.

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Reports on the topic "Hereditary breast cancer patient"

1

Olopade, Olufunmilayo I. Molecular Markers in Hereditary Breast Cancer. Fort Belvoir, VA: Defense Technical Information Center, October 2001. http://dx.doi.org/10.21236/ada403325.

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Olopade, Olufunmilayo I. Molecular Markers in Hereditary Breast Cancer. Fort Belvoir, VA: Defense Technical Information Center, October 2002. http://dx.doi.org/10.21236/ada412814.

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Olopade, Olufunmilayo I. Molecular Markers in Hereditary Breast Cancer. Fort Belvoir, VA: Defense Technical Information Center, October 2003. http://dx.doi.org/10.21236/ada420426.

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Narod, Steven A. Mastectomy vs. Lumpectomy in Hereditary Breast Cancer. Fort Belvoir, VA: Defense Technical Information Center, October 2000. http://dx.doi.org/10.21236/ada392934.

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Narod, Steven A. Mastectomy vs. Lumpectomy in Hereditary Breast Cancer. Fort Belvoir, VA: Defense Technical Information Center, October 1999. http://dx.doi.org/10.21236/ada382919.

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Tomlinson, Gail E. Acquired Secondary Events in the Pathogenesis of Hereditary Breast Cancer. Fort Belvoir, VA: Defense Technical Information Center, September 1999. http://dx.doi.org/10.21236/ada384214.

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Lynch, Henry T. Hereditary Breast Cancer: Mutations within BRCA1 and BRCA2 with Phenotypic Responses. Fort Belvoir, VA: Defense Technical Information Center, July 2001. http://dx.doi.org/10.21236/ada395893.

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Lynch, Henry T. Hereditary Breast Cancer: Mutations within BRCA1 and BRCA2 with Phenotypic Responses. Fort Belvoir, VA: Defense Technical Information Center, July 1999. http://dx.doi.org/10.21236/ada374220.

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Lynch, Henry T. Hereditary Breast Cancer: Mutations Within BRCA1 and BRCA2 with Phenotypic Responses. Fort Belvoir, VA: Defense Technical Information Center, July 2002. http://dx.doi.org/10.21236/ada415553.

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Lynch, Henry T. Hereditary Breast Cancer: Mutations Within BRCA1 and BRCA2 With Phenotypic Responses. Fort Belvoir, VA: Defense Technical Information Center, July 1998. http://dx.doi.org/10.21236/ada357710.

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