Relevant bibliographies by topics / BRCA genes

Academic literature on the topic 'BRCA genes'

Author: Grafiati
Published: 4 June 2021
Last updated: 30 July 2024

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Journal articles on the topic "BRCA genes"

1

Zhang, Yinuo. "BRCA1, BRCA2 and primary ovarian insufficiency." E3S Web of Conferences 165 (2020): 05009. http://dx.doi.org/10.1051/e3sconf/202016505009.

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BRCA1 and BRCA2 genes belong to the family of ataxia-telangiectasia-mutated (ATM)-mediated DNA DSB repair genes that play a critical role in the DNA double-strand break (DSB) repair. Mutations in BRCA genes significantly increase the lifetime risk of breast, ovarian, fallopian tube and primary peritoneal cancers. In addition to the increased risk for multiple malignancies, recent literature suggest that mutations in BRCA genes could lead to decreased ovarian reserve and subsequent ovarian aging. In this review, we will focus on role of BRCA1 and BRCA2 in ovarian function, particularly ovarian aging and primary ovarian insufficiency. Serum AMH values are generally lower in BRCA1 mutation carriers but not in BRCA2 mutation carriers. BRCA2 carriers were more likely to have chemotherapy-induced amenorrhea DNA not stable, linking with ovarian aging. The mechanism by which BRCAs mutation in the pathogenesis of POI is the inpaired function of repairing DNA breaks. Future studies investigating the knockout models to elucidate the role of the BRCAs genes in ovarian development and oocyte maturation will be interesting.
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2

McNevin, Ciara S., Karen Cadoo, Anne-Marie Baird, Pierre Murchan, Orla Sheils, Ray McDermott, and Stephen Finn. "Pathogenic BRCA Variants as Biomarkers for Risk in Prostate Cancer." Cancers 13, no. 22 (November 14, 2021): 5697. http://dx.doi.org/10.3390/cancers13225697.

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Studies have demonstrated that men with Prostate Cancer (PCa) harboring BRCA2/BRCA1 genetic aberrations, are more likely to have worse disease and a poorer prognosis. A mutation in BRCA2 is known to confer the highest risk of PCa for men (8.6 fold in men ≤65 years) making BRCA genes a conceivable genomic biomarker for risk in PCa. These genes have attracted a lot of research attention however their role in the clinical assessment and treatment of PCa remains complex. Multiple studies have been published examining the relationship between prostate cancer and BRCA mutations. Here BRCA mutations are explored specifically as a biomarker for risk in PCa. It is in this context, we examined the prognostic, clinical and therapeutic role of BRCA2/BRCA1 mutations across the evolution of PCa. The impact of the inclusion of BRCA genes on genetic screening will also be outlined.
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3

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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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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5

Incorvaia, Lorena, Chiara Brando, Alessandro Perez, Marco Bono, Daniela Cancelliere, Alessia Pivetti, Nadia Barraco, et al. "Real life use of biomarkers of homologous recombination deficiency (HRD) status beyond BRCA to predict the effectiveness of PARP inhibitors in ovarian cancer patients." Journal of Clinical Oncology 41, no. 16_suppl (June 1, 2023): 10592. http://dx.doi.org/10.1200/jco.2023.41.16_suppl.10592.

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10592 Background: Testing for BRCA mutations (BRCAm) and genomic instability can identify epithelial ovarian cancer (OC) patients most likely to benefit from PARP-inhibitors (PARPi). However, current biomarkers of non- BRCA Homologous Recombination Repair (HRR) mutations are insufficient for guiding use of PARPi in the clinic. Despite non- BRCA HRR pathway gene mutations are rare, these patients may benefit from PARPi. Furthermore, recent preclinical findings showed that sensitivity to PARPi could be associated also with mutations in mismatch repair (MMR) genes, although sensitivity in the clinic is not proven. Methods: We report our real-life experience to assess the HRD status beyond BRCAm in newly-diagnosed OC patients, with the use of HRR gene panel and HRD genomic instability tests. After primary diagnosis, tumor and germline BRCA (g BRCA) status were assessed and, if BRCA WT, tumor HRR deficiency status were centrally determined by myChoiceCDx (Myriad) assay. NGS panel evaluating 20 MMR and HRR-genes beyond BRCA1/2 was proposed to patients with significant personal and/or family history of cancer, resulted negative to g BRCA testing. Results: From January 2017 to January 2023, 540 unselected epithelial OC patients, aging 27 to 81, were tested for tumor and g BRCA status; 109 were carriers of germline pathogenic or likely pathogenic variants (PVs) in BRCA1/2 genes (20.2%): 72 in BRCA1 (66.1%) and 37 in BRCA2 gene (33.9%). Additional 19 patients showed somatic PVs confined to tumor samples (3.5%).In the population of 70 BRCA WT patients tested by multigene panel testing, 14 germline PVs in HRR-associated (7.1%) or MMR-associated genes (12.8%) were found, including 5 in MUTYH (35.7%), 2 in ATM (14.3%), 2 in MLH1 (14.3%), 2 in PMS2 (14.3%), 1 in RAD51C (7.14%), 1 in RAD51D (7.14%), and 1 in CHEK2 gene (7.14%).Out of 72 samples analyzed by HRD genomic instability test, 23 cases were identified as HRD positive (31.9%), with a median GIS score of 65.5 (44-83). Median GIS were 35 (1-72) in the 6 cases of non- BRCA mutated tumors (8.3%), 40 (4-82) in the 17 tumor with non- BRCA variant of uncertain significance (VUS) (23.6%), and 27 (2-83) in the WT samples. Median GIS were significantly higher in tumors with PVs/VUS of RAD51 than BRIP1 (55.5 vs 35). Conclusions: HRRm gene panel and HRD genomic instability tests are not interchangeable to study HRR deficiency beyond BRCAm. HRD genomic instability test is effective to identify patients most likely to gain benefit from PARPi, but not for predicting familial risk of cancer. In our population, NGS panel evaluating HRR genes, beyond BRCA1/2, improved the detection rate of HRRm by 7%, with additional finding of MMR germline mutations, and important clinical implications for family members. Prospective data are expected to evaluate the effectiveness of PARPi in these population.
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Журман, В. Н., Н. Г. Плехова, and М. Л. Филипенко. "Mutational Status of BRCA Genes in Ovarian Cancer." Евразийский онкологический журнал, no. 2 (August 16, 2022): 118–25. http://dx.doi.org/10.34883/pi.2022.10.2.016.

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Носители герминальных мутаций генов – супрессоров опухолей BRCA1/2 (Brest cancer gene 1/2) имеют повышенный риск развития рака молочной железы, яичников. Также в результате соматических мутаций функциональность BRCA теряется только в одной клетке, которая может стать мутагенной и дать начало злокачественной опухоли.Материалы и методы. Проводили анализ генов BRCA1/2 образцов ДНК из лейкоцитов (n=143) и фиксированных в формалине и залитых в парафин (FFPE) тканей опухоли (n=208) пациентов (n=306) с раком яичника. Мультиплексная амплификация целевых последовательностей ДНК осуществлялась с помощью ПЦР, данные секвенирования обрабатывались с использованием программного обеспечения BRCA-analyzer. Установлено, что в группе BRCA1/2-положительных пациенток, как и в группе отрицательных, преимущественно выявлен рак яичника высокой степени злокачественности (high-grade). Согласно спектру патогенных мутаций генов BRCA определено, что 101 пациент с раком яичника был носителем мутаций гена BRCA1 (88,1%) и 6 мутаций гена BRCA2 (11,9%). Не обнаружено ни одного обследуемого с одновременным носительством мутаций в обоих генах. Было определено 86 пациентов – носителей герминальных мутаций гена BRCA1, гена BRCA2 – 11 человек. Достоверное различие показателей общей продолжительности жизни было обнаружено между группами обследованных, где у пациентов с наличием мутаций она составила 62 месяца (р=0,003). Таким образом, показано, что мутации BRCA1/2 связаны с повышением продолжительности общей выживаемости, но улучшение наблюдалось только у пациентов с первичным и рецидивирующим заболеванием, а не у пациентов с запущенным заболеванием. Тем не менее, мутации BRCA1 и BRCA2 по отдельности не были связаны с указанным показателем, хотя эти результаты были ограничены небольшим количеством исследований. Дальнейшее выяснение характеристик мутаций и их влияния на выживаемость пациентов и ответ на терапию может привести к более индивидуализированному подходу к лечению рака яичников и улучшению результатов. Carriers of germinal mutations of BRCA1/2 tumor suppressor genes (Brest cancer gene 1/2) have an increased risk of developing breast and ovarian cancer. Also, as a result of somatic mutations, BRCA functionality is lost only in one cell, which can become mutagenic and give rise to a malignant tumor.Materials and methods. BRCA1/2 genes of DNA samples from leukocytes (n=143) and formalin-fixed and paraffin-coated (FFPE) tumor tissues (n=208) of patients (n=306) with ovarian cancer were analyzed. Multiplex amplification of target DNA sequences was carried out using PCR, sequencing data was processed using BRCA-analyzer software. It was found that in the BRCA group of 1–2 positive patients, as well as in the negative group, ovarian cancer of a high degree of malignancy (high-grade) was mainly detected. According to the spectrum of pathogenic mutations of BRCA genes, it was determined that 101 ovarian cancer patients were carriers of BRCA1 gene mutations (88.1%) and 6 BRCA2 gene mutations (11.9%). Not a single subject with simultaneous carrier of mutations in both genes was found. 86 patients were identified as carriers of germinal mutations of the BRCA1 gene and the BRCA2 – 11 gene in humans. A significant difference in the overall life expectancy was found between the groups examined, where in patients with mutations it was 62 months (p=0.003). Thus, it was shown that BRCA1/2 mutations are associated with an increase in the duration of overall survival, but the improvement was observed only in patients with primary and recurrent disease, and not in patients with advanced disease. However, BRCA1 and BRCA2 mutations were not individually associated with this indicator, although these results were limited by a small number of studies. Further elucidation of mutation characteristics and their impact on patient survival and response to therapy may lead to a more individualized approach to ovarian cancer treatment and improved outcomes.
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McNevin, Ciara S., Karen Cadoo, Anne-Marie Baird, Stephen P. Finn, and Ray McDermott. "PARP Inhibitors in Advanced Prostate Cancer in Tumors with DNA Damage Signatures." Cancers 14, no. 19 (September 29, 2022): 4751. http://dx.doi.org/10.3390/cancers14194751.

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Since 2010, significant progress has been made in the treatment of metastatic castrate resistant prostate cancer (mCRPC). While these advancements have improved survival, mCRPC remains a lethal disease, with a precision medicine framework that is lagging behind compared to other cancers. Poly (ADP-ribose) polymerase (PARP) inhibitor (PARPi) studies in prostate cancer (PCa) have focused primarily on the homologous recombination repair (HRR) genes, specifically BRCA1 and BRCA2. While homologous recombination deficiency (HRD) can be prompted by germline or somatic BRCA1/2 genetic mutations, it can also exist in tumors with intact BRCA1/BRCA2 genes. While the sensitivity of PARPi in tumors with non-BRCA DNA damage signatures is not as well established, it has been suggested that genomic alterations in DNA damage repair (DDR) genes other than BRCA may confer synthetic lethality with PARPI in mCRPC. The aim of this review is to summarize the literature on PARPi and their activity treating BRCA and non BRCA tumors with DNA damage signatures.
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Meireles, Pedro Antunes, Catarina Bexiga, Sofia Fragoso, Sidónia Santos, Teresa Duarte, and Fátima Vaz. "Abstract PO3-08-03: Comparing prognosis for BRCA1, BRCA2 and non-BRCA breast cancer." Cancer Research 84, no. 9_Supplement (May 2, 2024): PO3–08–03—PO3–08–03. http://dx.doi.org/10.1158/1538-7445.sabcs23-po3-08-03.

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Abstract BACKGROUND Breast Cancer (BC) is the most diagnosed malignancy and the leading cause of cancer death in women worldwide. Approximately 10% of BC cases are hereditary, and up to 25% have been linked to germline variants of specific genes. Germline pathogenic variants (PV) in BRCA1 and BRCA2 genes, which account for 20% of familial BC cases, are highly penetrant and are associated with Hereditary Breast/Ovarian Cancer Syndrome. BRCA1 e BRCA2 are tumor suppressor genes, which interact with recombination/DNA repair proteins in pathways that participate in preserving intact chromosome structure, particularly on the DNA double chain. So far, more than 7000 PV were identified on these genes, including the Portuguese founder mutation (BRCA2 c.156_157insAlu), which accounts for a great proportion of BC cases in our country. BRCA1 and BRCA2 associated BC have distinct clinicopathological characteristics. Long-term follow-up data related to prognosis and survival of either BRCA1 or BRCA2 BC patients is conflicting. Two large meta-analysis report worse overall survival for both, when compared to sporadic BC, whereas two other large meta-analysis concluded on worse overall survival only for BRCA1 patients, with similar overall survival for BRCA2 patients. One meta-analysis reports similar survival for both groups. We report the analysis of our cohort of BRCA1/2 BC patients included in our multidisciplinary program. Our goal is to compare clinicopathological characteristics and prognosis between BRCA1 and BRCA2 BC and with a control group without germline PV (non-BRCA). METHODS Prospective follow-up was proposed to patients with a diagnosed BRCA1/2 PV. This study included BRCA1/2 patients with BC as first cancer diagnosis, observed between January 2000-May 2023. A control group, with similar phenotype and histological characteristics, without germline PV was used. Statistical analysis was performed to compare characteristics and prognosis between BRCA1 and BRCA2 and non-BRCA BC. ANOVA test was used to compare the age at diagnosis; chi-square was used to compare categorical variables, such as histological subtype and clinical staging at diagnosis; log rank was used to compare the primary and secondary endpoints – overall survival (OS) and invasive disease-free survival (iDFS), respectively. RESULTS From 1077 individuals who tested positive for BRCA1/2 PV, 345 patients had BC, mostly with a BRCA2 PV (66.4%). A control group of 339 individuals was assembled. BRCA2 BC was mostly luminal, as non-BRCA patients, compared with BRCA1 (73.8% vs. 65.8% vs. 25.9%, p&lt; 0.001) and BRCA1 was mostly triple negative, compared with non-BRCA and BRCA2 (65.5% vs. 16.5% vs. 13.3%, p&lt; 0.001). For a mean follow-up time of 10.6 years (±5.6), recurrence was similar, with central nervous system (CNS) metastases being more frequent for BRCA1 (66.7% vs. 23.7% in non-BRCA, and vs. 9.1% in BRCA2, p&lt; 0.001), and bone metastases were predominant for BRCA2 BC (57.5% vs 33.3% in non-BRCA, and vs. 9.1% in BRCA1, p=0.003). Non-BRCA BC showed longer time to recurrence (99.3 months vs. 76.5 months in BRCA2 BC, and vs. 61.2 months in BRCA1 BC, p=0.010), although longer OS was observed in BRCA2 BC (136.2 months vs. 121.7 months in BRCA1 BC, and vs. 113.2 months in non-BRCA, p&lt; 0.001). Development of second primary tumors was more frequent in BRCA2 patients, compared with BRCA1 (20.9% vs 9.2%, p=0.002). DISCUSSION In the Portuguese population, BRCA2 BC is more frequent than BRCA1 BC. Relapses occurred later for BRCA2 BC, affecting mostly the bone, whereas BRCA1 BC relapsed in CNS. As it is stated in the literature, BRCA1 BC is consistent with triple negative, as BRCA2 BC is more associated with luminal subtype. Differences in iDFS favored non-BRCA patients, whereas OS was significantly improved in BRCA2 BC patients. This is the biggest cohort presented in the Portuguese population and one of the biggest presenting BRCA2 BC patients. Table 1 Characteristics of patients according to BRCA1/2 mutation status (n = 684) Citation Format: Pedro Antunes Meireles, Catarina Bexiga, Sofia Fragoso, Sidónia Santos, Teresa Duarte, Fátima Vaz. Comparing prognosis for BRCA1, BRCA2 and non-BRCA breast cancer [abstract]. In: Proceedings of the 2023 San Antonio Breast Cancer Symposium; 2023 Dec 5-9; San Antonio, TX. Philadelphia (PA): AACR; Cancer Res 2024;84(9 Suppl):Abstract nr PO3-08-03.
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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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Foglietta, Jennifer, Vienna Ludovini, Fortunato Bianconi, Lorenza Pistola, Maria Sole Reda, Antonella Al-Refaie, Francesca Romana Tofanetti, et al. "Prevalence and Spectrum of BRCA Germline Variants in Central Italian High Risk or Familial Breast/Ovarian Cancer Patients: A Monocentric Study." Genes 11, no. 8 (August 12, 2020): 925. http://dx.doi.org/10.3390/genes11080925.

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Hereditary breast and ovarian cancers are mainly linked to variants in BRCA1/2 genes. Recently, data has shown that identification of BRCA variants has an immediate impact not only in cancer prevention but also in targeted therapeutic approaches. This prospective observational study characterized the overall germline BRCA variant and variant of uncertain significance (VUS) frequency and spectrum in individuals affected by breast (BC) or ovarian cancer (OC) and in healthy individuals at risk by sequencing the entire BRCA genes. Of the 363 probands analyzed, 50 (13.8%) were BRCA1/2 mutated, 28 (7.7%) at BRCA1 and 23 (6.3%) at BRCA2 gene. The variant c.5266dupC p.(Gln1756Profs) was the most frequent alteration, representing 21.4% of the BRCA1 variants and 12.0% of all variants identified. The variant c.6313delA p.(Ile2105Tyrfs) of BRCA2 was the most frequent alteration observed in 6 patients. Interestingly, two new variants were identified in BRCA2. In addition, 25 different VUS were identified; two were reported for the first time in BRCA1 and two in BRCA2. The number of triple-negative BCs was significantly higher in patients with the pathogenic BRCA1/2-variant (36.4%) than in BRCA1/2 VUS (16.0%) and BRCA1/2 wild-type patients (10.7%) (p < 0.001). Our study reveals that the overall frequency of BRCA germline variants in the selected high-risk Italian population is about 13.8%. We believe that our results could have significant implications for preventive strategies for unaffected BRCA-carriers and effective targeted treatments such as PARP inhibitors for patients with BC or OC.
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Dissertations / Theses on the topic "BRCA genes"

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Mavaddat, Nasim. "Risk modelling in BRCA1 and BRCA2 mutation carriers." Thesis, University of Cambridge, 2012. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.610839.

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Ewald, Ingrid Petroni. "Caracterização de um grupo de pacientes em risco para câncer de mama e ovário hereditários quanto a presença e frequência de rearranjos gênicos em BRCA." reponame:Biblioteca Digital de Teses e Dissertações da UFRGS, 2012. http://hdl.handle.net/10183/53154.

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O câncer de mama é uma das neoplasias malignas mais comuns que afetam mulheres de todo o mundo. No Brasil, o Estado do Rio Grande do Sul tem índices de incidência e mortalidade por câncer de mama que situam-se entre os maiores do país. Aproximadamente 5-10% dos diagnósticos são causados por mutações germinativas em genes de predisposição entre os quais estão BRCA1 e BRCA2, associados à Síndrome de Câncer de mama e Ovário Hereditários (Hereditary Breast and Ovarian Cancer Syndrome ou HBOC, OMIM #114480).A identificação dos casos hereditários de câncer de mama é importante porque indivíduos afetados apresentam risco cumulativo vital muito superior ao da população para o desenvolvimento de câncer, porque familiares de um afetado podem estar igualmente em risco porque há medidas de rastreamento intensivo e intervenções preventivas que podem diminuir significativamente o risco de câncer em portadores de mutação. O diagnóstico molecular da síndrome HBOC é laborioso e caro devido à heterogeneidade molecular da doença. Famílias que apresentam características indicativas de uma síndrome de predisposição ao câncer de mama e ovário hereditários, mas que são negativas para mutações pontuais em BRCA1/2 vêm sendo testadas para grandes rearranjos visto que essas anormalidades têm sido consideradas como respondendo por, no mínimo, 10% do todos os casos HBOC com mutação identificável, incluindo grandes deleções ou duplicações. Um estudo recente de Portugal, demonstrou que um rearranjo fundador no exon 3 de BRCA2 ocorre em por 8% das famílias HBOC do Norte do país. Os objetivos deste trabalho incluíram a verificação da freqüência e caracterização de rearranjos gênicos nos genes BRCA1 e BRCA2, incluindo a mutação fundadora c.156_157insAlu no exon 3 de BRCA2 em famílias brasileiras dealto risco para a síndrome HBOC. Em um grupo de 145 indivíduos em risco nãorelacionados rastreados para a mutação fundadorac.156_157insAlu no exon 3 de BRCA2 foram encontrados 3 portadores da mutação (prevalência de 2%). Em um grupo de 145 indivíduos de risco não-relacionados rastreados para rearranjos gênicos em BRCA1 e BRCA2 pela técnica de MLPA (multiplex ligation-dependent probe amplification) foram identificados 4 portadores de mutação germinativa, sendo a mutação em dois deles um rearranjo gênico no gene BRCA1 (1,4%) envolvendo sequencias Alu. Rearranjos gênicos em BRCA1 e BRCA2 são responsáveis por uma parcela das mutações em famílias HBOC Brasileiras. O presente estudo, envolvendo uma série grande de famílias com o fenótipo da síndrome HBOC, não identificou novos rearranjos fundadores, no entanto, demonstrou a presença de rearranjos tanto em BRCA1 quanto em BRCA2, reiterando a importância da busca ativa por estas alterações, que dificilmente são identificadas por técnicas convencionais de sequenciamento gênico. A técnica de MLPA associada a um protocolo específico para detecção da mutação fundadora Portuguesa c.156_157insAlu podem ser utilizadas como estratégia inicial de rastreamento de mutações em famílias Brasileiras com a síndrome. Os resultados apresentados aqui, no entanto, indicam que mutações serão identificadas em menos de 10% dos casos utilizando esta estratégia.
Breast cancer is one of the most common malignancies affecting women worldwide. In Brazil, the State of Rio Grande do Sul has incidence rates and mortality from breast cancer are among the largest in the country. Approximately 5-10% of the cases are caused by germline mutations in predisposing genes including BRCA1 and BRCA2 are associated with the syndrome of breast and ovarian cancer Hereditary (Hereditary Breast and Ovarian Cancer Syndrome or HBOC, OMIM # 114480). The identification of inherited cases of breast cancer is important because affected individuals have cumulative risk life much higher than the population for developing cancer because of an affected family may also be at risk because there are measures of intensive screening and preventive interventions that can significantly decrease the risk of cancer in mutation carriers. The molecular diagnosis of HBOC syndrome is laborious and expensive due to the molecular heterogeneity of the disease. Families that have characteristics indicative of a cancer predisposition syndrome of hereditary breast and ovarian cancers, but are negative for mutations in BRCA1/2 have been tested for large rearrangements because these abnormalities have been identified as accounting for at least 10 % of all cases HBOC identifiable mutation, including large deletions or duplications. A recent study from Portugal, the founder showed that a rearrangement in exon 3 of BRCA2 occurs in 8% of HBOC families of the north. The objectives of this work included the verification of the frequency and characterization of gene rearrangements in BRCA1 and BRCA2 genes, including c.156_157insAlu founder mutation in exon 3 of BRCA2 mutations in Brazilian families at high risk for HBOC syndrome. In a group of 145 individuals at risk unrelated traced to c.156_157insAlu founder mutation in exon 3 of 3 found BRCA2 mutation carriers (prevalence 2%). In a group of 145 individuals at risk unrelated screened for gene rearrangements in BRCA1 and BRCA2 by the technique of MLPA (multiplex ligationdependent probe amplification) identified four carriers of germline mutation, and two of the mutation in a gene rearrangement in the gene BRCA1 (1.4%) involving Alu sequences. Gene rearrangements in BRCA1 and BRCA2 account for a portion of HBOC mutations in Brazilian families. This study, involving a large series of families with HBOC syndrome phenotype, no new rearrangements identified founders, however, showed the presence of rearrangements in both BRCA1 and BRCA2, reiterating the importance of active search for these changes, which hardly are identified by conventional techniques of gene sequencing. The technique of MLPA protocol associated with a specific mutation detection founder Portuguese c.156_157insAlu strategy can be used as initial screening for mutations in families with Brazilian syndrome. The results presented here, however, indicate mutations that will be identified in less than 10% of the cases using this strategy.
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Ramirez, Christina J. "BRCA genes : conserved regions and the potential effect of missense changes /." Thesis, Connect to this title online; UW restricted, 2005. http://hdl.handle.net/1773/5052.

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Turk, Casey M. "Paralemmin splice variants and mRNA and protein expression in breast cancers." Connect to this title, 2008. http://scholarworks.umass.edu/theses/194/.

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Warren, Curtis R. "Linker region of the BRCA2 protein increases chemoresistance to cisplatin: Screen for the characterization of cancer-associated variants." Access to citation, abstract and download form provided by ProQuest Information and Learning Company; downloadable PDF file, 84 p, 2009. http://proquest.umi.com/pqdweb?did=1885607671&sid=3&Fmt=2&clientId=8331&RQT=309&VName=PQD.

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Solyom, S. (Szilvia). "BRCA/Fanconi anemia pathway genes in hereditary predisposition to breast cancer." Doctoral thesis, Oulun yliopisto, 2011. http://urn.fi/urn:isbn:9789514294099.

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Abstract Two major genes are involved in hereditary predisposition to breast and ovarian cancer – BRCA1 and BRCA2. However, germline mutations in these tumor suppressors account for a maximum 20% of the familial breast cancer cases. A significant portion of the genes predisposing to this disease is unknown and therefore needs to be discovered. The aim of this study was to identify novel breast cancer susceptibility genes from the interweaving BRCA/Fanconi anemia (FA) pathway. Five candidate genes – MERIT40, ABRAXAS, BRIP1, CHK1, and FANCA – were screened for mutations by utilizing conformation-sensitive gel electrophoresis and sequencing, or with multiplex ligation-dependent probe amplification in blood DNA samples of Finnish familial breast cancer patients. Investigation of the MERIT40 gene revealed novel nucleotide changes, being the first report on mutation screening of this gene. None of the observed alterations, however, appeared to be disease related, suggesting that germline mutations in MERIT40 are rare or absent in breast cancer patients. A missense alteration (c.1082G>A, leading to Arg361Gln) was identified in ABRAXAS in 3 out of 125 Northern Finnish breast cancer families (2.4%), but not in any of the 867 healthy controls. The prevalence of the mutation between familial and control cases was statistically significantly different (p=0.002). ABRAXAS c.1082G>A appears to have pathological significance based on its exclusive occurrence in cancer cases, evolutionary conservation, disruption of a putative nuclear localization signal, reduced nuclear localization of the protein, and defective accumulation at DNA damage sites. The BRIP1 (FANCJ) and CHK1 genes were screened for large genomic rearrangements, but no abnormalities were detected, ruling out a significant contribution to breast cancer susceptibility in the Northern Finnish population. A novel large heterozygous deletion was identified in the FANCA gene in one out of 100 breast cancer families, removing the promoter and the first 12 exons. The deletion allele was not present in the tested controls, suggesting that it might contribute to breast cancer susceptibility. This is the first report on the association of a large-size germline deletion in a gene acting in the upstream part of the FA signaling pathway with familial breast cancer
Tiivistelmä BRCA1 ja BRCA2 ovat kaksi tärkeintä perinnöllisen rinta- ja munasarjasyövän alttiusgeeniä. Niissä esiintyvät ituradan muutokset selittävät kuitenkin vain noin 20 % familiaalisista rintasyöpätapauksista. Suurin osa alttiusgeeneistä on edelleen tunnistamatta ja näitä tekijöitä etsitään aktiivisesti. Tämän tutkimuksen tarkoituksena on ollut tunnistaa uusia alttiustekijöitä toisiinsa läheisesti liittyviltä BRCA/Fanconin anemia (FA) signaalinsiirtoreiteiltä. Viisi kandidaattigeeniä - MERIT40, ABRAXAS, BRIP1, CHK1 ja FANCA – kartoitettiin mutaatioiden suhteen suomalaisissa rintasyöpäperheissä käyttämällä konformaatiosensitiivistä geelielektroforeesia ja sekvensointia, tai multiplex ligation-dependent probe amplification- menetelmää. MERIT40-geenissä havaittiin useita aikaisemmin raportoimattomia nukleotidimuutoksia, mutta yhdenkään niistä ei havaittu liittyvän rintasyöpäalttiuteen. MERIT40-geenimuutosten mahdollista yhteyttä rintasyöpäalttiuteen ei ole tutkittu aikaisemmin. ABRAXAS-geenissä havaittiin missense-mutaatio (c.1082G>A, joka johtaa Arg361Gln aminohappokorvautumiseen) kolmessa pohjoissuomalaisessa rintasyöpäperheessä (3/125, 2.4 %). Muutosta ei havaittu terveissä kontrolleissa (N=867), ja ero mutaation esiintyvyydessä familiaalisten rintasyöpätapausten ja terveiden kontrollien välillä oli tilastollisesti merkitsevä (p=0.002). ABRAXAS c.1082G>A-muutos on todennäköisesti patogeeninen, sillä kyseinen aminohappopaikka on evolutiivisesti konservoitunut ja sijaitsee todennäköisellä tumaanohjaussignaalialueella. Funktionaaliset kokeet osoittivat, että mutatoitunut proteiinituote lokalisoitui villityypin proteiinia heikommin tumaan ja sen ohjautuminen DNA-vaurioalueille oli puutteellista. BRIP1- (FANCJ) ja CHK1-geeneistä etsittiin laajoja genomisia uudelleenjärjestelyjä, mutta niitä ei havaittu. Näin ollen kyseisillä muutoksilla ei ole merkittävää roolia perinnöllisessä rintasyöpäalttiudessa suomalaisessa väestössä. FANCA-geenissä havaittiin laaja heterotsygoottinen deleetio yhdessä tutkitusta 100 rintasyöpäperheestä. Deleetio poistaa geenin promoottorialueen lisäksi sen 12 ensimmäistä eksonia. Deleetioalleelia ei havaittu terveissä kontrolleissa, joten se mahdollisesti liittyy perinnölliseen rintasyöpäalttiuteen. Tutkimus on ensimmäinen, jossa raportoidaan laaja genominen deleetio FA-signaalinsiirtoreitin ylävirran geenissä familiaalisessa rintasyövässä
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Mozersky, J. "'Ashkenazi mutations' and the BRCA genes : genetics, disease and Jewish identity." Thesis, University College London (University of London), 2009. http://discovery.ucl.ac.uk/19035/.

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This thesis explores the increased risk of genetic breast cancer for Ashkenazi Jews who are at significantly increased risk of carrying three specific mutations in the high risk breast cancer genes, BRCA1 and BRCA2. The Ashkenazi Jewish population has the highest known risk of genetic breast cancer and are the most well researched in relation to genetic disease. They are believed to have a particularly supportive and unique relationship with genetics, despite also having a history of discrimination that includes claims of biological inferiority. The use of racial or ethnic groups in genetic research is highly contentious and the implications for those populations being studied are usually assumed to be negative. There is also significant discussion about the potential of new genetic knowledge to transform individual and collective identity and alter how individuals conceive of themselves and the groups to which they belong. This thesis contributes to both of these areas of debate by exploring the implications for individuals of knowing that they are at increased risk of genetic breast cancer because they are of Ashkenazi Jewish origin. It specifically addresses whether being at increased risk has an impact on how Ashkenazi Jewish women feel about their own Jewish identity, whether they have concerns about current genetic research related to them, and if they are particularly supportive as if often claimed. Evidence is provided principally from qualitative interview material with Ashkenazi women at increased risk of genetic breast cancer as well as non high risk individuals. The qualitative data is supplemented by a quantitative survey. Ethnic identity can be an important mediating factor for the ways in which genetic knowledge is interpreted and genetic medicine can become intertwined with culturally specific issues. Ashkenazi Jews conceive of themselves, their history and their future in ways that are compatible with new genetic knowledge. While it is important not to assume there are necessarily damaging or transformative consequences for those populations that are the subjects of genetic research, there were implications for Ashkenazi women and their disease was interwoven with their identity in complex ways.
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Skoulidis, Ferdinandos. "Models of pancreatic carcinogenesis associated with inactivation of the BRCA2 breast cancer susceptibility gene." Thesis, University of Cambridge, 2011. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.609916.

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PRESNEAU, NADEGE. "Recherche de mutations constitutionnelles dans les genes de predispositions hereditaires aux cancers du sein et/ou de l'ovaire : brca-1, brca-2. recherche de nouveaux genes suppresseurs de tumeur impliques dans l'oncogenese mammaire." Clermont-Ferrand 2, 1999. http://www.theses.fr/1999CLF21122.

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Le gene brca-1 (breast cancer n 1), implique principalement dans une predisposition hereditaire au cancer du sein pre menopausique, localise sur le chromosome 17 en 17q12-21, a ete clone en 1994 par l'equipe de mark skolnik. Un deuxieme gene de predisposition hereditaire au cancer du sein, brca-2, a ete localise en 13q12-13 et clone en 1995. Au total, 52% des familles seraient porteuses d'une mutation brca-1, 35% porteuses d'une mutation brca-2 et 13% des familles liees a d'autres genes. Notre travail de these s'est ainsi inscrit dans un contexte general d'etude des predispositions hereditaires aux cancers du sein et/ou de l'ovaire. Cette etude a comporte deux objectifs majeurs. Notre etude a permis d'evaluer la reelle proportion de familles francaises a haut risque de cancers du sein et/ou de l'ovaire porteuse d'une mutation constitutionnelle du gene brca-1. En effet, des mutations germinales dans le gene brca-1 ont ete detectees dans 24% des familles francaises a haut risque de cancers du sein et/ou de l'ovaire, confirmant les resultats deja publies par d'autres equipes francaises. Puisque seulement 17 de nos familles sur les 70 etaient porteuses d'une mutation germinale de brca-1, nous avons recherche pour, ces meme 70 familles, l'eventuelle presence de mutations constitutionnelles dans le gene brca-2. Les premiers resultats de ce travail ont montre que 3 familles etaient porteuses d'une mutation du gene brca-2. Ainsi il apparait maintenant evident qu'il existe plusieurs genes de predispositions hereditaires aux cancers du sein et/ou des ovaires en plus de brca-1 et brca-2. Ainsi, la deuxieme partie de notre travail a consiste a rechercher des nouveaux genes de type oncosuppresseurs pouvant etre implique dans la tumorogenese mammaire. Ces genes peuvent etre impliques de facon indirecte par une eventuelle interaction avec les genes brca mais peuvent etre egalement impliques plus directement en etant eux-memes des genes candidats pour les genes brca-x. Par la technique de ddrt-pcr, nous avons ainsi recherche l'expression differentielle entre le tissu normal mammaire et le tissu tumoral mammaire d'une patiente (mme lp) dont la predisposition hereditaire semblait etre liee ni a brca-1 ni a brca-2. Ainsi, nous avons pu identifier plusieurs sequences differentielles dont une seule pourrait etre interessante a exploiter en clonant son adnc complet via une sequence genomique clone dans un vecteur de type pac (z84477 ncbi) avec la quelle notre sequence presente 100% d'homologie sur la totalite de sa sequence (82 pb).
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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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Books on the topic "BRCA genes"

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Gabriel, Sarah. Eating pomegranates: A memoir of mothers, daughters, and the BRCA gene. New York: Scribner, 2009.

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Herrlinger, Karolina Anna. Die Patentierung von Krankheitsgenen: Dargestellt am Beispiel der Patentierung der Brustkrebsgene BRCA 1 und BRCA 2. Köln: Heymanns, 2005.

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Gabriel, Sarah. Eating pomegranates: A memoir of mothers, daughters and genes. Rearsby: Clipper Large Print, 2010.

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author, Gosline Diana, and Smith Diana author, eds. Deleterious: A Mutant Gene Zine. Portland, OR: the authors, 2015.

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Gabriel, Sarah. Eating pomegranates: A memoir of mothers, daughters, and the BRCA gene. New York: Scribner, 2010.

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H, Lu Karen, ed. Hereditary gynecologic cancer: Risk, prevention, and management. New York: Informa Healthcare, 2008.

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service), SpringerLink (Online, ed. The Role of Genetics in Breast and Reproductive Cancers. New York, NY: Springer Science+Business Media, LLC, 2010.

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Simons, Amanda Marie. Biochemical functions of BRCA1 protein complexes. 2006.

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Breast Cancer Gene Research and Medical Practices: Transnational Perspectives in the Time of Brca. Routledge, 2014.

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GIBBON, SAHRA, Jessica Mozersky, Andrea zur Nieden, Galen Joseph, and Sonja Palfner. Breast Cancer Gene Research and Medical Practices: Transnational Perspectives in the Time of BRCA. Taylor & Francis Group, 2014.

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Book chapters on the topic "BRCA genes"

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Golen, Kenneth L., and Sofia D. Merajver. "Structure and Function of BRCA Genes." In Endocrine Oncology, 337–51. Totowa, NJ: Humana Press, 2000. http://dx.doi.org/10.1007/978-1-59259-223-4_18.

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Han, Sang-Ah, and Sung-Won Kim. "BRCA and Breast Cancer-Related High-Penetrance Genes." In Advances in Experimental Medicine and Biology, 473–90. Singapore: Springer Singapore, 2021. http://dx.doi.org/10.1007/978-981-32-9620-6_25.

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Zhu, Yining, Ethan Sun, and Yongsheng Bai. "Dissecting Biological Functions for BRCA Genes and Their Targeting MicroRNAs Within Eight Clusters." In Big Data – BigData 2020, 247–51. Cham: Springer International Publishing, 2020. http://dx.doi.org/10.1007/978-3-030-59612-5_18.

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Venkitaraman, Ashok R. "Breast Cancer Genes BRCA1 and BRCA2." In Encyclopedia of Cancer, 510–13. Berlin, Heidelberg: Springer Berlin Heidelberg, 2011. http://dx.doi.org/10.1007/978-3-642-16483-5_718.

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Saleem, Mohamed, Mohd Bazli Ghazali, Md Azlan Mohamed Abdul Wahab, Narazah Mohd Yusoff, Hakimah Mahsin, Ch’ng Ewe Seng, Imran Abdul Khalid, Mohd Nor Gohar Rahman, and Badrul Hisham Yahaya. "The BRCA1 and BRCA2 Genes in Early-Onset Breast Cancer Patients." In Advances in Experimental Medicine and Biology, 1–12. Cham: Springer International Publishing, 2018. http://dx.doi.org/10.1007/5584_2018_147.

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Tavtigian, Sean V. "Unclassified Variants in the Breast Cancer Susceptibility Genes BRCA1 and BRCA2." In The Role of Genetics in Breast and Reproductive Cancers, 49–73. New York, NY: Springer New York, 2009. http://dx.doi.org/10.1007/978-1-4419-0477-5_3.

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Hampl, M., J. Hampl, St Frank, M. Hahn, M. Nagel, D. Ockert, G. Schackert, H. D. Saeger, and H. K. Schackert. "Allelverlust von prädisponierenden Genen (BRCA1, BRCA2, AT, p53) bei Mammakarzinomen und deren Metastasen." In Chirurgisches Forum ’96 fur experimentelle und klinische Forschung, 201–4. Berlin, Heidelberg: Springer Berlin Heidelberg, 1996. http://dx.doi.org/10.1007/978-3-642-80138-9_41.

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Mansoor, Sheikh, Usma Manzoor, Aabid Mustafa Koul, Shahid M. Baba, Ina Amin, Iqra Anwar, Qurat ul Aein, and Arshad A. Pandith. "Implications of BRCA1, BRCA2 Gene in Overall Development and Prognosis of Breast Cancer." In Breast Cancer: From Bench to Personalized Medicine, 87–112. Singapore: Springer Nature Singapore, 2022. http://dx.doi.org/10.1007/978-981-19-0197-3_5.

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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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Eißing, Tabea. "Vorbeugen und Verhindern. Über den vereindeutigenden Umgang mit Unsicherheit bei Frauen mit einer BRCA-Mutation." In Die Regierung der Gene, 57–82. Wiesbaden: Springer Fachmedien Wiesbaden, 2015. http://dx.doi.org/10.1007/978-3-658-09651-9_3.

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Conference papers on the topic "BRCA genes"

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Farias, Stephanie Freire Soares de, Graziela Gama da Conceição Gomes, Biatriz Costa Diniz, CAIO DE BRITO MATOS, and MARCOS VINÍCIUS SOUZA DE ALMEIDA. "GENES RELACIONADOS AO CÂNCER DE MAMA: UM ESTUDO ACERCA DOS ONCOGENES." In I Congresso Nacional de Pesquisas e Estudos Genéticos On-line. Revista Multidisciplinar em Saúde, 2022. http://dx.doi.org/10.51161/geneticon/9136.

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Introdução: O câncer de mama é uma patologia relacionada a mutações genéticas, como alterações patológicas em genes como: BRCA 1 e BRCA 2. De acordo com dados do Instituto Nacional do Câncer, no ano de 2022, é estimado 68.280 novos casos, número que representa uma incidência de 43,74 casos por 100 mil individuos do sexo feminino. Objetivo: entender a relação dos genes com o desenvolvimento do câncer de mama. Materiais e Métodos: foi realizado um levantamento bibliográfico nos bancos de dados online NCBI, Scielo e Lilacs, durante o mês de junho de 2022, utilizando as palavras-chaves, isoladas e combinadas na língua portuguesa: câncer de mama, oncogenes e genes. Os artigos selecionados atendem ao período de 2017 a 2022, abordando a relação de genes com o câncer de mama. Resultados e Discussões: Foram identificados 32 artigos, dos quais 5 foram selecionados. Observou-se que a incidência do câncer de mama em portadores da mutação nos genes BRCA 1 e BRCA 2 são maiores que em vítimas do câncer de mama esporádico. Além disso, apesar de raro, a hereditariedade se configura como fator de risco para o desenvolvimento desse tipo de câncer, pois mutações nos genes BRCA 1 e BRCA 2 podem estar presentes nas células germinativas. Tais genes são designados genes supressores tumorais e se encontram associados à atividade celular, por exemplo o reparo de danos ao DNA, o ajuste da expressão gênica e o comando do ciclo celular. Assim, esses genes têm correspondência e ação essencial no câncer de mama genético, já que mutações nesses genes exprimem 85% dos sucedidos de câncer de mama. Ademais, visto que os genes BRCA1 e BRCA2 estão descritos como genes supressores de tumor, são encarregados pela regulação a proliferação celular de forma negativa e atuam na apoptose, ou seja, uma imperfeição ou outra variação em algum desses genes contribui para o acréscimo da predisposição ao câncer de mama. Conclusão: o câncer de mama é acometido em pacientes com mutações nos genes BRCA 1 e BRCA 2, sendo fundamental aprofundar pesquisas para melhor entender a atuação desses genes na fisiopatologia do câncer de mama.
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Gomes, Marina Macedo, and Kamylle Cynnara Tavares da Silva. "MUTAÇÃO DOS GENES BRCA1 E BRCA2 COMO ETIOLOGIA GENÉTICA DO CÂNCER DE MAMA." In XXVII Semana de Biomedicina Inovação e Ciência. Editora IME, 2021. http://dx.doi.org/10.51161/9786588884119/8.

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Introdução: Tendo em vista que mulheres portadoras de mutações em BRCA1 ou BRCA2 apresentam um risco de câncer de mama ao longo da vida de 50% a 85%,(5) as alterações herdadas desses genes se apresentam como considerável fator de risco para o desenvolvimento dessa categoria de câncer. Logo, a compreensão dessa correlação corresponde a um importante aspecto para o manejo de famílias de alto risco para câncer de mama. Objetivos: O presente trabalho apresenta como objetivo reunir informações relacionadas a presença de mutações nos genes BRCA1 e BRCA2 como etiologia genética do câncer de mama hereditário. Métodos: Para a construção deste trabalho o conteúdo literário foi obtido, a partir, do acesso às publicações disponíveis na plataforma de busca do Google Acadêmico, encontradas mediante a utilização das palavras-chave, e oriundos de sites, como PubMed-NCBI (National Library of Medicine). Resultados: Os genes BRCA foram classificados como genes supressores de tumores, apresentam estruturas complexas com cerca de 100 Kb sendo encontrados nos braços longos dos cromossomos 17 para BRCA1 e 13 para BRCA2.(1)(2)(5) Eles codificam proteínas essenciais para reparação do DNA, indução da apoptose e regulação da atividade de outros genes, logo, quando são inativados, devido às mutações, esses mecanismos são desregulados provocando os efeitos característicos da neoplasia.(1)(2)(5) As mutações nesses genes são herdadas de maneira autossômica dominante, mas agem recessivamente no nível celular, sendo necessário, para o desenvolvimento de neoplasia, ocorrer a perda da função de ambos alelos, de modo que um alelo mutante seja herdado e o segundo silenciado por uma mutação somática.(1)(2)(3) Desse modo, os portadores necessitam de menos alterações somáticas para ocorrência da inativação das proteínas codificadas, por consequência maior probabilidade de desenvolver o câncer de mama.(1)(2)(3) Observa se, ademais, que os tumores relacionados a BRCA1 e BRCA2 diferem quanto a sua aparência histopatológica, características citológicas e arquitetônicas, tanto entre si como em relação aos cânceres esporádicos, evidenciando a possível necessidade de desenvolvimento de terapias mais específicas.(1)(4) Conclusões: Dessa forma, é possível concluir como ocorre as mutações herdadas dos genes BRCA1 e BRCA2, e sua associação com a predisposição dos portadores dessas mutações com o maior risco de desenvolvimento de câncer de mama. Com isso, para obtenção de tratamentos e prognósticos melhores, faz-se oportuna o estudo e divulgação dessa etiologia genética do câncer de mama.
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Carvalho, Débora Medeiros de, Kamila Bezerra Fernandes Diocesano, Sabas Carlos Vieira, Maysa Gabriela Costa Cruz, Fernanda Jorge Martins, Camila Holanda de Sousa, and Nívya Emanuele Vilarinda dos Santos. "Epidemiological and histo-molecular profile of patients with breast cancer who underwent genetic testing at a tertiary clinic in northeastern Brazil." In Brazilian Breast Cancer Symposium 2023. Mastology, 2023. http://dx.doi.org/10.29289/259453942023v33s1069.

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Objective: The aim of this study was to describe the epidemiological and histo-molecular profile of patients with breast cancer (CAM) who underwent genetic testing at an oncology clinic in northeastern Brazil. Methodology: This is a retrospective cohort study on patients with CAM who underwent genetic testing from 1998 to 2022 at a tertiary clinic in northeastern Brazil and who underwent multigene panel testing for hereditary cancer predisposition syndromes. Results: Data were collected from 208 patients, of which 122 had CAM. Of these, 14.75% were BRCA1, 11.47% were BRCA 2, 15.57% were VUS, 4.09% were other high penetrance mutations, and 54.12% did not have mutations. The most prevalent histological type was non-special carcinoma (42.62%) and the second was carcinoma in situ (37.70), 3.27% micropapillary, 5.73% lobular, and 0.81% inflammatory. The most prevalent molecular type in the sample was HER 2 (44.26%), and triple-negative was the second most prevalent (16.39%), 40% corresponding to luminal HER 2 and luminal. However, among the BRCA 1 and 2 mutations, the most prevalent molecular type was the triple-negative (34.37% of a total of 32 BRCA 1 and 2). The age with the most prevalent CAM was the range of 35–45 years with 32.78%. In addition, 99% of the patients were female and 1% were male (only one male), 43.4% of the tumors were grade 2, and 55.73% of the lymph nodes were not involved, with 17.2% of the only 1 affected lymph node. Conclusion: It is concluded that the most significant mutations are in the BRCA 1 and 2 genes with the triple-negative molecular type being the most prevalent in these genes, showing that the results corroborate the data already existing in the literature, as well as the importance of the genetic panel for the best individualization and optimization of treatments.
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Molokov, A. Yu, P. A. Gervas, and N. V. Cherdyntseva. "THE IDENTIFICATION BY EXOME SEQUENCING OF CANDIDATE BREAST CANCER GENES IN BRCA-NEGATIVE TUVAN PATIENTS." In X Международная конференция молодых ученых: биоинформатиков, биотехнологов, биофизиков, вирусологов и молекулярных биологов — 2023. Novosibirsk State University, 2023. http://dx.doi.org/10.25205/978-5-4437-1526-1-349.

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Breast cancer (BC) occupies a leading position in terms of morbidity worldwide. At the moment, there is an active study of genes involved in the pathogenesis of breast cancer, specific for the ethnic groups of the Russian Federation. In order to search for new genes associated with hereditary breast cancer, we performed exome sequencing of the material of patients of the Tuvan ethnic group diagnosed with breast cancer. Performed exome sequencing showed that the LGR4 gene could be involved in the pathogenesis of breast cancer.
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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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Heinzen, Rebeca Neves, Maria Eduarda Meyer, Liliane Raupp Gomes Pizatto, and Adriana Magalhães de Oliveira Freitas. "PREVALENCE OF VARIANTS OF UNCERTAIN SIGNIFICANCE IN TESTS REQUESTED FOR BREAST CANCER PATIENTS IN A PRIVATE SERVICE." In Scientifc papers of XXIII Brazilian Breast Congress - 2021. Mastology, 2021. http://dx.doi.org/10.29289/259453942021v31s1049.

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Introduction: The genetic mutations test among breast cancer (BC) patients is one of the steps for the diagnosis in the majority of the patients. To identify and manage patients with hereditary predisposition to cancer is also a competence of the breast surgeon. The development of Next Generation Sequence (NGS) has allowed the reduction of the tests’ cost as well as the expansion of the analyzed genes, besides BRCA 1 and 2, and the inclusion of new genes of high and moderate penetrance. There is a concern about the impact of these results because there is not a well-established conduct for all the mutations as well as for the increase of the diagnoses of variant of uncertain significance (VUS) diagnosed in the panels, mostly in patients that did not receive a formal genetic counseling. Studies show that the larger number of analyzed genes is related to a better chance of detecting VUS, reaching 40%, but they are not conduct modifiers. The literature shows that approximately 90% of VUS are reclassified as benign. Objectives: To assess prevalence of VUS in multigenic panels requested by the non-geneticist physician, in private office, performed on patients with BC diagnosis. Methods: A retrospective cross-sectional study was conducted based in data from invasive BC patients or in situ or with high risk for neoplasia that attended a private office and were subjected to multigenic panels requested by the non-geneticist physician from January 2019 to January 2020. Statistical analysis frequency measurements were analyzed in Excel Office®. Results: 147 patients underwent the genetic test of 83 genes with NGS technology. Only one was a male. Among the tests performed, 48 were negative for pathogenic variants and 23 were positive for pathogenic mutations in 22 (15%) patients, the most common being in BRCA2 gene (7 cases), followed by MUTHY (6 cases). 137 VUS occurred in 77 (52.4%) patients, the most common of these being in gene POLE and RECQL4. Conclusions: The data found in our population match the literature, showing more than half of the patients with VUS. This demonstrates the importance of test interpretation as well as inpatient correct orientation.
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Paixão, Daniele, Giovana Tardin Torrezan, Karina Miranda Santiago, Maria Nirvana Formiga, Emmanuel Dias Neto, Israel Tojal da Silva, Paz Polak, and Dirce Maria Carraro. "MULTIGENE PANEL TESTING FOR BREAST CANCER PREDISPOSITION IN BRAZILIAN PATIENTS." In Brazilian Breast Cancer Symposium 2022. Mastology, 2022. http://dx.doi.org/10.29289/259453942022v32s2016.

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Objective: Only 5–10% of breast cancer (BC) is related to inherited genetic variants, and BRCA1 and BRCA2 mutations are responsible for the majority of cases. BRCA1 is more associated with triple-negative and BRCA2 to the luminal subtype. The contribution of other genes of high and moderate risk for BC, such as TP53, STK11, CDH1, PTEN, ATM, CHEK2, and PALB2, are not well defined, and risk estimates to specific BC subtype are lacking, especially for an admixed population like Brazilian. The aim of this study was to evaluate the contribution of the multigene panel in detecting germline mutations in Brazilian BC patients and their relationship with molecular subtypes and predominant ancestry. Methods: A 94-gene panel was performed on 321 patients with BC fulfilling NCCN criteria who were referred for BRCA1/2 testing between August 2016 and May 2018. Molecular subtypes were retrieved from medical records, and ancestry-specific variants were obtained from the sequencing data. Results: A panel analysis of 321 patients resulted in a total of 83 pathogenic/likely pathogenic (P/LP) variants identified in 81 patients, leading to a positivity rate of 25%. Of the total P/LP variants, 47% were identified in high-risk BC genes (BRCA1/2, PALB2, and TP53) and 17% in moderate-penetrance genes (ATM and CHEK2). The remainders of the variants were identified in low-risk genes and were considered unexpected findings. Variants of uncertain significance were identified in 77.6% of the patients. Regarding the molecular subtype, triple-negative BC had a mutation frequency of 32% (25/79), with predominance in BRCA1 (40%). Among the luminal subtype, 19% (29/155) had P/LP variants, with BRCA1/2 genes contributing to 38% of mutated cases. For the Luminal B HER2-positive subtype, 40% (16/40) had P/LP variants, with a predominance of the ATM gene (37%). Finally, the HER2-enriched subtype presented a mutation rate of 31% (4/13; 1 BRCA2 and 3 non-BRCA1/2). We did not detect any association of ancestry with P/LP variants or molecular subtypes. Conclusion: The multigene panel contributed to identify P/LP variants in other actionable genes besides BRCA1/2, increasing 7.2% of the positivity of the genetic test. Additionally, our results highlight the distinct contributions of BC genes in each molecular subtype. These results indicate that women with clinical criteria for hereditary BC may benefit from multigene panel testing as it allows them to identify P/LP variants in other BC susceptibility genes, including actionable genes, which directly impact the clinical management of these patients and family members.
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Brianese, Rafael Canfield, Karina Miranda Santiago, Giovana Tardin Torrezan, Marina de Brot, José Claudio Casali da Rocha, Fabiana Baroni Alves Makdissi, and Dirce Maria Carraro. "MULTIGENE GERMLINE NGS TESTING IN TRIPLENEGATIVE BREAST CANCER (TNBC)." In Brazilian Breast Cancer Symposium 2022. Mastology, 2022. http://dx.doi.org/10.29289/259453942022v32s2006.

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Objective: Triple-negative breast cancer (TNBC) is a breast cancer subtype strongly associated with BRCA1 germline mutations that are involved in homologous recombination DNA repair deficiency (HRD). Tumors with HRD may benefit from DNA-damage-inducing agents and PARP inhibitors. We aim to characterize germline mutations in HRD-related genes in TNBC and associate them with clinical data. Methods: TNBC patients (n=117) attending the A.C.Camargo Cancer Center had genetic testing performed by NGS (26–127 cancer predisposition gene panels) in leukocyte/saliva DNA. When possible, germline variants were screened in tumor DNA for loss-of-heterozygosity (LOH). Results: All patients were screened for germline variants: 26% (30/117) were Hereditary HRR-related, 21% BRCA1, 2% BRCA2, 2% PALB2, and 1% RAD51. For women diagnosed at a young age (<40 years), this rate increases to 38% (20/52), 31% BRCA1, 4% BRCA2, 2% PALB2, and 1% RAD51. In addition, 37% of cases presented variants of uncertain significance (VUS). LOH analysis showed that 100% (6/6) of pathogenic variants had LOH, while only 30% of VUS had LOH. Interestingly, for two cases with concurrent pathogenic and VUS, only the pathogenic variant exhibits LOH. Additionally, 47% (7/15) of the VUS with LOH were in HRR-related genes. Conclusion: The majority of germline variants in TNBC are in the BRCA1 gene, but other HRR-related genes also contribute to HRD. LOH analysis may help classify VUS regarding pathogenicity.
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Amorim, Ísis Salviano Soares de, Priscyanne Barreto Siqueira, Mariana Moreno de Sousa Rodrigues, and Andre Luiz Mencalha. "GENOMIC AND CLINICAL DATA ANALYSIS OF APE1 PROTEIN, BREAST CANCER STEM CELL PHENOTYPE, AND HYPOXIC TUMOR MICROENVIRONMENT." In Brazilian Breast Cancer Symposium 2022. Mastology, 2022. http://dx.doi.org/10.29289/259453942022v32s2004.

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Introduction: Breast cancer (BC) is a heterogeneous disease at cellular and molecular levels. BC tumors present a cellular subpopulation of breast cancer stem cells (BCSCs) linked with tumor initiation and progression, recurrence, and therapeutic failure. The BCSC is preferentially found in hypoxic areas of the tumor, which are common features of BC and are significantly associated with worse prognosis. Although hypoxia activates an aggressive BCSC phenotype, the proteins that perform this molecular crossroad are still unknown. Therefore, finding proteins that performed this crossing would help define new promisors’ clinical strategies. Apurine/Apyrimidine Endonuclease 1 (APE1) protein has emerged as a new therapeutic target in cancer treatment and is overexpressed in more aggressive BC tumors. However, the relationship of APE1 with BCSC considering the hypoxia microenvironment does not exist. Objectives: This study aimed to analyze the genomic/transcriptomic and clinical data of the APE1, BCSC phenotype, and hypoxic tumors. Methods: Genomic/transcription data and clinical attributes were collected and clustered on the Xena UCSC platform from The Cancer Genome Atlas (TCGA) BRCA database. Clinical molecular signatures from BCSC and hypoxia-related genes were used to separate BC patients in high or low expression groups for these genes and they evaluated their clinical data, including survival and APE1 expressions. Results: Patients with high expression of BCSC-related genes exhibited worse prognosis and overexpression of APE1. Additionally, high expression of hypoxia-related genes was also associated with worse prognosis and exhibited high levels of APE1. Patients with high expression of BCSC genes also exhibited high levels of hypoxia-related genes. APE1, BCSC, and hypoxia-related genes were more expressed in BC compared to adjacent normal samples. Conclusion: Data suggest that APE1 is overexpressed in hypoxia and BCSC phenotype, which are associated with worse prognosis for BC.
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Nero, Camilla, Francesca Ciccarone, Luca Boldrini, Jacopo Lenkowicz, Huong Elena Tran, Maria Teresa Giudice, Francesca Sillano, et al. "#119 Prediction of germline brca 1/2 genes pathogenetic variants from healthy ovaries ultrasound images: radiogenomics as an innovative tool to prevent BRCA-related cancers." In ESGO 2023 Congress. BMJ Publishing Group Ltd, 2023. http://dx.doi.org/10.1136/ijgc-2023-esgo.868.

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Reports on the topic "BRCA genes"

1

Elledge, Stephen J. Identification of Genes Required for the Survival of BRCA 1-/- Cells. Fort Belvoir, VA: Defense Technical Information Center, February 2010. http://dx.doi.org/10.21236/ada523167.

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Elledge, Stephen. Identification of Genes Required for the Survival of BRCA 1-/- Cells. Fort Belvoir, VA: Defense Technical Information Center, February 2011. http://dx.doi.org/10.21236/ada551382.

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Verma, Inder, and Quan Zhu. A Genetic Screen for Genes Involved in BRCA 1 Tumor Suppressor Function. Fort Belvoir, VA: Defense Technical Information Center, March 2007. http://dx.doi.org/10.21236/ada469482.

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Lee, Cheng-Chi. Cloning Human Chromosome 17 Genes: Candidate Genes for BRCA1. Fort Belvoir, VA: Defense Technical Information Center, October 1998. http://dx.doi.org/10.21236/ada361576.

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Rauscher, Frank J. Characterization of Two Proteins Which Interact With the BRCA 1 Gene. Fort Belvoir, VA: Defense Technical Information Center, June 2001. http://dx.doi.org/10.21236/ada406224.

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Lobenhofar, Edward K., and Jeff Marks. Characterization of the Breast Cancer Susceptibility Gene BRCA2. Fort Belvoir, VA: Defense Technical Information Center, September 2000. http://dx.doi.org/10.21236/ada395289.

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Lynch, Dennis M. Cell Cycle Analysis of the BRCA1 Gene Product. Fort Belvoir, VA: Defense Technical Information Center, September 2000. http://dx.doi.org/10.21236/ada405841.

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Wang, Yingcai, and Stuart Aaronson. Functional Analysis of Breast Cancer Susceptibility Gene BRCA2. Fort Belvoir, VA: Defense Technical Information Center, August 1999. http://dx.doi.org/10.21236/ada391163.

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Livingston, David M., and Dennis Lynch. Cell Cycle Analysis of the BRCA1 Gene Product. Fort Belvoir, VA: Defense Technical Information Center, September 1999. http://dx.doi.org/10.21236/ada377810.

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King, Mary-Claire, and Warren Winkelstein Jr. Genetic Alterations in Familial Breast Cancer: Mapping and Cloning Genes Other than BRCA1. Fort Belvoir, VA: Defense Technical Information Center, September 1996. http://dx.doi.org/10.21236/ada328004.

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