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Journal articles on the topic 'BRCA2 Genes'

Author: Grafiati

Published: 4 June 2021

Last updated: 26 July 2025

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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

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2

Bracci, Ciarapica, Zabaleta, et al. "BRCA1 and BRCA2 Gene Expression: Diurnal Variability and Influence of Shift Work." Cancers 11, no. 8 (2019): 1146. http://dx.doi.org/10.3390/cancers11081146.

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BRCA1 and BRCA2 genes are involved in DNA double-strand break repair and related to breast cancer. Shift work is associated with biological clock alterations and with a higher risk of breast cancer. The aim of this study was to investigate the variability of expression of BRCA genes through the day in healthy subjects and to measure BRCA expression levels in shift workers. The study was approached in two ways. First, we examined diurnal variation of BRCA1 and BRCA2 genes in lymphocytes of 15 volunteers over a 24-hour period. Second, we measured the expression of these genes in lymphocytes from

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3

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 (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 stru

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4

Novikova, EI, EA Kudinova, VK Bozhenko, and VA Solodkiy. "Characteristics of BRCA-associated breast cancer in the population of the Russian Federation." Features of HIV and SARS-CoV-2 coinfection in a pandemic, no. 2021(1) (February 2021): 24–29. http://dx.doi.org/10.24075/brsmu.2021.006.

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"Standard" diagnostic panels allow identification of only a few of BRCA1 and BRCA2 gene mutations most common in a population. Therefore, tests relying on such panels may return false negative results, since the coding regions of these genes may have other defects. For breast cancer (BC) patients, false negative test results may translate into selection of inadequate therapy by their doctors. This study aimed to identify the features of BRCA-associated breast cancer in the population of the Russian Federation. The study included breast cancer patients (n = 4440). At the first stage, all patien

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Tabaliuk, Y. O., L. A. Rybchenko, B. T. Klimuk, and S. V. Klymenko. "Screening for mutations in BRCA1 and BRCA2 genes and related perspectives for the healthcare system." Visnik ukrains'kogo tovaristva genetikiv i selekcioneriv 18, no. 1-2 (2021): 44–57. http://dx.doi.org/10.7124/visnyk.utgis.18.1-2.1354.

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In the article there were looked some aspects of the knowledge regarding mutations in BRCA1 BRCA2 genes that have been accumulated since the first report on role of these genes in the development of breast and ovarian cancer. Most of them have practical worth related to the detection of mutations, as well as the prevention and treatment of associated ovarian cancer (the article focuses specifically on ovarian cancer, conditioned to relatively less amount of information on this pathology). There has been paid attention to the rational assignment of a genetic test on the presence of mutations in

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6

McNevin, Ciara S., Karen Cadoo, Anne-Marie Baird, et al. "Pathogenic BRCA Variants as Biomarkers for Risk in Prostate Cancer." Cancers 13, no. 22 (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

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7

Wen, Lu, Xiuxiu Li, Junping Shi, et al. "Allele-specific expression mediates primary resistance to poly (ADP-ribose) polymerase inhibitor therapy in a case of BRCA1/2 double-germline mutant gastric cancer." Journal of International Medical Research 48, no. 3 (2019): 030006051988622. http://dx.doi.org/10.1177/0300060519886226.

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Breast cancer gene 1 and 2 ( BRCA1 and BRCA2) are human tumor suppressor genes. BRCA mutations increase the risk for breast, ovarian, and gastric cancer. However, double heterozygosity for BRCA1 and BRCA2 mutations in gastric cancer have not been reported and their clinical significance is unclear. In this study, a 52-year-old Chinese male patient with gastric cancer was chosen for analysis. A tumor tissue biopsy and blood sample were collected, and next-generation sequencing-based deep panel sequencing was performed on the IlluminaNextSeq-500 platform. Comprehensive genomic alterations of 450

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8

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

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9

Woodward, Emma R., and Stefan Meyer. "Fanconi Anaemia, Childhood Cancer and the BRCA Genes." Genes 12, no. 10 (2021): 1520. http://dx.doi.org/10.3390/genes12101520.

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Fanconi anaemia (FA) is an inherited chromosomal instability disorder characterised by congenital and developmental abnormalities and a strong cancer predisposition. In less than 5% of cases FA can be caused by bi-allelic pathogenic variants (PGVs) in BRCA2/FANCD1 and in very rare cases by bi-allelic PGVs in BRCA1/FANCS. The rarity of FA-like presentation due to PGVs in BRCA2 and even more due to PGVs in BRCA1 supports a fundamental role of the encoded proteins for normal development and prevention of malignant transformation. While FA caused by BRCA1/2 PGVs is strongly associated with distinc

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10

Hou, Minmin, Li Sun, Xiuzhang Yu, et al. "The landscape of BRCA1 and BRCA2 alterations in Chinese ovarian cancer patients." Journal of Clinical Oncology 41, no. 16_suppl (2023): e17565-e17565. http://dx.doi.org/10.1200/jco.2023.41.16_suppl.e17565.

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e17565 Background: BRCA1 and BRCA2 are tumour suppressor genes, involved in the homologous repair of double-stranded DNA breaks, located at 17q21.31 and 13q13.1, respectively. Germline BRCA1/2 mutations are identified in 13-15% of ovarian cancers (OC), while an additional 5-7% of ovarian cancers harbor somatic BRCA1/2 mutations among foreign populations. To determine the landscape of germline and somatic pathogenic BRCA1 and BRCA2 alterations in Chinese patients with ovarian cancer tested by next‐generation sequencing (NGS), with the aim of defining the best strategy to be implemented in futur

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11

Bisgin, Atil, Ibrahim Boga, Ozge Sonmezler, Cem Mujde, Abdullah Hanta, and Sevcan Tug Bozdogan. "Meta-analysis and single-center experience on the comprehensive genomic characterization and landscape of BRCA1 and BRCA2 in Turkey." Journal of Clinical Oncology 38, no. 15_suppl (2020): e13611-e13611. http://dx.doi.org/10.1200/jco.2020.38.15_suppl.e13611.

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e13611 Background: The detection of BRCA1 and BRCA2 mutations both somatic and germ-line became essential for the clinical management strategies of different cancers. Aiming at the identification of common and recurrent mutations that answer the questions about the association between a variant and phenotype, we collected the data of 1126 probands with pathogenic, likely pathogenic variants and variants of uncertain significance (VUS) distributed across 22 Turkish cities. Methods: Peripheral blood samples from 1126 individuals were collected and sequenced via the GeneReader (Qiagen, Hilden, Ge

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12

Reisinger, Raquel, Sergiusz Wesolowski, Umang Swami, et al. "Differences in the genomic landscape of advanced prostate cancer (aPC) patients (pts) with BRCA1 versus BRCA2 mutations as detected by machine learning analysis of the comprehensive genomic profile (CGP) of cell-free DNA (cfDNA)." Journal of Clinical Oncology 39, no. 6_suppl (2021): 162. http://dx.doi.org/10.1200/jco.2021.39.6_suppl.162.

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162 Background: PARP inhibitors (PARPi) provide significant clinical benefit for men with aPC with BRCA 1 and BRCA 2 mutations. However, in clinical trials, pts with BRCA1 mutations appeared to derive less benefit than pts with BRCA2 (De Bono et al., 2020). Probabilistic Graphical Models (PGMs) are artificial intelligence (AI) algorithms that capture multivariate, multi-level dependencies in complex patterns in large datasets while retaining human interpretability. We hypothesize that PGMs can reveal variants in BRCA1 and 2 that co-segregate with other known pathogenic variants and may explain

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13

Lee, Yen-Chien, Yen-Ling Lee, and Chung-Yi Li. "BRCA Genes and Related Cancers: A Meta-Analysis from Epidemiological Cohort Studies." Medicina 57, no. 9 (2021): 905. http://dx.doi.org/10.3390/medicina57090905.

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Background and Objectives:BRCA1 and BRCA2 are genes located in different chromosomes that are disproportionately associated with hereditary breast and ovarian cancer syndrome. Their association with other cancers remains to be explored. Materials and Methods: We systematically reviewed cohort studies to explore the association of BRCA 1 and BRCA2 with various cancers except lung cancer. We searched PubMed, Medline (EBSCOhost) and relevant articles published up to 10 May 2021. The odds ratio, standardised morbidity rate and cancer-specific standardised incidence ratio were pooled together as re

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De Bono, Johann S., Nobuaki Matsubara, Nicolas Penel, et al. "Exploratory gene-by-gene analysis of olaparib in patients (pts) with metastatic castration-resistant prostate cancer (mCRPC): PROfound." Journal of Clinical Oncology 39, no. 6_suppl (2021): 126. http://dx.doi.org/10.1200/jco.2021.39.6_suppl.126.

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126 Background: The Phase 3 PROfound trial (NCT02987543) met its primary endpoint and key secondary endpoints, including improved overall survival (OS) for olaparib in men with mCRPC with alterations in BRCA1, BRCA2, or ATM (Cohort A). We report gene-by-gene analysis of olaparib antitumor activity among the 15 prespecified homologous recombination repair (HRR) genes. Methods: Pts were randomized to olaparib (300 mg bid; n=256) or physician’s choice of enzalutamide or abiraterone (control; n=131). Exploratory analyses in pts with alterations in BRCA1 and/or BRCA2 (BRCA, regardless of co-occurri

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15

Foglietta, Jennifer, Vienna Ludovini, Fortunato Bianconi, 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 (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 (

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Toss, Angela, Eva Blondeaux, Elena Tenedini, et al. "Association between type of BRCA1/2 pathogenic/likely pathogenic variants and outcome in young patients with breast cancer: Results from an international cohort study." Journal of Clinical Oncology 43, no. 16_suppl (2025): 10509. https://doi.org/10.1200/jco.2025.43.16_suppl.10509.

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10509 Background: Pathogenic/likely pathogenic variants (P/LPVs) in the BRCA1 or BRCA2 genes significantly increase the risk of developing breast cancer (BC) and other malignancies, with distinct clinicopathologic features depending on the gene involved. However, the clinical implications of the type of P/LPVs within BRCA1 or BRCA2 genes remain to be elucidated. Methods: The BRCA BCY Collaboration (NCT03673306) is an international, multicenter, hospital-based, retrospective cohort study that included BRCA carriers diagnosed with invasive BC at the age of ≤40 years between January 2000 and Dece

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Neiger, Hannah E., Emily L. Siegler, and Yihui Shi. "Breast Cancer Predisposition Genes and Synthetic Lethality." International Journal of Molecular Sciences 22, no. 11 (2021): 5614. http://dx.doi.org/10.3390/ijms22115614.

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BRCA1 and BRCA2 are tumor suppressor genes with pivotal roles in the development of breast and ovarian cancers. These genes are essential for DNA double-strand break repair via homologous recombination (HR), which is a virtually error-free DNA repair mechanism. Following BRCA1 or BRCA2 mutations, HR is compromised, forcing cells to adopt alternative error-prone repair pathways that often result in tumorigenesis. Synthetic lethality refers to cell death caused by simultaneous perturbations of two genes while change of any one of them alone is nonlethal. Therefore, synthetic lethality can be ins

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Rhiem, K., C. Fischer, K. Bosse, B. Wappenschmidt, and R. K. Schmutzler. "Increased risk of cervical cancer in high-risk families with and without mutations in the BRCA1 and BRCA2 genes." Journal of Clinical Oncology 25, no. 18_suppl (2007): 5588. http://dx.doi.org/10.1200/jco.2007.25.18_suppl.5588.

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5588 Background: In BRCA germline mutation carriers increased risks for cancer at other sites than breast and ovary have been reported. Methods: To evaluate the risk of BRCA-associated cancers, we conducted a cross-section analysis in 4405 individuals from 409 families with BRCA1 (n=86) or BRCA2 mutations (n=53) and 270 high risk BRCA1/2 negative families ascertained by the Familial Breast and Ovarian Cancer Center Cologne. We considered proven mutation carriers, individuals affected by breast and ovarian cancer and their first degree relatives and identified 921 individuals from BRCA1 (604 fe

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Schwartz, Zachary Phillip, Mae Zakhour, Andrew John Li, et al. "Comparison of risk-reducing surgery in women with BRCA and non-BRCA ovarian cancer susceptibility genes." Journal of Clinical Oncology 37, no. 15_suppl (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.

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Pleșea, Răzvan Mihail, Anca-Lelia Riza, Ana Maria Ahmet, et al. "Clinically Significant BRCA1 and BRCA2 Germline Variants in Breast Cancer—A Single-Center Experience." Cancers 17, no. 1 (2024): 39. https://doi.org/10.3390/cancers17010039.

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Background: Conditions associated with BRCA1/2 pathogenic (PVs) or likely pathogenic variants (LPVs) are often severe. The early detection of carrier status is ideal, as it provides options for effective case management. Materials and Methods: The study involved 58 patients with a personal and familial history of breast cancer (BC) who underwent genetic testing at the Regional Centre for Medical Genetics Dolj over a three-year period. An immunohistochemical panel (HER2, ER, PR, and Ki-67) was used to define the molecular subtypes of breast tumors. The AmpliSeq for Illumina BRCA Panel was used

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Panda, Anshuman, Mark N. Stein, Gregory Riedlinger, Gyan Bhanot, and Shridar Ganesan. "Role for immune checkpoint blockade in BRCA2-mutant prostate cancer." Journal of Clinical Oncology 37, no. 8_suppl (2019): 59. http://dx.doi.org/10.1200/jco.2019.37.8_suppl.59.

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59 Background: Except for rare cases with microsatellite instability, prostate cancer has low mutation burden and low response rate to immune checkpoint blockade (ICB). Genomic correlates of response to ICB in microsatellite stable (MSS) prostate cancer are currently unknown. Here we describe an exceptional response to ICB in BRCA2-mutant prostate cancer and explore immunologic features of BRCA-mutant tumors. Methods: A patient with BRCA2-mutant MSS prostate cancer who progressed on PARP inhibitor therapy was treated with pembrolizumab. Another 8 cases of BRCA2-mutant prostate cancer were eval

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Shweash, Muhannad, Saddam Jumaa Naseer, Maisam Khider Al-anii, and Thulfiqar Fawwaz Mutar. "A MOLECULAR-BASED APPROACH TO INVESTIGATE BREAST CANCER 1 AND BREAST CANCER 2 STATUS IN OVARIAN CANCER AMONG IRAQI WOMEN." Asian Journal of Pharmaceutical and Clinical Research 11, no. 7 (2018): 199. http://dx.doi.org/10.22159/ajpcr.2018.v11i7.25217.

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Objective: Cancer ovary is one of the fatal gynecologic malignancies worldwide. Since breast cancer (BRCA) genes are considered tumor suppressor genes and play important roles in cancer by repairing of chromosomal damage with the error repair of DNA breaks. Therefore, breast cancer 1 (BRCA1) and breast cancer 2 (BRCA2) gene mutations strongly enhance the development of ovarian cancer risk among women. Here, we report that both genes are an essential mediator of progress ovarian cancer, to determine the influence of BRCA1 and BRCA2 mutations in the improvement of ovarian cancer.Methods: A total

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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 (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 ca

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Carbone, Francesca Pia, Pietro Ancona, Stefano Volinia, Anna Terrazzan, and Nicoletta Bianchi. "Druggable Molecular Networks in BRCA1/BRCA2-Mutated Breast Cancer." Biology 14, no. 3 (2025): 253. https://doi.org/10.3390/biology14030253.

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Mutations in the tumor suppressor genes BRCA1 and BRCA2 are associated with the triple-negative breast cancer phenotype, particularly aggressive and hard-to-treat tumors lacking estrogen, progesterone, and human epidermal growth factor receptor 2. This research aimed to understand the metabolic and genetic links behind BRCA1 and BRCA2 mutations and investigate their relationship with effective therapies. Using the Cytoscape software, two networks were generated through a bibliographic analysis of articles retrieved from the PubMed-NCBI database. We identified 98 genes deregulated by BRCA mutat

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Caleca, Laura, Mara Colombo, Thomas van Overeem Hansen, et al. "GFP-Fragment Reassembly Screens for the Functional Characterization of Variants of Uncertain Significance in Protein Interaction Domains of the BRCA1 and BRCA2 Genes." Cancers 11, no. 2 (2019): 151. http://dx.doi.org/10.3390/cancers11020151.

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Genetic testing for BRCA1 and BRCA2 genes has led to the identification of many unique variants of uncertain significance (VUS). Multifactorial likelihood models that predict the odds ratio for VUS in favor or against cancer causality, have been developed, but their use is conditioned by the amount of necessary data, which are difficult to obtain if a variant is rare. As an alternative, variants mapping to the coding regions can be examined using in vitro functional assays. BRCA1 and BRCA2 proteins promote genome protection by interacting with different proteins. In this study, we assessed the

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Sahnane, Nora, Ileana Carnevali, Giorgio Formenti, 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 (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. W

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Parween, Nasreen, Trisha Dutta Gupta, Paridhy Vanniya Subramanyam, et al. "Pan-cancer analysis of the spectrum of homologous recombination DNA repair (HRR) pathway genes in the Indian population: A retrospective observational study." Cancer Research, Statistics, and Treatment 6, no. 4 (2023): 512–25. http://dx.doi.org/10.4103/crst.crst_260_23.

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Background: Homologous recombinant repair (HRR) deficit and the associated sensitivity to poly (ADP-ribose) polymerase inhibitors (PARPi) has been well studied in breast, ovarian, prostate, and pancreatic cancers, but very little is known about it in other cancer types. Objectives: We sought to understand the spectrum of HRR mutations in various cancer types, with the goal of identifying therapeutic targets in lesser-explored cancers. Materials and Methods: In this retrospective study conducted between January 2021 and December 2022, we analyzed a cohort of 659 patients with various cancer typ

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Bayrakli, Fatih, Bekir Akgun, Burcak Soylemez, Metin Kaplan, and Mustafa Gurelik. "Variation in the BRCA2 gene in a child with medulloblastoma and a family history of breast cancer." Journal of Neurosurgery: Pediatrics 8, no. 5 (2011): 476–78. http://dx.doi.org/10.3171/2011.8.peds11210.

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The fact that BRCA genes operate as tumor suppressors is evident from the genetics of the different human disorders caused by inherited mutations. Germline mutations affecting 1 allele of either BRCA1 or BRCA2 confer susceptibility to different types of cancers such as breast cancer and medulloblastoma. A family with a history of cancer was identified in Eastern Turkey in which one of the family members (a 13-year-old boy) had medulloblastoma. Venous blood was collected from available family members. The BRCA1 and BRCA2 genes were sequenced in the patient with medulloblastoma and the healthy f

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Bishop, D. T. "BRCA1, BRCA2, BRCA3… A myriad of breast cancer genes." European Journal of Cancer 30, no. 12 (1994): 1738–39. http://dx.doi.org/10.1016/0959-8049(94)00455-e.

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Richters, Lisa Katharina, Philip C. Schouten, Stefan Kommoss, et al. "BRCA-like classification in ovarian cancer: Results from the AGO-TR1-trial." Journal of Clinical Oncology 35, no. 15_suppl (2017): 5546. http://dx.doi.org/10.1200/jco.2017.35.15_suppl.5546.

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5546 Background: BRCA associated cancers show a distinct pattern of genomic gains and losses that is associated with impaired repair of DNA double-strand breaks via homologous recombination (HR). We investigated whether BRCA1- and BRCA2-like classifiers could predict BRCA1 and BRCA2 mutation status in ovarian cancer. In addition, we explored whether promoter hypermethylation or mutations in other genes involved in DNA repair associate with a BRCA-like profile in ovarian cancer. Methods: The AGO-TR1 cohort study (NCT02222883 ) enrolled 525 consecutive patients with primary (PR) and platinum sen

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Shao, Changxia, Michael S. Chang, Fred C. Lam, et al. "A Systematic Review and Meta-Analysis on the Prognostic Value of BRCA Mutations, Homologous Recombination Gene Mutations, and Homologous Recombination Deficiencies in Cancer." Journal of Oncology 2022 (July 20, 2022): 1–12. http://dx.doi.org/10.1155/2022/5830475.

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Patients with BRCA1/2 mutations (BRCAm), loss-of-function mutations in other homologous recombination repair (HRRm) genes, or tumors that are homologous recombination deficiency positivity (HRD+) demonstrate a robust response to PARPi therapy. We conducted a systematic literature review and meta-analysis to evaluate the prognostic value of BRCAm, HRRm, and HRD+ on overall survival (OS) among those treated by chemotherapy or targeted therapy other than PARPi across tumor types. A total of 135 eligible studies were included. Breast cancer (BC) patients with BRCA1/2m had a similar overall surviva

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Goindani, Piryanka, Ghulam Haider, Ammara ., et al. "Positivity of BRCA 1 & 2 Mutations in Ovarian Cancer." Pakistan Journal of Medical and Health Sciences 17, no. 5 (2024): 681–83. http://dx.doi.org/10.53350/pjmhs2023175681.

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Aim: Ovarian cancer is a significant gynecological malignancy, with mutations in BRCA1 and BRCA2 genes contributing to its development and progression. Methods: This descriptive cross-sectional study was conducted at JPMC Hospital, Karachi, over six months. It involved 159 women aged 18 to 75 years with histopathologically confirmed ovarian cancer. The study employed non-probability consecutive sampling and next-generation sequencing to identify BRCA mutations. Results: The study found a low percentage of participants with a family history of ovarian cancer, a few identified with BRCA1 mutatio

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Tselousova, Olga S., Lyudmila B. Ovsyannikova, and Evgeny G. Stepanov. "Analysis of mutation frequencies of the BRCA1 5382insC and BRCA2 6174delT genes in the population of Ufa city." Ecological genetics 20, no. 1 (2022): 41–47. http://dx.doi.org/10.17816/ecogen76465.

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BACKGROUND: Currently, there is an acute problem of assessing the real genetic danger and the impact of environmental pollution on human health. One of the cities that is affected by the whole complex of anthropogenic mutagenic factors is Ufa (Republic of Bashkortostan). AIM: The aim of the study was to analyze the frequency of pathogenic mutations in the BRCA1 5382insC and BRCA2 6174delT genes in healthy residents of an industrial city. MATERIALS AND METHODS: The mutations were determined by real-time PCR using the TaqMan probe technology on the Bio-Rad CFX96 device (Bio-Rad, USA)

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Jani, Chinmay, Eli Tran, Nicole Zhang, et al. "Molecular evolution of HRR gene alterations in metastatic prostate cancer: A ctDNA-based study." Journal of Clinical Oncology 43, no. 5_suppl (2025): 255. https://doi.org/10.1200/jco.2025.43.5_suppl.255.

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255 Background: Homologous recombination repair (HRR) genes, including DNA repair genes, are increasingly recognized for impacting treatment resistance and prognosis of metastatic prostate cancer (mPC). Next-generation sequencing of circulating tumor DNA (ctDNA) enables non-invasive, longitudinal monitoring of molecular alterations in patients (pts) undergoing systemic therapies. This study explores the dynamic changes in ctDNA profiles in mPC, particularly focusing on the HRR alterations. Methods: We utilized GuardantINFORM, a clinical-genomics database containing de-identified ctDNA test res

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Venkitaraman, Ashok R. "Functions of BRCA1 and BRCA2 in the biological response to DNA damage." Journal of Cell Science 114, no. 20 (2001): 3591–98. http://dx.doi.org/10.1242/jcs.114.20.3591.

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Inheritance of one defective copy of either of the two breast-cancer-susceptibility genes, BRCA1 and BRCA2, predisposes individuals to breast, ovarian and other cancers. Both genes encode very large protein products; these bear little resemblance to one another or to other known proteins, and their precise biological functions remain uncertain. Recent studies reveal that the BRCA proteins are required for maintenance of chromosomal stability in mammalian cells and function in the biological response to DNA damage. The new work suggests that, although the phenotypic consequences of their disrup

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Joó, József Gábor, Szabolcs Ládi, B. Zsolt Nagy, and Zoltán Langmár. "Management of hereditary ovarian cancer." Orvosi Hetilap 152, no. 40 (2011): 1596–608. http://dx.doi.org/10.1556/oh.2011.29218.

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Mutations in BRCA1 and BRCA2 genes account for the majority of hereditary breast and ovarian cancers. Approximately 10% of cases of ovarian cancer are due to germline mutations in BRCA1 and BRCA2. Ovarian cancer associated with BRCA1 and BRCA2 mutations has a distinct histological phenotype. This type of cancer is predominantly of serous or endometrioid histology and is high grade. Patients with BRCA1 or BRCA2 mutations should be offered risk-reducing salpingo-oophorectomy by age 40 years, or when childbearing is complete. Nowadays there are no differences between the treatments provided for s

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Vietri, Maria Teresa, Gemma Caliendo, Giovanna D’Elia, et al. "Five Italian Families with Two Mutations in BRCA Genes." Genes 11, no. 12 (2020): 1451. http://dx.doi.org/10.3390/genes11121451.

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Double heterozygosity (DH) in BRCA1 and BRCA2 genes and double mutation (DM) in BRCA1 or BRCA2 are extremely rare events in the general population, and few cases have been reported worldwide so far. Here, we describe five probands, all women, with breast and/or ovarian cancer and their families. Particularly, we identified two probands with DH in the BRCA1/2 genes with a frequency of 0.3% and three probands with DM in the BRCA2 gene with a frequency of 0.5%. The DH BRCA1 c.547+2T>A (IVS8+2T>A)/BRCA2 c.2830A>T (p.Lys944Ter) and BRCA1 c.3752_3755GTCT (p.Ser1253fs)/BRCA2 c.425+2T>C (I

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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 cr

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Wafa, T. "Contribution of BRCA1 and BRCA2 mutations to breast cancer in Tunisia." Journal of Clinical Oncology 27, no. 15_suppl (2009): e22191-e22191. http://dx.doi.org/10.1200/jco.2009.27.15_suppl.e22191.

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e22191 Background: Hereditary breast cancer accounts for 3–8% of all breast cancers. It was recently estimated that a combination of BRCA1 and BRCA2 genes mutations is responsible for 30% of hereditary breast cancer cases. Methods: To investigate the prevalence of BRCA1 and BRCA2 gene mutations in breast cancer patients with affected relatives in Tunisia, 36 patients who had at least one first degree relative affected with breast and/or ovarian cancer were analysed. Thirty three patients are suggestive of BRCA1 mutation and 3 are suggestive of BRCA2 mutation. Results: Four mutations in BRCA1 g

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Lee, Chang Hyun. "Breast Cancer Gene (BRCA1, BRCA2)." Journal of Medicine and Life Science 1, no. 1 (2003): 1–23. http://dx.doi.org/10.22730/jmls.2003.1.1.1.

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Most women with breast cancer do not have a familial history of the disease in a first degree relative and hereditary breast cancer caused by a mutant gene passed from parents to their children is rare; only 5-10% of breast cancers are estimated to be attributable to the inheritance of rare highly penetrant, germline mutations of genes, although this proportion is at younger ages of diagnosis. Mutations in BRCA1 and BRCA2 are responsible for most of these inherited breast cancers. Hereditary predisposition to breast cancer is responsible for autosomal-dominant transmission. Children of parents

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А., В. Шумицький, А. Бурка О., and В. Сідорова І. "Laboratory assessment of the risks of malignant neoplasms of the mammary gland and ovaries." Reproductive Endocrinology, no. 41 (June 15, 2018): 43–47. https://doi.org/10.18370/2309-4117.2018.41.43-47.

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In most cases, oncological diseases are hereditary: for breast cancer – 5–10%, and for ovarian cancer – 10–17%, and associated with the support of mutations in certain genes derived from one of the parents. Genetic testing can identify predisposition to hereditary forms of cancer and direct efforts to prevent and early diagnosis of cancer. BRCA1 and BRCA2 are the main genes that are involved in the development of hereditary breast and ovarian cancer syndrome. Mutations in the BRCA1 and BRCA2 genes are caused by 20–50% of the hereditary forms of breast cancer, 90&n

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Choi, Doo Ho, Min Hyuk Lee, Allen E. Bale, Darryl Carter, and Bruce G. Haffty. "Incidence of BRCA1 and BRCA2 Mutations in Young Korean Breast Cancer Patients." Journal of Clinical Oncology 22, no. 9 (2004): 1638–45. http://dx.doi.org/10.1200/jco.2004.04.179.

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Purpose The prevalence of BRCA-associated breast carcinoma in the Korean population has not been evaluated extensively. Methods Sixty Korean women who developed breast cancer by age 40 years were studied. Lymphocyte specimens from peripheral blood were processed for BRCA1 and BRCA2 by complete sequencing. Family history through three generations was obtained. Available paraffin-embedded tissue blocks were processed for immunohistochemical staining. Results In the cohort of 60 patients, nine patients with 11 deleterious mutations (six in BRCA1 and five in BRCA2) and seven missense mutations of

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Bahsi, Taha, and Haktan Bağış Erdem. "Spectrum of BRCA1/BRCA2 variants in 1419 Turkish breast and ovarian cancer patients: a single center study." Turkish Journal of Biochemistry 45, no. 1 (2019): 83–90. http://dx.doi.org/10.1515/tjb-2019-0424.

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Abstract Objectives Hereditary breast and ovarian cancer syndrome is chacterized with multiple cases of breast cancer and/or ovarian cancer on the same side of the family. BRCA1/BRCA2 genes are associated with 20–25% of all patients. For developing national health policies for genetic testing, it is important to determine the range of pathogenic mutations in susceptibility genes and to identify recurrent founder mutations. Materials and methods All the patients were provided BRCA testing criteria according to National Comprehensive Cancer Network. QIAseq multiplex amplicon panel, BRCA MASTR™ D

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Ajutor, Lawrence John, Enibokun Theresa Orobator, Blessing Ben Anioke, et al. "BRCA Mutations in Breast Cancer Insights into Genetic Risk and Tailored Therapeutic Interventions." Journal of Cancer and Tumor International 15, no. 2 (2025): 111–25. https://doi.org/10.9734/jcti/2025/v15i2296.

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BRCA1 and BRCA2 genes, located on separate chromosomes, encode crucial multifunctional proteins that are important for correcting errors in DNA replication and cell division. The two genes work in tandem at different stages in the DNA damage response and for DNA repair and could be functionally distorted in cases of mutations. This paper aims to provide insights into clinical BRCA gene mutations associated with breast cancer while also examining therapeutic strategies for BRCA-associated tumours. Data was obtained from studied research found through reputable scholarly search engines like PubM

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Kharel, Sanjeev, Suraj Shrestha, Siddhartha Yadav, Prafulla Shakya, Sujita Baidya, and Suzita Hirachan. "BRCA1/BRCA2 mutation spectrum analysis in South Asia: a systematic review." Journal of International Medical Research 50, no. 1 (2022): 030006052110707. http://dx.doi.org/10.1177/03000605211070757.

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Objective Breast cancer (BC) is the most common form of cancer among Asian females. Mutations in the BRCA1/ BRCA2 genes are often observed in BC cases and largely increase the lifetime risk of having BC. Because of the paucity of high-quality data on the molecular spectrum of BRCA mutations in South Asian populations, we aimed to explore these mutations among South Asian countries. Methods A systematic literature search was performed for the BRCA1 and BRCA2 gene mutation spectrum using electronic databases such as PubMed, EMBASE, and Google Scholar. Twenty studies were selected based on specif

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Kim, Ji Hyun, Hyung Joon Yoon, Hyeong In Ha, et al. "Survival Outcomes Associated with the Location of BRCA Mutations in Ovarian Cancer: A Systematic Review and Meta-Analysis." Cancers 17, no. 10 (2025): 1661. https://doi.org/10.3390/cancers17101661.

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Background/Objective: BRCA1 and BRCA2 genes contain functional domains that operate at different stages of the DNA damage response. Although studies have suggested that the location of BRCA1/2 mutations may influence clinical outcomes, no discernible pattern has been observed indicating which mutation location influences clinical outcomes in patients with ovarian cancer with BRCA1/2 mutations. Therefore, this study aimed to evaluate the differences in survival outcomes between BRCA1/2 mutation locations, with a specific focus on exon 11, in patients with epithelial ovarian cancer. Methods: A c

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de Oliveira, Inês Calvinho, Sofia Fragoso, Sidónia Santos, et al. "Abstract P3-07-04: Geographical patterns of pathogenic genetic variants associated with hereditary breast, ovarian and prostate cancer (HBOPC) in Portugal." Cancer Research 82, no. 4_Supplement (2022): P3–07–04—P3–07–04. http://dx.doi.org/10.1158/1538-7445.sabcs21-p3-07-04.

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Abstract Introduction:HBOPC syndrome is mostly associated with germline pathogenic and likely pathogenic variants (PV) in BRCA1 and BRCA2 genes. Other high and moderate penetrance genes are increasingly diagnosed in these families, especially after implementation of NGS methodologies in clinical practice. In this study we analyze the global and regional mutational patterns of Portuguese HBOPC families, looking for associated phenotypes and possible clusters of specific PV. Methods:Observational study including all index patients (pts) with identified PV in genes associated with breast, ovarian

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Chitra Veena, Sarpparajan, Mohammed Vajagathali, and Veerabathiran Ramakrishnan. "A systematic review on the association between ovarian and prostate cancer with <I>BRCA1</I> and <I>BRCA2</I> gene." Siberian journal of oncology 21, no. 6 (2023): 145–55. http://dx.doi.org/10.21294/1814-4861-2022-21-6-145-155.

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Background. BRCA1 and BRCA2 were discussed as the basis of inherited adenocarcinoma and breast and ovarian malignancy. Ovarian cancer is uncommon in women below 40 years of age, and prostate cancer mainly occurs in older men cause 90 % in those above sixty-fve.Objective. The main objective of this paper is to investigate the relationship between ovarian and prostate cancer with the BRCA1 and BRCA2 genes.Material and Methods. The ovarian and prostate cancer mechanism is discussed in detail, and their preventive measures with screening techniques are also demonstrated. This systematic review col

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Saрtarova, L. M., E. N. Cogina, L. M. Khasanshina, and Sh N. Galimov. "Analysis of BRCA1 and BRCA2 genes mutations in breast cancer patients in an experiment." Kazan medical journal 101, no. 3 (2020): 342–46. http://dx.doi.org/10.17816/kmj2020-342.

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Aim. To assess the presence of mutations based on the analysis of the prevalence of polymorphisms in the BRCA1 and BRCA2 genes in patients admitted to the Republican clinical Oncology dispensary of the Ministry of Health of the Republic of Bashkortostan with breast cancer. Methods. 137 patients with breast cancer aged 25 to 80 years underwent molecular genetic testing to detect BRCA1 and BRCA2 mutations by using allele-specific real-time polymerase chain reaction. Venous blood from 105 healthy donors was used as a control group. Results. The study of genetic modifiers of cancer ris

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Özdemir, K., H. Gürkan, S. Demir, et al. "Investigation of the relationship of TNFRSF11A gene polymorphisms with breast cancer development and metastasis risk in patients with BRCA1 or BRCA2 pathogenic variants living in the Trakya region of Turkey." Balkan Journal of Medical Genetics 23, no. 2 (2020): 49–58. http://dx.doi.org/10.2478/bjmg-2020-0016.

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Abstract Modifying genes play an exclusive role in the genetic regulation of the risk of breast cancer development in women with a pathogenic variation of BRCA1 or BRCA2. Therefore, it has been suggested that TNFRSF11A, which is among those modifying genes present in breast cancer development, may have a significant role in patients with positive BRCA1 or BRCA2 variations. In our study, we investigated the probable effects of single nucleotide polymorphisms (SNPs) in the TNFRSF11A gene, such as rs4485469, rs9646629, rs34739845, rs17069904, rs 884205, rs4941129 on the risk of breast cancer in p

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