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Journal articles on the topic 'BRCA 2'

Author: Grafiati

Published: 2 June 2025

Last updated: 31 July 2025

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1

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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2

Incorvaia, Lorena, Chiara Brando, Alessandro Perez, 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 (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 cli

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3

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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Murciano-Goroff, Yonina R., Alison M. Schram, Ezra Rosen, et al. "BRCA reversion mutations in a pan-cancer cohort to reveal BRCA-dependence in select noncanonical BRCA-mutant histologies." Journal of Clinical Oncology 39, no. 15_suppl (2021): 3012. http://dx.doi.org/10.1200/jco.2021.39.15_suppl.3012.

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3012 Background: Loss of BRCA1/2 function leads to homologous recombination deficiency (HRD) and can enhance platinum and PARP inhibitor sensitivity in breast, pancreas, prostate, and ovarian cancers. In BRCA-associated cancers, resistance can result from the development of BRCA1/2 reversion mutations, which restore BRCA1/2 function. By contrast, a BRCA mutation may be an incidental finding in other tumor histologies. Methods: To determine the distribution of reversion mutations in a pan-cancer cohort, the MSK-IMPACT clinical sequencing cohort was mined to identify patients who had both a germ

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Sandoval, Jose, Marie Charlotte Villy, Intidhar Labidi-Galy, et al. "Genomic instability score (GIS) and benefit from olaparib (ola) and bevacizumab (bev) maintenance in high-grade ovarian cancer (HGOC): Phase III PAOLA-1 GINECO/ENGOT-ov25 trial exploratory analysis." Journal of Clinical Oncology 43, no. 16_suppl (2025): 5576. https://doi.org/10.1200/jco.2025.43.16_suppl.5576.

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5576 Background: The PAOLA-1 trial showed that adding ola to bev as maintenance therapy improved overall survival (OS) of HGOC patients with BRCA1/2 mutations (BRCAm) or homologous recombination (HR) deficiency (HRD) defined by the MyChoice HRD Plus assay with a GIS threshold of 42. This post hoc analysis of PAOLA-1 explored if alternative thresholds could better identify patients who benefit most from ola. Methods: New cutoffs were determined through OS analyses using Cox proportional hazards models with an interaction term for GIS. Tumors were categorized into HRP (GIS<42), HRDlow (42–60

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Sekine, Masayuki, Koji Nishino, and Takayuki Enomoto. "Differences in Ovarian and Other Cancers Risks by Population and BRCA Mutation Location." Genes 12, no. 7 (2021): 1050. http://dx.doi.org/10.3390/genes12071050.

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Hereditary breast and ovarian cancer is caused by a germline mutation in BRCA1 or BRCA2 genes. The frequency of germline BRCA1/2 gene mutation carriers and the ratio of germline BRCA1 to BRCA2 mutations in BRCA-related cancer patients vary depending on the population. Genotype and phenotype correlations have been reported in BRCA mutant families, however, the correlations are rarely used for individual risk assessment and management. BRCA genetic testing has become a companion diagnostic for PARP inhibitors, and the number of families with germline BRCA mutation identified is growing rapidly.

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7

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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8

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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9

Miller, Robert S., Stella Mokiou, Aliki Taylor, Ping Sun, and Katherine Baria. "Real-world clinical outcomes of patients with BRCA-mutated, human epidermal growth factor receptor 2 (HER2)-negative metastatic breast cancer: a CancerLinQ® study." Breast Cancer Research and Treatment 193, no. 1 (2022): 83–94. http://dx.doi.org/10.1007/s10549-022-06541-3.

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Abstract Purpose To investigate real-world clinical outcomes in patients with BRCA-mutated (BRCAm), HER2-negative metastatic breast cancer (mBC) according to BRCA and hormone receptor (HR) status. Methods Patients diagnosed with HER2-negative mBC between 01 January 2010 and 31 December 2018 were retrospectively identified from the American Society of Clinical Oncology’s CancerLinQ Discovery® database. Time to first subsequent therapy or death (TFST) from date of mBC diagnosis and start of first-line treatment for mBC and overall survival (OS) from date of mBC diagnosis were investigated accord

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10

Seeber, Andreas, Kai Zimmer, Florian Kocher, et al. "Molecular characteristics of BRCA1/2 and PALB2 mutations in pancreatic ductal adenocarcinoma." ESMO Open 5, no. 6 (2020): e000942. http://dx.doi.org/10.1136/esmoopen-2020-000942.

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IntroductionPoly-(ADP)-ribose polymerase (PARP) inhibitors are successfully used for treatment of BRCA-mutated (mut) breast cancers and are under extensive evaluation for BRCA- and PALB2-mutated pancreatic ductal adenocarcinoma (PDAC). However, the optimal treatment regimen for BRCA/PALB2-mutated PDCA has yet to be established. Moreover, limited data are available on the association of BRCA/PALB2 gene alterations with other comutations and immunological biomarkers.Material and methodsTumour samples of 2818 patients with PDAC were analysed for BRCA1/2 PALB2 mutations and other genes by next-gen

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11

Wang, Xinfeng, Tomi Jun, Nan Sun, Jie He, and Kuan-lin Huang. "Abstract 5692: Tissue specificity of chromosome aneuploidy correlates with BRCA-associated cancer risk." Cancer Research 82, no. 12_Supplement (2022): 5692. http://dx.doi.org/10.1158/1538-7445.am2022-5692.

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Abstract Pathogenic germline variants of BRCA1 and BRCA2 disproportionally elevated the risk of specific cancer types (ex. breast [BRCA] and ovarian [OV] cancer) compared to tumors arising from other tissues. The reason underlying the strong tissue-specificity for BRCA-associated cancer risk remains largely unknown. Under the two-hit hypothesis, BRCA-mediated oncogenesis is thought to originate from a cell where the germline BRCA1/2 variant underwent loss of heterozygosity (LOH) of the wildtype BRCA allele, resulting in homologous recombination DNA repair deficiencies. Notably, tumor aneuploid

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12

Guo, Li yuan, Tiantian Han, Didi Guo, et al. "Retrospective analysis of non-BRCA gene pathogenicity variation in Chinese patients with ovarian cancer." Journal of Clinical Oncology 40, no. 16_suppl (2022): 10584. http://dx.doi.org/10.1200/jco.2022.40.16_suppl.10584.

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10584 Background: Ovarian cancer (OC) is the most lethal gynecologic cancer. Pathogenic (harmful) variants（PV) in BRCA1 and BRCA2 are the strongest hereditary risk factors for the development of ovarian cancer. To date, there is little information regarding the frequency of non- BRCA gene PV in Chinese women with OC that undergo genetic cancer risk assessment. In this study we analyzed wild-type BRCA1/2 OC patients (pts) registered in our database. Methods: Peripheral blood of 766 women, diagnosed with ovarian cancer, were taken from the recruited cases with the consent of performing germline

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13

Arpino, Grazia, Matilde Pensabene, Valeria Forestieri, et al. "Breast cancer prognosis in BRCA1/2 mutation carriers: A case control study." Journal of Clinical Oncology 30, no. 15_suppl (2012): 1554. http://dx.doi.org/10.1200/jco.2012.30.15_suppl.1554.

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1554 Background: We evaluated the clinical impact of germ-line BRCA1/2 mutations and variants of unknown clinical significance (VUS) for BRCA1/2 in patients (pts) with early breast cancer (BC). Methods: Twenty-eight BRCA-positive (BRCA+) BC pts with germ-line BRCA1 /2 mutations and 16 VUS BC pts were selected from our database and matched (1:3) with 154 nonhereditary BC controls (sporadic controls, SC, defined by no associated personal history of breast cancer and no family history of breast and ovarian cancer or an uninformative BRCA mutation test) for stage, histologic subtype, age, and year

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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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Atchley, Deann P., Constance T. Albarracin, Adriana Lopez, et al. "Clinical and Pathologic Characteristics of Patients With BRCA-Positive and BRCA-Negative Breast Cancer." Journal of Clinical Oncology 26, no. 26 (2008): 4282–88. http://dx.doi.org/10.1200/jco.2008.16.6231.

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Purpose Mutations in the BRCA1 and BRCA2 genes confer greater risk of developing breast cancer. We determined whether tumor pathologic features and clinical features differ in patients with and without BRCA mutations. Patients and Methods Tumor pathologic features and clinical characteristics were examined in 491 women with breast cancer who underwent genetic testing for BRCA mutations between 1997 and 2006. A retrospective review of medical records was conducted to determine clinical characteristics including ethnicity, age and clinical stage at diagnosis, age at parity, number of full-term p

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Antunes Meireles, Pedro, Sofia Fragoso, Teresa Duarte, et al. "Comparing Prognosis for BRCA1, BRCA2, and Non-BRCA Breast Cancer." Cancers 15, no. 23 (2023): 5699. http://dx.doi.org/10.3390/cancers15235699.

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Background: Germline pathogenic variants (PV) in BRCA1 and BRCA2 genes, which account for 20% of familial breast cancer (BC) cases, are highly penetrant and are associated with Hereditary Breast/Ovarian Cancer Syndrome. Previous studies, mostly including higher numbers of BRCA1 BC patients, yielded conflicting results regarding BRCA1/2 BC outcomes. In the Portuguese population, BRCA2 BC is diagnosed more frequently than BRCA1 BC. We aimed to compare clinicopathological characteristics and prognosis between BC patients with BRCA1 and BRCA2 mutations and a control group without germline PV (BRCA

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Osman, K., K. Ahmet, T. Hilmi, et al. "BRCA 1/BRCA 2 Pathogenic/Likely Pathogenic Variant Patients with Breast, Ovarian, and Other Cancers." Balkan Journal of Medical Genetics 25, no. 2 (2022): 5–14. http://dx.doi.org/10.2478/bjmg-2022-0023.

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ABSTRACT The demographic and clinical characteristics of patients who have BRCA 1/BRCA 2 pathogenic/likely pathogenic variants may differ from their relatives who had BRCA-related cancer. In this study, we aimed to demonstrate the clinical and demographic findings of patients who had BRCA-related cancer and to assess the differences comparing their relatives who had BRCA-related cancer with breast, genital tract, prostate, and pancreas cancers as well. The results of sequencing analysis of 200 cancer patients (190 women, 10 men) who have been directed to genetic counseling with an indication o

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Liu, Ying L., Julia Lindsay Boland, Karen Anne Cadoo, et al. "Response to immune checkpoint inhibition and survival in BRCA-associated recurrent ovarian cancer." Journal of Clinical Oncology 37, no. 15_suppl (2019): 2615. http://dx.doi.org/10.1200/jco.2019.37.15_suppl.2615.

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2615 Background: Alterations in the DNA mismatch repair pathway increase susceptibility to immune checkpoint inhibition (ICI). Tumors with BRCA-related DNA repair defects may have increased antigenicity, which could drive response to ICI. Responses to ICI in ovarian cancer (OC) have been modest. We seek to evaluate the association of BRCA mutations with response to ICI and survival in recurrent OC. Methods: A single-center, retrospective review identified 103 women with recurrent OC and known BRCA mutation status (90 germline and 33 somatic testing) who received ICI between 1/2013-7/2018 (98 o

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Castro, Elena, David Olmos, Chee Leng Goh, et al. "Effect of germ-line BRCA mutations in biochemical relapse and survival after treatment for localized prostate cancer." Journal of Clinical Oncology 31, no. 6_suppl (2013): 29. http://dx.doi.org/10.1200/jco.2013.31.6_suppl.29.

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29 Background: Biochemical relapse after local treatment for prostate cancer (PCa) indicates recurrent disease and is associated with shorter cause-specific survival (CSS). Germline BRCA mutations are associated with worse PrCa outcomes. In this study, we analyzed biochemical-progression free survival (bPFS) after conventional treatments for localized PCa in a cohort of BRCA patients from the UK. Currently, BRCA1/2 carriers are treated with the same protocols used for non-carriers. Methods: In this retrospective case-control study, each BRCA carrier (10 BRCA1 and 34 BRCA2) treated with radical

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Chen, Siche, and Heike Allgayer. "Epigenetically Downregulated Breast Cancer Gene 2 through Acetyltransferase Lysine Acetyltransferase 2B Increases the Sensitivity of Colorectal Cancer to Olaparib." Cancers 15, no. 23 (2023): 5580. http://dx.doi.org/10.3390/cancers15235580.

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Olaparib suppresses DNA damage repair by inhibiting the poly ADP ribose polymerase (PARP), especially in cancers with BRCA1/2 mutations or the BRCA-ness phenotype. However, the first trials showed that some patients with defective DNA damage repair are still resistant to olaparib. The recovery of the wildtype BRCA is a prominent mechanism of PARP inhibitor (PARPi) resistance in BRCA-deficient tumors, but additional molecular features of olaparib resistance remain poorly understood. The objective of our study was to find molecular parameters that contribute to olaparib response or resistance in

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Vidra, Radu, Tudor Eliade Ciuleanu, Adina Nemeș, et al. "Spectrum of BRCA1/2 Mutations in Romanian Breast and Ovarian Cancer Patients." International Journal of Environmental Research and Public Health 19, no. 7 (2022): 4314. http://dx.doi.org/10.3390/ijerph19074314.

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Background: About 10,000 women are diagnosed with breast cancer and about 2000 women are diagnosed with ovarian cancer each year in Romania. There is an insufficient number of genetic studies in the Romanian population to identify patients at high risk of inherited breast and ovarian cancer. Methods: We evaluated 250 women of Romanian ethnicity with BC and 240 women of Romanian ethnicity with ovarian cancer for the presence of damaging germline mutations in breast cancer genes 1 and 2 (BRCA1 and BRCA2, respectively) using Next-Generation Sequencing (NGS) technology. Results: Of the 250 breast

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Tayeb, Maliha, Caitlin Orr, Roukiatou Sore, et al. "Mammography results in male BRCA carriers." Journal of Clinical Oncology 43, no. 16_suppl (2025): 10618. https://doi.org/10.1200/jco.2025.43.16_suppl.10618.

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10618 Background: Patients assigned male at birth (AMAB) with pathogenic germline variants (PGVs) in BRCA1 or BRCA2 ( BRCA+ ) have a 1-10% lifetime risk of developing breast cancer (BC). NCCN guidelines currently recommend that male BRCA1/2 carriers consider annual mammograms. However, there is minimal data on the mammography among male BRCA1/2 carriers. Methods: We identified a cohort of 489 BRCA + male patients with male gender identity from the electronic health record (EHR) at Penn Medicine who had no prior BC diagnosis. Charts were reviewed to determine indication for and results of mammo

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Ozkan, Metin, Sedat Tarık Fırat, Ramazan Coşar, Oktay Bozkurt, Mevlude Inanc, and Muhammet Ensar Dogan. "Clinicopathological features of patients with ovarian and breast cancer with BRCA mutation." Journal of Clinical Oncology 38, no. 15_suppl (2020): e13524-e13524. http://dx.doi.org/10.1200/jco.2020.38.15_suppl.e13524.

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e13524 Background: Breast cancer is the most common cancer and the leading cause of cancer death in women. Ovarian cancer contributes significantly to mortality and morbidity rates. BRCA1 and BRCA2 are the best known genes associated with breast and ovarian cancer, which are important in DNA repair and transcriptional regulation. Methods: In this study, we retrospectively analyzed the clinicopathological features of breast and ovarian cancer patients who were found to have BRCA 1/2 mutations in Erciyes University Medical Oncology between 2009-2019. Results: BRCA mutation was detected in 14 pat

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Jung, J., E. Kang, J. M. Gwak, et al. "Association between basal-like phenotype and BRCA1/2 germline mutations in Korean breast cancer patients." Current Oncology 23, no. 5 (2016): 298. http://dx.doi.org/10.3747/co.23.3054.

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Introduction BRCA mutation testing allows index patients and their families to be provided with appropriate cancer risk-reduction strategies. Because of the low prevalence of BRCA mutations in unselected breast cancer patients and the high cost of genetic testing, it is important to identify the subset of women who are likely to carry BRCA mutations. In the present study, we examined the association between BRCA1/2 germline mutations and the immunohistochemical features of breast cancer.Methods In a retrospective review of 498 breast cancer patients who had undergone BRCA testing at Seoul Nati

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Zhu, Qianqian, Jie Wang, Han Yu, et al. "Whole-Genome Sequencing Identifies PPARGC1A as a Putative Modifier of Cancer Risk in BRCA1/2 Mutation Carriers." Cancers 14, no. 10 (2022): 2350. http://dx.doi.org/10.3390/cancers14102350.

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While BRCA1 and BRCA2 mutations are known to confer the largest risk of breast cancer and ovarian cancer, the incomplete penetrance of the mutations and the substantial variability in age at cancer onset among carriers suggest additional factors modifying the risk of cancer in BRCA1/2 mutation carriers. To identify genetic modifiers of BRCA1/2, we carried out a whole-genome sequencing study of 66 ovarian cancer patients that were enriched with BRCA carriers, followed by validation using data from the Pan-Cancer Analysis of Whole Genomes Consortium. We found PPARGC1A, a master regulator of mito

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Keung, Yi-Kong, Adriana Hu, Annie Yeung, Amy Chan, and Eddie Hu. "Higher prevalence of BRCA2 mutations among Chinese breast cancer patients in a community oncology clinic." Journal of Clinical Oncology 30, no. 15_suppl (2012): e12017-e12017. http://dx.doi.org/10.1200/jco.2012.30.15_suppl.e12017.

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e12017 Background: According to a large US population-based study, BRCA1 and 2 mutations occur in about 6 and 4% breast cancer cases age <45. Asians have the lowest prevalence of BRCA1 mutation among five US racial groups. The prevalence of BRCA1 and BRCA2 mutations was reported as 8.1% and 2.7% among pts with family history in Shanghai, compared to 4.9% and 7.5% respectively in Hong Kong. We would like to explore the BRCA mutations in a clinic located in an Asian-majority community in California. Methods: Consecutive female breast cancer pts selected for BRCA testing according to NCCN guid

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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

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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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Telli, Melinda L., Jennifer Keating Litton, Joseph Thaddeus Beck, et al. "Neoadjuvant talazoparib (TALA) in patients (pts) with germline BRCA1/2 (gBRCA1/2) mutation-positive, early HER2-negative breast cancer (BC): Exploration of tumor BRCA mutational status and zygosity and overall mutational landscape in a phase 2 study." Journal of Clinical Oncology 39, no. 15_suppl (2021): 554. http://dx.doi.org/10.1200/jco.2021.39.15_suppl.554.

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554 Background: TALA is a poly(ADP-ribose) polymerase inhibitor approved as monotherapy for adult pts with g BRCA1/2-mutated HER2-negative locally advanced/metastatic BC. We report biomarker analyses from a phase 2, nonrandomized, single-arm, open-label study (NEOTALA; NCT03499353) evaluating the efficacy and safety of TALA in the neoadjuvant setting for pts with early g BRCA1/2-mutated HER2− BC. Efficacy and safety results are presented separately. Methods: The biomarker analysis population was all pts treated with TALA for whom biomarker results are available. To support molecular eligibilit

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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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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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Ma, Fei, Lixi Li, Zongbi Yi, et al. "The prevalence of BRCA1/2 germline mutation in Chinese pan-cancer." Journal of Clinical Oncology 38, no. 15_suppl (2020): e13684-e13684. http://dx.doi.org/10.1200/jco.2020.38.15_suppl.e13684.

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e13684 Background: Pathogenic variants in cancer predisposition genes BRCA1/2 confer susceptibility to breast and ovarian cancer and well-studied. But the characteristics of BRCA in other cancers is unknown, we identified and characterized BRCA germline variants in a large pan-cancer in China. Methods: NGS was performed on genomic DNA from 29,676 pan-cancer patients. Large fragment deletions were all verified by QPCR. We integrated guidelines of ACMG/AMP, ENIGMA and China expert consensus. Based on the in-house system, variants were interpreted one-by-one and classified into 5 grades: Benign (

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Kwong, A., L. Wong, C. Wong, et al. "Clinical and pathological characteristics of Chinese patients with BRCA related breast cancer." Journal of Clinical Oncology 27, no. 15_suppl (2009): e22226-e22226. http://dx.doi.org/10.1200/jco.2009.27.15_suppl.e22226.

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e22226 Background: Breast cancers due to underlying germline BRCA1 and BRCA2 mutations are associated with particular pathological features that may differ from sporadic breast cancers. We report clinical and pathologic characteristics of breast cancer in a clinical cohort of high risk Chinese women with BRCA mutations and those without mutations. Methods: 202 high risk women based on their age and family history were recruited from March 2007 to November 2008. Medical information was prospectively collected from the patients and medical records. BRCA1 and BRCA2 mutations were detected using f

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Arun, Banu, Angelica Gutierrez Barrera, Rachel M. Layman, et al. "Outcome of patients with breast cancer and a germline BRCA mutation in a prospective cohort." Journal of Clinical Oncology 38, no. 15_suppl (2020): 1544. http://dx.doi.org/10.1200/jco.2020.38.15_suppl.1544.

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1544 Background: There are limited large prospective single institution studies on outcome of breast cancer in patients with germline BRCA1 and BRCA2 mutation. The primary aim of this study was to determine the effect of a germline BRCA1 or BRCA2 mutation on recurrence-free survival (RFS) and overall survival (OS) in patients with breast cancer. Methods: This is a prospective cohort study of patients with invasive breast cancer recruited from the UT MD Anderson Cancer Center Breast Medical Oncology and Clinical Cancer Genetics Center. For the purpose of this analysis, newly diagnosed breast ca

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Turan, Volkan, Matteo Lambertini, Dong-Yun Lee, et al. "Association of Germline BRCA Pathogenic Variants With Diminished Ovarian Reserve: A Meta-Analysis of Individual Patient-Level Data." Journal of Clinical Oncology 39, no. 18 (2021): 2016–24. http://dx.doi.org/10.1200/jco.20.02880.

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PURPOSE To determine whether germline BRCA (g BRCA) pathogenic variants are associated with decreased ovarian reserve. MATERIALS AND METHODS An individual patient-level data meta-analysis was performed using five data sets on 828 evaluable women who were tested for g BRCA. Of those, 250 carried g BRCA, whereas 578 had tested negative and served as controls. Of the women with g BRCA, four centers studied those affected with breast cancer (n = 161) and one studied unaffected individuals (n = 89). The data were adjusted for the center, age, body mass index, smoking, and oral contraceptive pill us

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Fumagalli, Caterina, Federica Tomao, Ilaria Betella, et al. "Tumor BRCA Test for Patients with Epithelial Ovarian Cancer: The Role of Molecular Pathology in the Era of PARP Inhibitor Therapy." Cancers 11, no. 11 (2019): 1641. http://dx.doi.org/10.3390/cancers11111641.

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The PARP inhibitor olaparib has been approved in the maintenance setting of platinum-sensitive epithelial ovarian cancer patients with germline or somatic BRCA1/2 mutation. Therefore, the availability of a tumor BRCA test has become a clinical need. We report the results of the clinical implementation of a tumor BRCA test within the frame of an institutional workflow for the management of patients with nonmucinous and nonborderline epithelial ovarian cancer. In total, 223 patients with epithelial ovarian cancer were prospectively analyzed. BRCA1/2 status was evaluated on formalin-fixed, paraff

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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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Safra, Tamar, Wei-Chu V. Lai, Tara Berman, et al. "BRCA mutations and outcome in epithelial ovarian cancer (EOC): Experience in ethnically diverse groups." Journal of Clinical Oncology 30, no. 15_suppl (2012): 5078. http://dx.doi.org/10.1200/jco.2012.30.15_suppl.5078.

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5078 Background: EOC patients with BRCA mutations have been reported to have better prognosis than non-hereditary (NH) matched cases, an advantage shown especially in the Ashkenazi-Jewish (AJ) population. We have analyzed our experience in our ethnically diverse patient cohort from NYC, Israel and Italy. Methods: A retrospective chart review of patients diagnosed with Stage IC-IV EOC between 1995-2008 at the NYU Cancer Institute, Tel Aviv Sourasky MC and Padova Clinical Cancer Centers. Out of >700 patients, 183 were tested for BRCA mutations and evaluated. Results: Median age was 55.5 (rang

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Madariaga, Ainhoa, Stephanie Lheureux, and Amit Oza. "Tailoring Ovarian Cancer Treatment: Implications of BRCA1/2 Mutations." Cancers 11, no. 3 (2019): 416. http://dx.doi.org/10.3390/cancers11030416.

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High grade serous ovarian cancer (HGSOC) is the most common epithelial ovarian cancer, harbouring more than 20% germline or somatic mutations in the tumour suppressor genes BRCA1 and BRCA2. These genes are involved in both DNA damage repair process via homologous recombination (HR) and transcriptional regulation. BRCA mutation confers distinct characteristics, including an increased response to DNA-damaging agents, such us platinum chemotherapy and poly-ADP ribose polymerase inhibitors (PARPi). However, several mechanisms of resistance to these agents have been described, including increased H

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Iyiola, S., A. Komolafe, A. Samuel, J. A. Onifade, I. Enweani, and A. Ngokere. "Evaluation of BRCA1 and BRCA2 Protein Dysfunction in Breast Cancer Cells among Women in Osun State, Southwest Nigeria." American Journal of Clinical Pathology 154, Supplement_1 (2020): S118—S119. http://dx.doi.org/10.1093/ajcp/aqaa161.259.

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Abstract Introduction/Objective Breast cancer among Nigeria women had been found to occur at a much younger age compared with their Caucasian age groups. BRCA1 and BRCA2 were suspected to responsible for breast cancers at a young age, therefore this work examined the BRCA1 and BRCA2 dysfunction among women suffering from breast cancer in Osun State, Nigeria. Methods This cross-sectional study was carried out at the Obafemi Awolowo University Teaching Hospitals Complex, Ile-Ife and Ladoke Akintola University Teaching Hospital, Osogbo, Nigeria. The request cards and tissue blocks were sorted fro

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Barbero, Giovanna, Roberta Zuntini, Pamela Magini, et al. "Characterization of BRCA Deficiency in Ovarian Cancer." Cancers 15, no. 5 (2023): 1530. http://dx.doi.org/10.3390/cancers15051530.

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BRCA testing is recommended in all Ovarian Cancer (OC) patients, but the optimal approach is debated. The landscape of BRCA alterations was explored in 30 consecutive OC patients: 6 (20.0%) carried germline pathogenic variants, 1 (3.3%) a somatic mutation of BRCA2, 2 (6.7%) unclassified germline variants in BRCA1, and 5 (16.7%) hypermethylation of the BRCA1 promoter. Overall, 12 patients (40.0%) showed BRCA deficit (BD), due to inactivation of both alleles of either BRCA1 or BRCA2, while 18 (60.0%) had undetected/unclear BRCA deficit (BU). Regarding sequence changes, analysis performed on Form

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Myers, Charles E., Rebecca Feldman, Brian L. Abbott, Sandeep K. Reddy, and Michael Castro. "Frequency of BRCA mutations and co-occurring alterations in prostate cancer." Journal of Clinical Oncology 34, no. 2_suppl (2016): 289. http://dx.doi.org/10.1200/jco.2016.34.2_suppl.289.

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289 Background: Evidence is building for the utility of PARP (oral poly (ADP-ribose) polymerase) inhibitors in BRCA-mutated patients, across solid tumors. We examined the presence of somatic BRCA mutations (detected in tumor), in a population of prostate cancer patients. Comparisons between BRCA-mutated and BRCA-wildtype patients were made to determine potential combination strategies. Methods: 85 advanced prostate cancer patients were included in the study and tested centrally at a CLIA laboratory (Caris Life Sciences, Phoenix, AZ). Tests included one or more of the following: gene sequencing

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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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Daniel, Sugganth, Erica Gornstein, Garrett Michael Frampton, et al. "BRCA1/2 reversion mutations in prostate cancer identified from clinical tissue and liquid biopsy samples." Journal of Clinical Oncology 35, no. 15_suppl (2017): 5024. http://dx.doi.org/10.1200/jco.2017.35.15_suppl.5024.

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5024 Background: Prostate tumors with genomic alterations (GA) in BRCA1 or BRCA2 ( BRCA) may be sensitive to treatment with PARP inhibitors (PARPi). However, secondary reversion mutations (revGA) can arise that may restore BRCA function and underlie reduced sensitivity to PARPi or platinum (Pt)-based therapy. Comprehensive genomic profiling (CGP), using either tissue or liquid biopsies, can detect the variety of clinically relevant revGA that can arise. Methods: DNA extracted from FFPE tumor tissue or blood samples obtained during routine clinical care for 1911 patients with predominantly rela

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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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Gupta, Parul, Tamanna Thakur, Anjali Chadda, Santosh Irinike, Siddhant Khare, and Amanjit Bal. "A Pilot Study on BRCA1/2 and PI3K Mutations Across Subtypes of Triple Negative Breast Cancer in North Indian Population." Applied Immunohistochemistry & Molecular Morphology 32, no. 10 (2024): 462–68. http://dx.doi.org/10.1097/pai.0000000000001231.

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BRCA1/2 are tumor suppressor genes which regulate the DNA repair mechanism. Mutations in BRCA1/2 may increase the risk of breast cancer in patients. In the present study frequency of BRCA1/2 mutations in triple negative breast cancer (TNBC) patients was assessed and correlated with molecular subtypes of TNBC. Blood samples from 65 confirmed cases of TNBC were collected. DNA was isolated from whole blood and libraries were prepared using a BRCA1/2 custom panel. Sequencing was done on Ion torrent S5 sequencer and ion reporter was used for data analysis. Further molecular subtyping of mutation po

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Valsecchi, Anna Amela, Rossana Dionisio, Olimpia Panepinto, et al. "Frequency of Germline and Somatic BRCA1 and BRCA2 Mutations in Prostate Cancer: An Updated Systematic Review and Meta-Analysis." Cancers 15, no. 9 (2023): 2435. http://dx.doi.org/10.3390/cancers15092435.

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In prostate cancer (PC), the presence of BRCA somatic and/or germline mutation provides prognostic and predictive information. Meta-analysis aims to estimate the frequency of BRCA mutations in patients with PC (PCp). In November 2022, we reviewed literature searching for all articles testing the proportion of BRCA mutations in PCp, without explicit enrichment for familiar risk. The frequency of germline and somatic BRCA1 and/or BRCA2 mutations was described in three stage disease populations (any/metastatic/metastatic castration-resistant PC, mCRPC). Out of 2253 identified articles, 40 were el

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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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Wesolowski, R., A. G. Shealy, J. Tao, and H. C. Moore. "Differential outcomes in patients treated with endocrine therapy for early or locally advanced breast cancer based on BRCA mutation status." Journal of Clinical Oncology 27, no. 15_suppl (2009): e22065-e22065. http://dx.doi.org/10.1200/jco.2009.27.15_suppl.e22065.

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e22065 Background: Mutations in BRCA1 and BRCA2 genes lead to defects in DNA repair. Estrogen receptor modulates transcription of genes responsible for cell division, which depends on cell's ability to repair DNA for genomic integrity. Differential efficacy of endocrine therapy for breast cancer, therefore, may be possible depending on the tumor's BRCA mutation status. Methods: Through an IRB approved registry, breast cancer patients tested for BRCA1 and BRCA2 mutations and treated with endocrine therapy for hormone-receptor positive non-metastatic disease were identified. Primary and secondar

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Wesolowski, R., T. K. Choueiri, L. Rybicki, et al. "BRCA mutation status and risk of secondary malignancy following chemotherapy for breast cancer." Journal of Clinical Oncology 25, no. 18_suppl (2007): 11017. http://dx.doi.org/10.1200/jco.2007.25.18_suppl.11017.

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11017 Background: Since the BRCA gene is responsible for excisional DNA repair, we hypothesized that breast cancer patients with BRCA mutation would be more susceptible to the induction of second malignancies following chemotherapy treatment than breast cancer patients who tested negative for BRCA mutations. Methods: Breast cancer patients tested for BRCA1 and BRCA2 mutations at the Cleveland Clinic were identified and evaluated for history of neoadjuvant or adjuvant chemotherapy and for the occurrence of subsequent non-breast primary invasive cancer. Patients with inadequate follow-up and tho

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