BRCA1, BRCA1 DNA repair associated, 672

N. diseases: 747; N. variants: 2600
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0677886
Disease: Epithelial ovarian cancer
Epithelial ovarian cancer
0.100 GeneticVariation disease BEFREE Additionally, olaparib has been reported to augment the effects of cisplatin and carboplatin on recurrence-free survival and OS in mice bearing BRCA1/2-deficient tumors.Given that hereditary EOC with deleterious BRCA1/2 mutations and BRCAness sporadic EOC are profoundly susceptible to synthetic lethality with PARP inhibition, it is imperative to identify a population of EOC patients that is likely to respond to PARP inhibitors. 22759740 2012
CUI: C0677886
Disease: Epithelial ovarian cancer
Epithelial ovarian cancer
0.100 GeneticVariation disease BEFREE A decision model was developed to compare costs and outcomes of two testing strategies for women with EOC: multigene testing (MGT) versus single-gene testing for BRCA1/2. 28045615 2017
CUI: C0677886
Disease: Epithelial ovarian cancer
Epithelial ovarian cancer
0.100 GeneticVariation disease BEFREE BRCA1 and BRCA2 mutation testing was carried out on index cases from 119 families with site-specific epithelial ovarian cancer or breast-ovarian cancer. 10029077 1999
CUI: C0677886
Disease: Epithelial ovarian cancer
Epithelial ovarian cancer
0.100 GeneticVariation disease BEFREE Mutations were most frequent in BRCA1 and BRCA2, with 84 EOC cases (3.8%) carrying a BRCA1 mutation and 94 EOC cases (4.2%) carrying a BRCA2 mutation. 24728189 2014
CUI: C0677886
Disease: Epithelial ovarian cancer
Epithelial ovarian cancer
0.100 GeneticVariation disease BEFREE All patients diagnosed in Scotland with epithelial ovarian cancer (EOC) or primary peritoneal cancer (PPC) and a germline BRCA1/2 mutation were identified. 20406939 2010
CUI: C0677886
Disease: Epithelial ovarian cancer
Epithelial ovarian cancer
0.100 GeneticVariation disease BEFREE Prevalence of germline pathogenic <i>BRCA1/2</i> variants in sequential epithelial ovarian cancer cases. 30683677 2019
CUI: C0677886
Disease: Epithelial ovarian cancer
Epithelial ovarian cancer
0.100 GeneticVariation disease BEFREE Owing to the rapid increase in clinical need, we aimed to implement and review the performance of a mainstreaming model of germline BRCA1/2 genetic testing in eligible women with high grade non-mucinous epithelial ovarian cancer via a Genetic Counselor embedded in the gynecology oncology clinic. 28162234 2017
CUI: C0677886
Disease: Epithelial ovarian cancer
Epithelial ovarian cancer
0.100 GeneticVariation disease BEFREE From October 2008 to February 2015, we established a hospital-based cohort of ovarian cancer patients and the germline status of all 218 women with invasive epithelial ovarian cancer was tested using targeted amplification and sequencing of the intron-exon junctions and exonic sequences of BRCA1, BRCA2, PALB2 and TP53. 26541979 2016
CUI: C0677886
Disease: Epithelial ovarian cancer
Epithelial ovarian cancer
0.100 GeneticVariation disease BEFREE Polymorphisms in BRCA1 and BRCA2 and risk of epithelial ovarian cancer. 14555511 2003
CUI: C0677886
Disease: Epithelial ovarian cancer
Epithelial ovarian cancer
0.100 GeneticVariation disease BEFREE BRCA1/2 mutations and expression: response to platinum chemotherapy in patients with advanced stage epithelial ovarian cancer. 22406760 2012
CUI: C0677886
Disease: Epithelial ovarian cancer
Epithelial ovarian cancer
0.100 GeneticVariation disease BEFREE Areas covered: This review focuses on the rationale for olaparib therapy in the context of relapsed epithelial ovarian cancer associated with a BRCA1 or BRCA2 mutation and summarizes the existing efficacy and safety data in this context. 30092674 2018
CUI: C0677886
Disease: Epithelial ovarian cancer
Epithelial ovarian cancer
0.100 GeneticVariation disease BEFREE Exon 11 BRCA1-mutated EOC patients showed distinct clinico-pathological features but similar clinical outcome with respect to sporadic EOC patients. 27297669 2016
CUI: C0677886
Disease: Epithelial ovarian cancer
Epithelial ovarian cancer
0.100 GeneticVariation disease BEFREE Mutations in BRCA1 and BRCA2 account for hereditary breast and ovarian cancer syndrome in a majority of families and 14% of epithelial ovarian cancer cases. 28254144 2017
CUI: C0677886
Disease: Epithelial ovarian cancer
Epithelial ovarian cancer
0.100 GeneticVariation disease BEFREE A pooled analysis of 26 observational studies on the survival of women with ovarian cancer, which included data from 1213 EOC cases with pathogenic germline mutations in BRCA1 (n = 909) or BRCA2 (n = 304) and from 2666 noncarriers recruited and followed up at variable times between 1987 and 2010 (the median year of diagnosis was 1998). 22274685 2012
CUI: C0677886
Disease: Epithelial ovarian cancer
Epithelial ovarian cancer
0.100 GeneticVariation disease BEFREE WBC DNA methylation was analysed by bisulphite pyrosequencing at ataxia telangiectasia mutated (ATM), estrogen receptor 1 (ESR1), progesterone receptor (PGR), mutL homologue 1 (MLH1), breast cancer susceptibility gene (BRCA1), secreted frizzled-related protein 1 (SFRP1), stratifin (SFN), retinoic acid receptor beta (RARB) loci and the repetitive element LINE1 in 880 SCOTROC1 trial patients [paclitaxel (Taxol)-carboplatin versus docetaxel (Taxotere)-carboplatin as primary chemotherapy for stage Ic-IV epithelial ovarian cancer]. 24114859 2013
CUI: C0677886
Disease: Epithelial ovarian cancer
Epithelial ovarian cancer
0.100 GeneticVariation disease BEFREE We reviewed clinical and pathological data on patients with primary epithelial ovarian cancer found to have germ-line mutations of BRCA1. 8875917 1996
CUI: C0677886
Disease: Epithelial ovarian cancer
Epithelial ovarian cancer
0.100 GeneticVariation disease BEFREE No association was detected between EOC risk and BRCA1 Q356R, BRCA1 P871L, RAD51 g135c, RAD51 g172t, RAD52 c2259t, NBS1 L34L, NBS1 E185Q, NBS1 A399A, NBS1 P672P, XRCC2 g4324c, XRCC2 c41657t and XRCC3 T241M. 15924337 2005
CUI: C0677886
Disease: Epithelial ovarian cancer
Epithelial ovarian cancer
0.100 GeneticVariation disease BEFREE No evidence of association was observed between genotype and risk of unselected EOC (OR = 1.02, 95% CI: 0.95-1.10), serous EOC (OR = 1.08, 95% CI: 0.98-1.18), familial EOC (OR = 1.09, 95% CI: 0.78-1.54), or among women carrying deleterious mutations in BRCA1 (OR = 1.09, 95% CI: 0.88-1.36). 21385923 2011
CUI: C0677886
Disease: Epithelial ovarian cancer
Epithelial ovarian cancer
0.100 GeneticVariation disease BEFREE Epithelial ovarian cancer is composed of distinct histological subtypes with unique genomic characteristics, which are improving the precision and effectiveness of therapy, allowing discovery of predictors of response such as mutations in breast cancer susceptibility genes BRCA1 and BRCA2, and homologous recombination deficiency for DNA damage response pathway inhibitors or resistance (cyclin E1). 30910306 2019
CUI: C0677886
Disease: Epithelial ovarian cancer
Epithelial ovarian cancer
0.100 GeneticVariation disease BEFREE "BRCAness" syndrome in ovarian cancer: a case-control study describing the clinical features and outcome of patients with epithelial ovarian cancer associated with BRCA1 and BRCA2 mutations. 18955455 2008
CUI: C0677886
Disease: Epithelial ovarian cancer
Epithelial ovarian cancer
0.100 GeneticVariation disease BEFREE N-terminal BRCA1 mutations in EOC patients are associated with favourable primary progression-free survival, a trend observed only in primary progression-free survival, not in overall survival. 30504414 2018
CUI: C0677886
Disease: Epithelial ovarian cancer
Epithelial ovarian cancer
0.100 GeneticVariation disease BEFREE We performed a multicenter cohort study including 916 unselected consecutive epithelial ovarian cancer (EOC) patients from eastern China to screen for BRCA1/2 mutations using the next-generation sequencing approach. 28176296 2017
CUI: C0677886
Disease: Epithelial ovarian cancer
Epithelial ovarian cancer
0.100 GeneticVariation disease BEFREE BRCA1 and BRCA2 mutations were estimated to account for about 24% of the EOC FRR to first-degree relatives. 24277755 2014
CUI: C0677886
Disease: Epithelial ovarian cancer
Epithelial ovarian cancer
0.100 GeneticVariation disease BEFREE The clinicopathological parameters of 36 EOC patients carrying germline BRCA1/2 DM were compared to high-grade serous EOC women of the COEUR cohort with known germline BRCA1/BRCA2 mutation carrier status (n = 376 non-carriers, n = 65 BRCA1 and n = 38 BRCA2). 31753525 2020
CUI: C0677886
Disease: Epithelial ovarian cancer
Epithelial ovarian cancer
0.100 GeneticVariation disease BEFREE Germline sequence and large rearrangements for BRCA1/2 were tested in 398 consecutive epithelial ovarian cancer (EOC) patients. 30103829 2018