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 AlteredExpression disease BEFREE We searched and evaluated all primary literature on the use of IHC for evaluating BRCA1 and BRCA2 proteins expression in EOC. 31719105 2020
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 These genes are associated with an estimated lifetime risk of EOC of 13% to 60% for BRCA1 variants and 10% to 25% for BRCA2 variants, with lower risks associated with remaining genes. 31099061 2020
CUI: C0677886
Disease: Epithelial ovarian cancer
Epithelial ovarian cancer
0.100 Biomarker disease BEFREE Tumor BRCA1/2 testing was performed for 315 (77.6%) of the 406 eligible OC samples, of which 305 (96.8%) were successful. 31076742 2020
CUI: C0677886
Disease: Epithelial ovarian cancer
Epithelial ovarian cancer
0.100 Biomarker disease BEFREE Mutational Screening of BRCA1/2 Genes as a Predictive Factor for Therapeutic Response in Epithelial Ovarian Cancer: A Consensus Guide from the Spanish Society of Pathology (SEAP-IAP) and the Spanish Society of Human Genetics (AEGH). 31797087 2020
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 Biomarker disease BEFREE The aim of this study was to estimate the efficiency of providing germline BRCA1/2 testing to high-grade epithelial ovarian cancer (HGEOC) patients without family history of OC or BC and the subsequent testing and management of their relatives with gBRCA1/2m in Spain. 30617925 2019
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 Fifteen-year survival of invasive epithelial ovarian cancer in women with BRCA1/2 mutations - the National Israeli Study of Ovarian Cancer. 30872026 2019
CUI: C0677886
Disease: Epithelial ovarian cancer
Epithelial ovarian cancer
0.100 GeneticVariation disease BEFREE A noteworthy example is treatment of TNBC and epithelial ovarian cancer harboring BRCA1/2 germline mutations using platinum salts and/or PARP inhibitors. 30661659 2019
CUI: C0677886
Disease: Epithelial ovarian cancer
Epithelial ovarian cancer
0.100 GeneticVariation disease BEFREE Factors that predicted for BRCA1/2 mutations were: breast and ovarian cancers in the same patient (p = 0.031), young age of EOC (p = 0.029), menstrual status (p = 0.004) and family history of cancer (p < 0.0001). 30651582 2019
CUI: C0677886
Disease: Epithelial ovarian cancer
Epithelial ovarian cancer
0.100 GeneticVariation disease BEFREE Prevalence, spectrum, and founder effect of BRCA1 and BRCA2 mutations in epithelial ovarian cancer from the Middle East. 30825404 2019
CUI: C0677886
Disease: Epithelial ovarian cancer
Epithelial ovarian cancer
0.100 Biomarker disease BEFREE Currently, somatic or germinal mutations on BRCA1 and BRCA2 genes are the most important biomarkers in epithelial ovarian cancer having prognostic and predictive value. 28815456 2018
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 AlteredExpression disease BEFREE qPCR was used to investigate telomerase splice variants, MCPH1/BRIT1 and BRCA1 expression in EOC tissue and primary cultures. 29860064 2018
CUI: C0677886
Disease: Epithelial ovarian cancer
Epithelial ovarian cancer
0.100 AlteredExpression disease BEFREE The cancer tissue specimens were divided into the chemotherapy resistance group and sensitivity group through the <i>in vitro</i> resin droplet experiment to analyze the association of the expression of HMGB1, BRCA1 and P62 in epithelial ovarian cancer with chemotherapy resistance of patients. 29844838 2018
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 Germline sequence and large rearrangements for BRCA1/2 were tested in 398 consecutive epithelial ovarian cancer (EOC) patients. 30103829 2018
CUI: C0677886
Disease: Epithelial ovarian cancer
Epithelial ovarian cancer
0.100 GeneticVariation disease BEFREE The study aimed to estimate risks of invasive BC and EOC in a large cohort of BRCA1/BRCA2 predictive test negatives. 29565421 2018
CUI: C0677886
Disease: Epithelial ovarian cancer
Epithelial ovarian cancer
0.100 GeneticVariation disease BEFREE Approximately 10-15% of patients with EOC harbor a genetic predisposition due to mutations in BRCA1/2 genes. 29856239 2018
CUI: C0677886
Disease: Epithelial ovarian cancer
Epithelial ovarian cancer
0.100 GeneticVariation disease BEFREE Germline BRCA1 or BRCA2 mutations (mtBRCA1 and mtBRCA2) increase risk for high-grade serous ovarian cancer (HGSOC), the most commonly diagnosed epithelial ovarian cancer histotype. 29852322 2018
CUI: C0677886
Disease: Epithelial ovarian cancer
Epithelial ovarian cancer
0.100 GeneticVariation disease BEFREE Detection of Germline Mutations in Patients with Epithelial Ovarian Cancer Using Multi-gene Panels: Beyond BRCA1/2. 29020732 2018
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 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 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