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: C0919267
Disease: ovarian neoplasm
ovarian neoplasm
0.700 Biomarker disease BEFREE Universal tumor DNA BRCA1/2 testing of ovarian cancer: prescreening PARPi treatment and genetic predisposition. 31076742 2020
CUI: C0919267
Disease: ovarian neoplasm
ovarian neoplasm
0.700 Biomarker disease BEFREE Comprehensive Profiling of BRCA1 and BRCA2 Variants in Breast and Ovarian Cancer in Chinese Patients. 31825140 2020
CUI: C0919267
Disease: ovarian neoplasm
ovarian neoplasm
0.700 GeneticVariation disease BEFREE In the present study, 21 BRCA1 and BRCA2 pathogenic variants were detected in 30 patients and BRCA1/2 mutations were significantly associated with a family history of breast/ovarian cancer. 31706072 2020
CUI: C0919267
Disease: ovarian neoplasm
ovarian neoplasm
0.700 Biomarker disease BEFREE Germline mutations (eg, BRCA1/2) have prognostic and treatment implications for ovarian cancer (OVCA) patients. 31600840 2020
CUI: C0919267
Disease: ovarian neoplasm
ovarian neoplasm
0.700 GeneticVariation disease BEFREE Analyses performed under logistic model, linear mixed model, and model incorporating correlations identified nine significant associations with three gynecologic diseases including four novel findings (rs79219469:C > T, LINC02183, P = 3.3 × 10<sup>-8</sup> and rs567534295:C > T, BRCA1, P = 3.1 × 10<sup>-8</sup> with OC, rs150806792:C > T, INS-IGF2, P = 4.9 × 10<sup>-8</sup> and rs140991990:A > G, SOX9, P = 3.3 × 10<sup>-8</sup> with UCC). 31488892 2020
CUI: C0919267
Disease: ovarian neoplasm
ovarian neoplasm
0.700 GeneticVariation disease BEFREE A simultaneous detection of germline and somatic mutations in ovarian cancer (OC) using tumor materials is considered to be cost-effective for <i>BRCA1/2</i> testing. 31788999 2020
CUI: C0919267
Disease: ovarian neoplasm
ovarian neoplasm
0.700 GeneticVariation disease BEFREE Olaparib as maintenance therapy in patients with BRCA 1-2 mutated recurrent platinum sensitive ovarian cancer: Real world data and post progression outcome. 31699415 2020
CUI: C0919267
Disease: ovarian neoplasm
ovarian neoplasm
0.700 Biomarker disease BEFREE BRCA1-driven OCs demonstrate the plasticity of BRCA1 status during the treatment course. 31693165 2020
CUI: C0919267
Disease: ovarian neoplasm
ovarian neoplasm
0.700 Biomarker disease BEFREE Immunohistochemistry for the detection of BRCA1 and BRCA2 proteins in patients with ovarian cancer: a systematic review. 31719105 2020
CUI: C0919267
Disease: ovarian neoplasm
ovarian neoplasm
0.700 GeneticVariation disease BEFREE In adjusted analysis, age ≥80 years (odds ratio [OR] 0.10; P = 0.002), psychiatric disorders (OR 0.46; P = 0.006), occupation requiring at least 3 years of university or college education (OR 2.03; P = 0.003), and breast cancer or ovarian cancer in first-degree or second-degree relatives (OR 1.66; P = 0.02) were independently associated with uptake of BRCA1/2 testing. 29875420 2019
CUI: C0919267
Disease: ovarian neoplasm
ovarian neoplasm
0.700 AlteredExpression disease BEFREE Patients with BC and OC and brain metastases have a frequent loss of BRCA1 expression. 30822630 2019
CUI: C0919267
Disease: ovarian neoplasm
ovarian neoplasm
0.700 GeneticVariation disease BEFREE BRCA1/2 mutations were significantly associated with family history of breast/ovarian cancer (p<0.001), serous histology (p=0.044), and advanced International Federation of Gynecology and Obstetrics (FIGO) stage (III/IV, p=0.018) but not with early age-of-onset (age < 50, p=0.729). 30309222 2019
CUI: C0919267
Disease: ovarian neoplasm
ovarian neoplasm
0.700 GeneticVariation disease BEFREE A comparison of ovarian cancer mortality in women with BRCA1 mutations undergoing annual ultrasound screening or preventive oophorectomy. 31500890 2019
CUI: C0919267
Disease: ovarian neoplasm
ovarian neoplasm
0.700 GeneticVariation disease BEFREE Surveillance of patients with mutations in BRCA 1/2 is done by yearly mammography and breast MRI and by transvaginal ultrasonography and serum CA-125 levels every 6-12 months for ovarian cancer. 30358186 2019
CUI: C0919267
Disease: ovarian neoplasm
ovarian neoplasm
0.700 GeneticVariation disease BEFREE Worry about ovarian cancer risk predicted use of preventative pBSO among high-risk women including those with BRCA1/2 mutations enrolled in an ovarian cancer-screening program. 30431292 2019
CUI: C0919267
Disease: ovarian neoplasm
ovarian neoplasm
0.700 Biomarker disease BEFREE The study includes 1246 individuals assessed for BRCA1/2 genetic testing in Navarra, during 2000-2016, and a cohort of BC (n = 4384) and OC (n = 561) from the population-based Navarra Cancer Registry. 31771539 2019
CUI: C0919267
Disease: ovarian neoplasm
ovarian neoplasm
0.700 GeneticVariation disease BEFREE Germline mutations occurring in the highly penetrant genes BRCA1 and BRCA2 are responsible for only certain cases of familial breast cancer (BC) and ovarian cancer (OC). 30733081 2019
CUI: C0919267
Disease: ovarian neoplasm
ovarian neoplasm
0.700 GeneticVariation disease BEFREE The combined analyses revealed that deleterious germline variants in established OC predisposition genes (all: 125/473, 26.4%; <i>BRCA1/2</i>: 97/473, 20.5%), deleterious somatic variants in established OC predisposition genes excluding <i>TP53</i> (all: 39/473, 8.2%; <i>BRCA1/2</i>: 30/473, 6.3%) and promoter methylation (all: 67/473, 14.2%; <i>BRCA1</i>: 57/473, 12.1%; <i>RAD51C</i>: 10/473, 2.1%; <i>PALB2</i>: 0/473) were mutually exclusive, with a few exceptions. 30979843 2019
CUI: C0919267
Disease: ovarian neoplasm
ovarian neoplasm
0.700 GeneticVariation disease BEFREE Women with a BRCA1 or BRCA2 mutation face high risks of breast and ovarian cancer. 30971774 2019
CUI: C0919267
Disease: ovarian neoplasm
ovarian neoplasm
0.700 GeneticVariation disease BEFREE Deleterious mutations in BRCA1 or BRCA2 genes increase a woman's lifetime risk of breast and ovarian cancer. 29863445 2019
CUI: C0919267
Disease: ovarian neoplasm
ovarian neoplasm
0.700 AlteredExpression disease BEFREE This study was designed to determine the frequency of three single nucleotide polymorphisms (SNPs) variants in BRCA1 gene and BRCA1 expression in Saudi females with ovarian cancer. 30820179 2019
CUI: C0919267
Disease: ovarian neoplasm
ovarian neoplasm
0.700 GeneticVariation disease BEFREE Cancer-related distress in unselected women with newly diagnosed breast or ovarian cancer undergoing BRCA1/2 testing without pretest genetic counseling. 30334464 2019
CUI: C0919267
Disease: ovarian neoplasm
ovarian neoplasm
0.700 Biomarker disease BEFREE Significant associations with OC were observed in <i>BRCA1, BRCA2, RAD51C</i> and <i>RAD51D.</i> Other homologous recombination genes, <i>BARD1, NBN,</i> and <i>PALB2,</i> were not significantly associated with OC. 31341520 2019
CUI: C0919267
Disease: ovarian neoplasm
ovarian neoplasm
0.700 GeneticVariation disease BEFREE The SOLO1 trial randomized women with <i>BRCA1/2</i>-mutated advanced ovarian cancer to olaparib or placebo maintenance after first-line chemotherapy. 31037967 2019
CUI: C0919267
Disease: ovarian neoplasm
ovarian neoplasm
0.700 Biomarker disease BEFREE Inherited mutations in the breast cancer susceptibility genes <i>BRCA1</i> and <i>BRCA2</i> (<i>BRCA1/2</i>) confer high risks of breast and ovarian cancer. 30541753 2019