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: C0278488
Disease: Carcinoma breast stage IV
Carcinoma breast stage IV
0.100 GeneticVariation disease BEFREE The poly-(ADP-ribose) polymerase (PARP) inhibitors olaparib and talazoparib, have recently been approved for use in patients with metastatic breast cancer (BC) and germline BRCA 1 or 2 mutations due to improved progression-free survival compared to chemotherapy. 31823331 2020
CUI: C0278488
Disease: Carcinoma breast stage IV
Carcinoma breast stage IV
0.100 GeneticVariation disease BEFREE Recently, the PARP inhibitors olaparib and rucaparib were FDA approved for the treatment of metastatic breast cancer and recurrent ovarian cancer patients with mutations in BRCA1/2. 31575654 2020
CUI: C0278488
Disease: Carcinoma breast stage IV
Carcinoma breast stage IV
0.100 GeneticVariation disease BEFREE We sequenced cfDNA of a hormone receptor-positive, HER2-negative metastatic breast cancer (MBC) cohort with a high coverage to examine the prevalence and relevance of any detected variant. cfDNA of 44 MBC patients was isolated, followed by library construction using a customized targeted DNA panel with integrated unique molecular indices analyzing AKT1, AR, BRCA1, BRCA2, EGFR, ERCC4, ERBB2, ERBB3, ESR1, FGFR1, KRAS, MUC16, PIK3CA, PIK3R1, PTEN, PTGFR, and TGFB1. 31254045 2020
CUI: C0278488
Disease: Carcinoma breast stage IV
Carcinoma breast stage IV
0.100 GeneticVariation disease BEFREE Clinical Outcomes, Treatment Patterns, and Health Resource Utilization Among Metastatic Breast Cancer Patients with Germline BRCA1/2 Mutation: A Real-World Retrospective Study. 30656571 2019
CUI: C0278488
Disease: Carcinoma breast stage IV
Carcinoma breast stage IV
0.100 GeneticVariation disease BEFREE As no patients with BRCA1/2+ mutation died of metastatic breast cancer or recurrence during follow-up and review, overall survival could not be evaluated. 30973374 2019
CUI: C0278488
Disease: Carcinoma breast stage IV
Carcinoma breast stage IV
0.100 GeneticVariation disease BEFREE In the OlympiAD study, olaparib was shown to improve progression-free survival compared with chemotherapy treatment of physician's choice (TPC) in patients with a germline BRCA1 and/or BRCA2 mutation (BRCAm) and human epidermal growth factor receptor 2 (HER2)-negative metastatic breast cancer (mBC). 30689707 2019
CUI: C0278488
Disease: Carcinoma breast stage IV
Carcinoma breast stage IV
0.100 GeneticVariation disease BEFREE <b>Conclusion:</b><i>BRCA1/2</i> mutation profiling to target olaparib use is not a cost-effective strategy for metastatic breast cancer. 31692405 2019
CUI: C0278488
Disease: Carcinoma breast stage IV
Carcinoma breast stage IV
0.100 GeneticVariation disease BEFREE Sensitivity to endocrine therapy of patients with estrogen receptor (ER)-positive metastatic breast cancer and germline <i>BRCA1/2</i> mutations is not yet fully elucidated. 31456944 2019
CUI: C0278488
Disease: Carcinoma breast stage IV
Carcinoma breast stage IV
0.100 GeneticVariation disease BEFREE Poly(ADP-ribose) polymerase (PARP) inhibitors were recently approved for the treatment of patients with BRCA1 or BRCA2 germline pathogenic variants and metastatic breast cancer. 30789866 2019
CUI: C0278488
Disease: Carcinoma breast stage IV
Carcinoma breast stage IV
0.100 GeneticVariation disease BEFREE Eligible patients ≥18 years with locally recurrent or metastatic breast cancer and a deleterious BRCA1/2 germline mutation were randomized 1 : 1 : 1 to VCP, VT, or placebo plus carboplatin/paclitaxel (PCP). 29045554 2018
CUI: C0278488
Disease: Carcinoma breast stage IV
Carcinoma breast stage IV
0.100 GeneticVariation disease BEFREE We summarize the clinical development of PARPi in breast cancer from bench to bedside, and discuss the results of recent phase 3 trials in patients with metastatic breast cancer (MBC) and germline mutations in BRCA1/2 (gBRCAm). 29884921 2018
CUI: C0278488
Disease: Carcinoma breast stage IV
Carcinoma breast stage IV
0.100 Biomarker disease BEFREE Current randomized phase three trials of PARPi in metastatic breast cancer are limited to patients with documented BRCA1/2 mutations and no biomarker of PARPi beyond BRCA status is available. 28316110 2017
CUI: C0278488
Disease: Carcinoma breast stage IV
Carcinoma breast stage IV
0.100 GeneticVariation disease BEFREE Several clinical studies have investigated single agent therapy or combinations of both drugs, but no randomized clinical evidence exists for the superiority of carboplatin-olaparib versus standard of care therapy in patients with BRCA1- or BRCA2--mutated metastatic breast cancer. 27323902 2016
CUI: C0278488
Disease: Carcinoma breast stage IV
Carcinoma breast stage IV
0.100 GeneticVariation disease BEFREE Forty BRCA1/2 germline mutation carriers with MBC were included. 24692579 2014
CUI: C0278488
Disease: Carcinoma breast stage IV
Carcinoma breast stage IV
0.100 AlteredExpression disease BEFREE A variant in the 3'UTR of BRCA1 is functional, leading to decreased BRCA1 expression, modest increased breast cancer risk, and most importantly, presentation with stage IV breast cancer, likely due to aggressive tumor biology. 24915755 2014
CUI: C0278488
Disease: Carcinoma breast stage IV
Carcinoma breast stage IV
0.100 GeneticVariation disease BEFREE Of 195 women with MBC, 21 % (n = 41) were positive for BRCA1/2 mutations. 23370825 2013
CUI: C0278488
Disease: Carcinoma breast stage IV
Carcinoma breast stage IV
0.100 GeneticVariation disease BEFREE In a phase II, open-label study, 20 patients with metastatic breast cancer who carried a mutation in BRCA1 were treated with cisplatin 75 mg/m2 intravenously every 3 weeks as part of a 21-day cycle for 6 cycles. 22817698 2012
CUI: C0278488
Disease: Carcinoma breast stage IV
Carcinoma breast stage IV
0.100 Biomarker disease BEFREE Response rates (RRs) to and progression-free survival (PFS) after taxane chemotherapy of 35 BRCA1-associated and 13 BRCA2-associated metastatic breast cancer patients were compared with those outcomes in 95 matched (1:2) sporadic patients. 21761396 2012
CUI: C0278488
Disease: Carcinoma breast stage IV
Carcinoma breast stage IV
0.100 Biomarker disease BEFREE For BRCA1-associated patients, a nonsignificant trend for an increased OR (66% v 50%; P = .07), and a longer PFS (HR(mult), 0.79; P = .14) after first-line chemotherapy for metastatic breast cancer was observed, but not for OS. 19564533 2009
CUI: C0278488
Disease: Carcinoma breast stage IV
Carcinoma breast stage IV
0.100 GeneticVariation disease BEFREE Primary resistance to docetaxel-based chemotherapy in metastatic breast cancer patients correlates with a high frequency of BRCA1 mutations. 18591931 2008