BRCA2, BRCA2 DNA repair associated, 675

N. diseases: 656; N. variants: 3066
Disease: Carcinoma breast stage IV ×
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 CNS involvement is frequent in women with germline BRCA1/BRCA2 mutations who have metastatic breast cancer. 31581314 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 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 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 We report the first description of a never described double heterozygosity for BRCA1 and BRCA2 pathogenic variants in a French metastatic breast cancer patient, with two distinct histology, and two distinct mutations. 28184945 2017
CUI: C0278488
Disease: Carcinoma breast stage IV
Carcinoma breast stage IV 		0.100 GeneticVariation disease BEFREE The tetrahydroisoquinolone trabectedin administered at 1.3 mg/m<sup>2</sup> as a 3-h intravenous infusion every 3 weeks showed activity in patients with pretreated metastatic breast cancer (MBC) and BRCA germline mutations, but mainly in BRCA2 carriers. 28467918 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 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 GeneticVariation disease BEFREE A BRCA2 8765delAG mutation was identified, in the context of unusual and sustained complete remission from widely metastatic breast cancer. 19644536 2009
CUI: C0278488
Disease: Carcinoma breast stage IV
Carcinoma breast stage IV 		0.100 Biomarker disease BEFREE BRCA2-associated breast cancer is more sensitive to standard first-line chemotherapy for metastatic breast cancer in comparison with sporadic breast cancer, especially to anthracyclines. 19564533 2009