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: C0027651
Disease: Neoplasms
Neoplasms
0.500 Biomarker group HPO
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.500 Biomarker group BEFREE <i>In vivo</i> therapeutic targeting of EF2K by CoFe-siRNA-nanoparticles leads to sustained <i>EF2K</i> gene knockdown and suppressed tumor growth in orthotopic xenograft models of BRCA1-mutated breast cancer. 31432749 2019
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.500 GeneticVariation group BEFREE 'BRCAness' is a term used to describe cancer cells that behave similarly to tumors with BRCA1 or BRCA2 mutations. 29620483 2018
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.500 Biomarker group BEFREE (1998) Stable interaction between the products of the BRCA1 and BRCA2 tumor suppressor genes in mitotic and meiotic cells.Mol.Cell, 2, 317-328]. 25652403 2015
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.500 Biomarker group BEFREE (99m)Tc-MIBI efflux rates were measured using a gamma camera in three Brca1 (-/-); p53 (-/-) mouse mammary tumors that have different Mdr1a/b expression levels. 19093112 2009
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.500 AlteredExpression group BEFREE 1.Identify the methylation status of BRCA1 in patients with epithelial ovarian cancer (EOC)and assess BRCA1 protein expression in tumor tissue.2. 25422243 2014
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.500 GeneticVariation group BEFREE 5 of the 6 (83%) informative BRCA2 mutation tumours showed AI at the BRCA1 locus. 11710835 2001
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.500 GeneticVariation group BEFREE Tumor DNA was tested for the three common BRCA1/2 founder mutations present in Ashkenazi Jews, and p27(Kip1) expression was evaluated by immunohistochemistry.The median follow-up was 6.4 years. 11118465 2000
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.500 GeneticVariation group BEFREE Tumors in BRCA1 mutation carriers were more likely than tumors in age-matched controls to be invasive serous adenocarcinomas (odds ratio, 1.84; 95% confidence interval, 1.21-2.79) and unlikely to be borderline or mucinous tumors. 15073127 2004
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.500 Biomarker group BEFREE Tumors with BRCA1 promoter methylation are present in all expression clusters; however, a subgroup of ER-positive high-grade tumors has a significantly greater number of BRCA1 methylated tumors. 15868446 2005
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.500 Biomarker group BEFREE Tumor DNA was obtained from BRCA1 (n = 14) and BRCA2 (n = 12) mutation carriers, as well as sporadic cases (n = 26). 16140926 2005
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.500 Biomarker group BEFREE Tumour size (hazard ratio (HR) 1.02 per mm increase, P = 0.016) and node status (HR 2.6 for three or more involved nodes versus node negative, P = 0.017) were independent predictors of overall survival in the familial non-BRCA1/2 group, and in the whole group, whereas contralateral breast cancer (HR 0.7, P = 0.503) and risk-reducing contralateral mastectomy (HR 0.4, P = 0.163) were not. 16758466 2006
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.500 GeneticVariation group BEFREE Tumor DT was estimated for 43 women with a BRCA1 mutation, 16 women with a BRCA2 mutation, and 41 women at high risk without an identified mutation. 18094417 2007
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.500 Biomarker group BEFREE Tumor suppressor BRCA1 and BRCA2 are frequently mutated in familial breast and ovarian cancer. 18720553 2008
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.500 AlteredExpression group BEFREE Tumor Nmut was associated with treatment response and with both PFS and OS in patients with high-grade serous ovarian cancer carrying BRCA1 or BRCA2 mutations. 24265793 2013
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.500 AlteredExpression group BEFREE Tumour expression level of BRCA1 was positively correlated with survival duration. 26740498 2016
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.500 Biomarker group BEFREE Tumor and/or peripheral blood was tested for BRCA1 and BRCA2 truncating mutations. 26757435 2018
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.500 GeneticVariation group BEFREE Tumors with BRCA1 or BRCA2 alterations were associated with a higher number of genomic aberrations (P < 0.001 and P < 0.001) and higher percentage of TP53 alterations (P < 0.001 and P < 0.001) than those without. 28124401 2017
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.500 Biomarker group BEFREE Tumor suppressor BRCA1 has important roles in multiple pathways, including gene transcription, DNA damage repair, and control of apoptosis. 28706506 2017
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.500 GeneticVariation group BEFREE Tumor suppressor genes BRCA1 and BRCA2 are the genes with most hereditary predisposition to breast and ovarian cancer. 28730229 2017
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.500 Biomarker group BEFREE Tumor suppressor gene products including BRCA1 and BRCA2 (BRCA1&2) play an important role in telomere maintenance. 29423116 2018
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.500 Biomarker group BEFREE Tumor xenograft models and breast cancer clinical data analyses further demonstrated an in vivo synthetic lethality interaction and clinical association between BET/TXNIP and BRCA1 deficiency in the survival of breast cancer patients. 30042414 2018
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.500 Biomarker group BEFREE Tumor suppressor BRCA1 and cell cycle regulator CCND1 play a critical role in maintaining genome integrity and tumorigenesis, respectively. 31023256 2019
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.500 Biomarker group 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: C0027651
Disease: Neoplasms
Neoplasms
0.500 GeneticVariation group BEFREE Tumors from women with BRCA1 mutations were significantly less likely to be estrogen receptor positive (age-adjusted odds ratio [or]: 0.091; P < 0.001) and more likely to have a high nuclear grade (OR: 5.55; P 0.001) than tumors in which no mutation was identified. 9241077 1997