BRCA1, BRCA1 DNA repair associated, 672

N. diseases: 576; N. variants: 169
Source: BEFREE ×
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0029925
Disease: Ovarian Carcinoma
Ovarian Carcinoma
0.500 GeneticVariation disease BEFREE Morphologic patterns associated with BRCA1 and BRCA2 genotype in ovarian carcinoma. 22193042 2012
CUI: C0029925
Disease: Ovarian Carcinoma
Ovarian Carcinoma
0.500 AlteredExpression disease BEFREE We found that high-grade serous ovarian carcinoma had significantly higher MIR182 (P=0.0003) and HMGA2 (P=0.04) expression, and significantly lower BRCA1 (P<0.0001) and FOXO3 (P<0.001) expression than normal controls. 22790015 2012
CUI: C0029925
Disease: Ovarian Carcinoma
Ovarian Carcinoma
0.500 GeneticVariation disease BEFREE With the recent introduction of Poly(ADP-ribose) polymerase inhibitors, a promising novel therapy has become available for ovarian carcinoma (OC) patients with inactivating BRCA1 or BRCA2 mutations in their tumor. 27767231 2017
CUI: C0029925
Disease: Ovarian Carcinoma
Ovarian Carcinoma
0.500 Biomarker disease BEFREE Increased cell survival by inhibition of BRCA1 using an antisense approach in an estrogen responsive ovarian carcinoma cell line. 11056686 2000
CUI: C0029925
Disease: Ovarian Carcinoma
Ovarian Carcinoma
0.500 GeneticVariation disease BEFREE Germline mutations in the BRCA1 and BRCA2 genes are associated with an inherited predisposition to breast and ovarian carcinoma, and specific mutations in these genes are found at increased frequency in certain populations. 12879478 2003
CUI: C0029925
Disease: Ovarian Carcinoma
Ovarian Carcinoma
0.500 Biomarker disease BEFREE This study suggests that BRCA1 protein is a prognostic marker in sporadic OC patients with minimal RD. 21368065 2011
CUI: C0029925
Disease: Ovarian Carcinoma
Ovarian Carcinoma
0.500 PosttranslationalModification disease BEFREE BRCA1 promoter hypermethylation and protein expression in ovarian carcinoma--an Indian study. 24385383 2014
CUI: C0029925
Disease: Ovarian Carcinoma
Ovarian Carcinoma
0.500 AlteredExpression disease BEFREE Low BRCA1 expression in primary sporadic ovarian carcinoma is associated with prolonged survival. 19602291 2009
CUI: C0029925
Disease: Ovarian Carcinoma
Ovarian Carcinoma
0.500 Biomarker disease BEFREE Routine germline BRCA1 and BRCA2 testing in patients with ovarian carcinoma: analysis of the Scottish real-life experience. 29460478 2018
CUI: C0029925
Disease: Ovarian Carcinoma
Ovarian Carcinoma
0.500 GeneticVariation disease BEFREE Clinical characteristics and outcomes of patients with BRCA1 or RAD51C methylated versus mutated ovarian carcinoma. 29233532 2018
CUI: C0029925
Disease: Ovarian Carcinoma
Ovarian Carcinoma
0.500 GeneticVariation disease BEFREE Women with family histories suggestive of an increased risk of ovarian carcinoma who have not had a deleterious BRCA1 or BRCA2 mutation identified are commonly suggested to consider ovarian carcinoma screening with transvaginal ultrasound and/or assessment of CA 125 levels. 15948173 2005
CUI: C0029925
Disease: Ovarian Carcinoma
Ovarian Carcinoma
0.500 GeneticVariation disease BEFREE In women with breast cancer, mutations in BRCA1 and BRCA2 were associated with a 10-fold increased risk of subsequent ovarian carcinoma (P = .005). 9667259 1998
CUI: C0029925
Disease: Ovarian Carcinoma
Ovarian Carcinoma
0.500 GeneticVariation disease BEFREE Transitional cell ovarian carcinoma is a rare histologic variant of epithelial ovarian cancer that may occur in BRCA1 mutation carriers. 11975969 2002
CUI: C0029925
Disease: Ovarian Carcinoma
Ovarian Carcinoma
0.500 Biomarker disease BEFREE Intraepithelial T cells and prognosis in ovarian carcinoma: novel associations with stage, tumor type, and BRCA1 loss. 19060844 2009
CUI: C0029925
Disease: Ovarian Carcinoma
Ovarian Carcinoma
0.500 Biomarker disease BEFREE Methylation of all BRCA1 copies predicts response to the PARP inhibitor rucaparib in ovarian carcinoma. 30266954 2018
CUI: C0029925
Disease: Ovarian Carcinoma
Ovarian Carcinoma
0.500 GeneticVariation disease BEFREE Four carriers of pathogenic mutations in both BRCA1 and BRCA2 were identified among women who underwent genetic counseling for hereditary susceptibility to breast and ovarian carcinoma at three different Italian institutions. 20373018 2010
CUI: C0029925
Disease: Ovarian Carcinoma
Ovarian Carcinoma
0.500 Biomarker disease BEFREE BRCA1 is a tumor suppressor gene that is responsible for hereditary breast and ovarian carcinoma syndrome. 11443609 2001
CUI: C0029925
Disease: Ovarian Carcinoma
Ovarian Carcinoma
0.500 Biomarker disease BEFREE These findings confirm a high rate of loss of BRCA1 protein expression in sporadic OEC and suggest a role of BRCA1 in the progression of sporadic ovarian carcinoma. 16515585 2006
CUI: C0029925
Disease: Ovarian Carcinoma
Ovarian Carcinoma
0.500 GeneticVariation disease BEFREE A patient with breast carcinoma diagnosed at the age of 30 years and ovarian carcinoma diagnosed at the age of 41 years was found to have germline mutations in both the BRCA1 and the BRCA2 genes. 9790802 1998
CUI: C0029925
Disease: Ovarian Carcinoma
Ovarian Carcinoma
0.500 GeneticVariation disease BEFREE The germline BRCA1 mutation rate in USC subjects of 2% is higher than expected in a nonfounder population, suggesting that USC is associated with hereditary breast and ovarian carcinoma in a small proportion of cases. 22811390 2013