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: C0029925
Disease: Ovarian Carcinoma
Ovarian Carcinoma
0.500 Biomarker disease HPO
CUI: C0029925
Disease: Ovarian Carcinoma
Ovarian Carcinoma
0.500 CausalMutation disease CGI
CUI: C0029925
Disease: Ovarian Carcinoma
Ovarian Carcinoma
0.500 GenomicAlterations disease CGI
CUI: C0029925
Disease: Ovarian Carcinoma
Ovarian Carcinoma
0.500 GeneticVariation disease BEFREE Ovarian carcinoma in situ with germline BRCA1 mutation and loss of heterozygosity at BRCA1 and TP53. 10880552 2000
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 BRCA-1 and BRCA-2 are tumor suppressor genes in familial breast-ovarian carcinoma syndrome. 11550149 2001
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 Biomarker disease BEFREE BRCA1/2 pathogenic (P) and likely pathogenic (LP) germline variants are frequent among patients with ovarian carcinoma. 30606148 2019
CUI: C0029925
Disease: Ovarian Carcinoma
Ovarian Carcinoma
0.500 GeneticVariation disease BEFREE BRCA1 5382insC mutation in sporadic and familial breast and ovarian carcinoma in Scotland. 9155062 1997
CUI: C0029925
Disease: Ovarian Carcinoma
Ovarian Carcinoma
0.500 GeneticVariation disease BEFREE A high proportion of young women with invasive OC have mutations in BRCA1, and a smaller fraction have mutations in other known OC genes. 26718727 2016
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 Biomarker disease BEFREE Aberrant Promoter Hypermethylation of RASSF1a and BRCA1 in Circulating Cell-Free Tumor DNA Serves as a Biomarker of Ovarian Carcinoma. 31653147 2019
CUI: C0029925
Disease: Ovarian Carcinoma
Ovarian Carcinoma
0.500 GeneticVariation disease BEFREE Alteration of expression of the tumor suppressor gene BRCA-1 has been widely studied in breast and ovarian carcinoma. 30446260 2019
CUI: C0029925
Disease: Ovarian Carcinoma
Ovarian Carcinoma
0.500 GeneticVariation disease BEFREE Antitumor activity and safety of the PARP inhibitor rucaparib in patients with high-grade ovarian carcinoma and a germline or somatic BRCA1 or BRCA2 mutation: Integrated analysis of data from Study 10 and ARIEL2. 28882436 2017
CUI: C0029925
Disease: Ovarian Carcinoma
Ovarian Carcinoma
0.500 GeneticVariation disease BEFREE At the time of salpingo-oophorectomy, five of 58 BRCA1 carriers (8.6%) were diagnosed with an occult carcinoma: two fallopian tube carcinomas, two ovarian carcinomas and one case was defined as a fallopian tube/ovarian carcinoma. 15083174 2004
CUI: C0029925
Disease: Ovarian Carcinoma
Ovarian Carcinoma
0.500 GeneticVariation disease BEFREE BRCA2 mutations were less common than BRCA1 mutations in families with any history of ovarian carcinoma. 10717622 2000
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 Eligible patients are premenopausal BRCA1/2 mutation carriers after completing childbearing without (a history of) ovarian carcinoma. 26286255 2015
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 GeneticVariation disease BEFREE Germ-line mutations in the BRCA1 and BRCA2 genes confer a predisposition to breast as well as ovarian carcinoma. 9661879 1998
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 Here, we show that the p53-related gene p73, encoding a proapoptotic protein that is linked to chemosensitivity in many settings, is upregulated through a novel epigenetic mechanism in both human and murine models of BRCA1-associated ovarian carcinoma. 20807817 2010
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 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 Biomarker disease BEFREE Intraepithelial T cells and prognosis in ovarian carcinoma: novel associations with stage, tumor type, and BRCA1 loss. 19060844 2009