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 It is not yet known how frequently somatic BRCA1 mutations predispose to breast and ovarian carcinoma in the general female population. 8173065 1993
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 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 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 To compare BRCA1 mutations in papillary serous carcinoma of the peritoneum and papillary serous ovarian carcinoma. 9764635 1998
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 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 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 GeneticVariation disease BEFREE One mutation and three rare variants were identified in four women with no family history of breast or ovarian carcinoma whereas all women with affected first-degree relatives did not harbor BRCA1 mutations. 10951344 2000
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 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 GeneticVariation disease BEFREE Women with an existing breast carcinoma diagnosis who are found to carry a BRCA1/2 mutation have a substantial risk of developing both a contralateral breast carcinoma and ovarian carcinoma. 11900216 2002
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 GeneticVariation disease BEFREE Multiple mechanisms cause nearly universal dysfunction of BRCA1 and/or BRCA2 in hereditary and sporadic ovarian carcinoma. 12237285 2002
CUI: C0029925
Disease: Ovarian Carcinoma
Ovarian Carcinoma
0.500 GeneticVariation disease BEFREE The similar frequency distribution of BRCA1/2 mutations in PPC and OvC observed in the present study indicates that these mutations may predispose to PPC as well and that this neoplasm is part of the hereditary breast-ovarian cancer syndrome. 12504628 2003
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 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 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 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 The identification of germ-line mutations in 2 genes (BRCA1 and BRCA2) responsible for the majority of hereditary ovarian cancers has led an increasing number of women carriers of these mutations to undergo prophylactic oophorectomy (PO) to reduce their risk of subsequent ovarian carcinoma. 17001151 2006
CUI: C0029925
Disease: Ovarian Carcinoma
Ovarian Carcinoma
0.500 GeneticVariation disease BEFREE We propagated a novel BRCA1-null human ovarian cancer cell line UWB1.289 from a tumor of papillary serous histology, the most common form of ovarian carcinoma. 17259345 2007