Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Hereditary Breast and Ovarian Cancer Syndrome
0.700 CausalMutation CLINVAR Somatic mutations in the BRCA1 gene in sporadic ovarian tumours. 7795652 1995
Hereditary Breast and Ovarian Cancer Syndrome
0.700 CausalMutation CLINVAR Confirmation of BRCA1 by analysis of germline mutations linked to breast and ovarian cancer in ten families. 7894493 1994
Hereditary Breast and Ovarian Cancer Syndrome
0.700 CausalMutation CLINVAR Human BRCA1 inhibits growth in yeast: potential use in diagnostic testing. 9159158 1997
Hereditary Breast and Ovarian Cancer Syndrome
0.700 CausalMutation CLINVAR The cancer-predisposing mutation C61G disrupts homodimer formation in the NH2-terminal BRCA1 RING finger domain. 9525870 1998
Hereditary Breast and Ovarian Cancer Syndrome
0.700 CausalMutation CLINVAR Founder mutations in the BRCA1 gene in Polish families with breast-ovarian cancer. 10788334 2000
Hereditary Breast and Ovarian Cancer Syndrome
0.700 CausalMutation CLINVAR BRCA1 physically and functionally interacts with ATF1. 10945975 2000
Hereditary Breast and Ovarian Cancer Syndrome
0.700 CausalMutation CLINVAR The RING heterodimer BRCA1-BARD1 is a ubiquitin ligase inactivated by a breast cancer-derived mutation. 11278247 2001
Hereditary Breast and Ovarian Cancer Syndrome
0.700 CausalMutation CLINVAR Cancer-predisposing mutations within the RING domain of BRCA1: loss of ubiquitin protein ligase activity and protection from radiation hypersensitivity. 11320250 2001
Hereditary Breast and Ovarian Cancer Syndrome
0.700 CausalMutation CLINVAR BRCA1 and BRCA2 mutation status and cancer family history of Danish women affected with multifocal or bilateral breast cancer at a young age. 11389159 2001
Hereditary Breast and Ovarian Cancer Syndrome
0.700 CausalMutation CLINVAR Average age-specific cumulative risk of breast cancer according to type and site of germline mutations in BRCA1 and BRCA2 estimated from multiple-case breast cancer families attending Australian family cancer clinics. 12601471 2003
Hereditary Breast and Ovarian Cancer Syndrome
0.700 CausalMutation CLINVAR Binding and recognition in the assembly of an active BRCA1/BARD1 ubiquitin-ligase complex. 12732733 2003
Hereditary Breast and Ovarian Cancer Syndrome
0.700 CausalMutation CLINVAR Contributions of ATM mutations to familial breast and ovarian cancer. 12810666 2003
Hereditary Breast and Ovarian Cancer Syndrome
0.700 CausalMutation CLINVAR BRCA1 : BARD1 induces the formation of conjugated ubiquitin structures, dependent on K6 of ubiquitin, in cells during DNA replication and repair. 14976165 2004
Hereditary Breast and Ovarian Cancer Syndrome
0.700 CausalMutation CLINVAR The BRCA1 RING and BRCT domains cooperate in targeting BRCA1 to ionizing radiation-induced nuclear foci. 15569676 2005
Hereditary Breast and Ovarian Cancer Syndrome
0.700 CausalMutation CLINVAR High proportion of recurrent germline mutations in the BRCA1 gene in breast and ovarian cancer patients from the Prague area. 16168118 2005
Hereditary Breast and Ovarian Cancer Syndrome
0.700 CausalMutation CLINVAR Genetic analysis of BRCA1 ubiquitin ligase activity and its relationship to breast cancer susceptibility. 16403807 2006
Hereditary Breast and Ovarian Cancer Syndrome
0.700 CausalMutation CLINVAR A yeast recombination assay to characterize human BRCA1 missense variants of unknown pathological significance. 18680205 2009
Hereditary Breast and Ovarian Cancer Syndrome
0.700 CausalMutation CLINVAR Characterization of BRCA1 ring finger variants of uncertain significance. 19543972 2010
Hereditary Breast and Ovarian Cancer Syndrome
0.700 CausalMutation CLINVAR Haplotype of the C61G BRCA1 mutation in Polish and Jewish individuals. 19594371 2009
Hereditary Breast and Ovarian Cancer Syndrome
0.700 CausalMutation CLINVAR Identification of breast tumor mutations in BRCA1 that abolish its function in homologous DNA recombination. 20103620 2010
Hereditary Breast and Ovarian Cancer Syndrome
0.700 CausalMutation CLINVAR Occult ovarian cancers identified at risk-reducing salpingo-oophorectomy in a prospective cohort of BRCA1/2 mutation carriers. 20180014 2010
Hereditary Breast and Ovarian Cancer Syndrome
0.700 CausalMutation CLINVAR The contribution of founder mutations in BRCA1 to breast and ovarian cancer in Lithuania. 20345474 2010
Hereditary Breast and Ovarian Cancer Syndrome
0.700 CausalMutation CLINVAR The contribution of founder mutations in BRCA1 to breast cancer in Belarus. 20507347 2010
Hereditary Breast and Ovarian Cancer Syndrome
0.700 CausalMutation CLINVAR High frequency and allele-specific differences of BRCA1 founder mutations in breast cancer and ovarian cancer patients from Belarus. 20569256 2010
Hereditary Breast and Ovarian Cancer Syndrome
0.700 CausalMutation CLINVAR BRCA1 and BRCA2 germline mutations screening in Algerian breast/ovarian cancer families. 20683152 2010