Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 672
Gene Symbol: BRCA1
BRCA1 		0.700 CausalMutation disease CLINVAR Breast cancer genetics in African Americans. 12491487 2003
Entrez Id: 672
Gene Symbol: BRCA1
BRCA1 		0.700 CausalMutation disease CLINVAR A BRCA1 variant, IVS23+1G-->A, causes abnormal RNA splicing by deleting exon 23. 11428389 2001
Entrez Id: 672
Gene Symbol: BRCA1
BRCA1 		0.700 CausalMutation disease CLINVAR Functional assay for BRCA1: mutagenesis of the COOH-terminal region reveals critical residues for transcription activation. 10811118 2000
Entrez Id: 672
Gene Symbol: BRCA1
BRCA1 		0.700 CausalMutation disease CLINVAR Binding and recognition in the assembly of an active BRCA1/BARD1 ubiquitin-ligase complex. 12732733 2003
Entrez Id: 672
Gene Symbol: BRCA1
BRCA1 		0.700 CausalMutation disease CLINVAR Results of a population-based screening for hereditary breast cancer in a region of North-Central Italy: contribution of BRCA1/2 germ-line mutations. 18092194 2008
Entrez Id: 672
Gene Symbol: BRCA1
BRCA1 		0.700 CausalMutation disease CLINVAR BRCA1 genetic testing in 106 breast and ovarian cancer families from Southern Italy (Sicily): a mutation analyses. 17221156 2007
Entrez Id: 672
Gene Symbol: BRCA1
BRCA1 		0.700 CausalMutation disease CLINVAR The cancer-predisposing mutation C61G disrupts homodimer formation in the NH2-terminal BRCA1 RING finger domain. 9525870 1998
Entrez Id: 672
Gene Symbol: BRCA1
BRCA1 		0.700 CausalMutation disease CLINVAR Novel BRCA1 and BRCA2 pathogenic mutations in Slovene hereditary breast and ovarian cancer families. 22923021 2012
Entrez Id: 672
Gene Symbol: BRCA1
BRCA1 		0.700 CausalMutation disease CLINVAR Mutation analysis of BRCA1 and BRCA2 from 793 Korean patients with sporadic breast cancer. 17100994 2006
Entrez Id: 672
Gene Symbol: BRCA1
BRCA1 		0.700 CausalMutation disease CLINVAR Ashkenazi Jewish population frequencies for common mutations in BRCA1 and BRCA2. 8841191 1996
Entrez Id: 672
Gene Symbol: BRCA1
BRCA1 		0.700 CausalMutation disease CLINVAR Prevalence of founder mutations in the BRCA1 and BRCA2 genes among unaffected women from the Bahamas. 25920394 2016
Entrez Id: 672
Gene Symbol: BRCA1
BRCA1 		0.700 CausalMutation disease CLINVAR Identification of a RING protein that can interact in vivo with the BRCA1 gene product. 8944023 1996
Entrez Id: 672
Gene Symbol: BRCA1
BRCA1 		0.700 GeneticVariation disease CLINVAR Characterization of BRCA1 and BRCA2 deleterious mutations and variants of unknown clinical significance in unilateral and bilateral breast cancer: the WECARE study. 20104584 2010
Entrez Id: 672
Gene Symbol: BRCA1
BRCA1 		0.700 GeneticVariation disease CLINVAR Prevalence of BRCA1 and BRCA2 mutations in Pakistani breast and ovarian cancer patients. 16998791 2006
Entrez Id: 672
Gene Symbol: BRCA1
BRCA1 		0.700 CausalMutation disease CLINVAR BRCA1 and BRCA2 germline mutations screening in Algerian breast/ovarian cancer families. 20683152 2010
Entrez Id: 672
Gene Symbol: BRCA1
BRCA1 		0.700 GeneticVariation disease CLINVAR Prevalence and penetrance of germline BRCA1 and BRCA2 mutations in a population series of 649 women with ovarian cancer. 11179017 2001
Entrez Id: 672
Gene Symbol: BRCA1
BRCA1 		0.700 CausalMutation disease CLINVAR BRCA1 and BRCA2 mutations among breast cancer patients from the Philippines. 11920621 2002
Entrez Id: 672
Gene Symbol: BRCA1
BRCA1 		0.700 GeneticVariation disease CLINVAR BRCA1 R1699Q variant displaying ambiguous functional abrogation confers intermediate breast and ovarian cancer risk. 22889855 2012
Entrez Id: 672
Gene Symbol: BRCA1
BRCA1 		0.700 CausalMutation disease CLINVAR Association of BRCA1 and BRCA2 mutations with survival, chemotherapy sensitivity, and gene mutator phenotype in patients with ovarian cancer. 21990299 2011
Entrez Id: 672
Gene Symbol: BRCA1
BRCA1 		0.700 CausalMutation disease CLINVAR Prevalence of BRCA1 and BRCA2 germline mutations in young breast cancer patients: a population-based study. 12845657 2003
Entrez Id: 672
Gene Symbol: BRCA1
BRCA1 		0.700 CausalMutation disease CLINVAR BRCA1 sequence variations in 160 individuals referred to a breast/ovarian family cancer clinic. Institut Curie Breast Cancer Group. 9150149 1997
Entrez Id: 672
Gene Symbol: BRCA1
BRCA1 		0.700 CausalMutation disease CLINVAR Mutation analysis of the BRCA1 gene in 23 families with cases of cancer of the breast, ovary, and multiple other sites. 8933332 1996
Entrez Id: 672
Gene Symbol: BRCA1
BRCA1 		0.700 CausalMutation disease CLINVAR BRCA1 mutations in German breast-cancer families. 8900426 1996
Entrez Id: 672
Gene Symbol: BRCA1
BRCA1 		0.700 CausalMutation disease CLINVAR High prevalence of BRCA1 stop mutation c.4183C>T in the Tyrolean population: implications for genetic testing. 26014432 2016
Entrez Id: 672
Gene Symbol: BRCA1
BRCA1 		0.700 GeneticVariation disease CLINVAR A review of a multifactorial probability-based model for classification of BRCA1 and BRCA2 variants of uncertain significance (VUS). 21990134 2012