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 GeneticVariation disease CLINVAR Hereditary breast cancer in Middle Eastern and North African (MENA) populations: identification of novel, recurrent and founder BRCA1 mutations in the Tunisian population. 21603858 2012
Entrez Id: 672
Gene Symbol: BRCA1
BRCA1 		0.700 GeneticVariation disease CLINVAR Missense mutations of BRCA1 gene affect the binding with p53 both in vitro and in vivo. 16969499 2006
Entrez Id: 672
Gene Symbol: BRCA1
BRCA1 		0.700 GeneticVariation disease CLINVAR Novel BRCA1 and BRCA2 germline mutations and assessment of mutation spectrum and prevalence in Italian breast and/or ovarian cancer families. 16847550 2006
Entrez Id: 672
Gene Symbol: BRCA1
BRCA1 		0.700 GeneticVariation disease UNIPROT Twenty-three novel BRCA1 and BRCA2 sequence alterations in breast and/or ovarian cancer families in Southern Germany. 12938098 2003
Entrez Id: 672
Gene Symbol: BRCA1
BRCA1 		0.700 GeneticVariation disease CLINVAR A high-throughput functional complementation assay for classification of BRCA1 missense variants. 23867111 2013
Entrez Id: 672
Gene Symbol: BRCA1
BRCA1 		0.700 GeneticVariation 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 GeneticVariation disease CLINVAR Mutation screening of RAD51C in high-risk breast and ovarian cancer families. 22476429 2012
Entrez Id: 672
Gene Symbol: BRCA1
BRCA1 		0.700 GeneticVariation disease CLINVAR Mutational analysis of BRCA1 and BRCA2 in hereditary breast and ovarian cancer families from Asturias (Northern Spain). 23683081 2013
Entrez Id: 672
Gene Symbol: BRCA1
BRCA1 		0.700 GeneticVariation disease CLINVAR BRCA1/BRCA2 mutation status and clinical-pathologic features of 108 male breast cancer cases from Tuscany: a population-based study in central Italy. 18819001 2009
Entrez Id: 672
Gene Symbol: BRCA1
BRCA1 		0.700 GeneticVariation disease CLINVAR Histopathological features of 'BRCAX' familial breast cancers in the kConFab resource. 18446624 2008
Entrez Id: 672
Gene Symbol: BRCA1
BRCA1 		0.700 GeneticVariation disease CLINVAR Validation of an NGS Approach for Diagnostic BRCA1/BRCA2 Mutation Testing. 25893891 2015
Entrez Id: 672
Gene Symbol: BRCA1
BRCA1 		0.700 GeneticVariation disease CLINVAR A systematic genetic assessment of 1,433 sequence variants of unknown clinical significance in the BRCA1 and BRCA2 breast cancer-predisposition genes. 17924331 2007
Entrez Id: 672
Gene Symbol: BRCA1
BRCA1 		0.700 GeneticVariation disease CLINVAR Probability of BRCA1/2 mutation varies with ovarian histology: results from screening 442 ovarian cancer families. 18312450 2008
Entrez Id: 672
Gene Symbol: BRCA1
BRCA1 		0.700 GeneticVariation disease CLINVAR Contribution of germline BRCA1 and BRCA2 sequence alterations to breast cancer in Northern India. 17018160 2006
Entrez Id: 672
Gene Symbol: BRCA1
BRCA1 		0.700 GeneticVariation disease CLINVAR Specific changes in the proteomic pattern produced by the BRCA1-Ser1841Asn missense mutation. 17005433 2007
Entrez Id: 672
Gene Symbol: BRCA1
BRCA1 		0.700 GeneticVariation disease UNIPROT BRCA1 R841W: a strong candidate for a common mutation with moderate phenotype. 8968716 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 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 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 GeneticVariation disease CLINVAR A review of a multifactorial probability-based model for classification of BRCA1 and BRCA2 variants of uncertain significance (VUS). 21990134 2012
Entrez Id: 672
Gene Symbol: BRCA1
BRCA1 		0.700 GeneticVariation disease CLINVAR Contribution of bioinformatics predictions and functional splicing assays to the interpretation of unclassified variants of the BRCA genes. 21673748 2011
Entrez Id: 672
Gene Symbol: BRCA1
BRCA1 		0.700 GeneticVariation disease CLINVAR Mutations in 12 genes for inherited ovarian, fallopian tube, and peritoneal carcinoma identified by massively parallel sequencing. 22006311 2011
Entrez Id: 672
Gene Symbol: BRCA1
BRCA1 		0.700 GeneticVariation disease CLINVAR Comprehensive analysis of 989 patients with breast or ovarian cancer provides BRCA1 and BRCA2 mutation profiles and frequencies for the German population. 11802209 2002
Entrez Id: 672
Gene Symbol: BRCA1
BRCA1 		0.700 GeneticVariation disease CLINVAR A change in the last base of BRCA1 exon 23, 5586G-->A, results in abnormal RNA splicing. 12034536 2002