Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 672
Gene Symbol: BRCA1
BRCA1 		0.800 GermlineCausalMutation disease ORPHANET Hereditary ovarian cancer. 16112002 2005
Entrez Id: 675
Gene Symbol: BRCA2
BRCA2 		0.800 GermlineCausalMutation disease ORPHANET Hereditary ovarian cancer. 16112002 2005
Entrez Id: 5889
Gene Symbol: RAD51C
RAD51C 		0.500 GermlineCausalMutation disease ORPHANET Consequently, we have performed a large RAD51C mutation screen of hereditary breast and ovarian cancer families, and the first study of unselected patients diagnosed with ovarian cancer. 21990120 2012
Entrez Id: 5889
Gene Symbol: RAD51C
RAD51C 		0.500 GermlineCausalMutation disease ORPHANET Germline mutations in breast and ovarian cancer pedigrees establish RAD51C as a human cancer susceptibility gene. 20400964 2010
Entrez Id: 5892
Gene Symbol: RAD51D
RAD51D 		0.420 GermlineCausalMutation disease ORPHANET Germline mutations in RAD51D confer susceptibility to ovarian cancer. 21822267 2011
Entrez Id: 672
Gene Symbol: BRCA1
BRCA1 		0.800 CausalMutation disease CLINVAR G1738R is a BRCA1 founder mutation in Greek breast/ovarian cancer patients: evaluation of its pathogenicity and inferences on its genealogical history. 17902052 2008
Entrez Id: 675
Gene Symbol: BRCA2
BRCA2 		0.800 CausalMutation disease CLINVAR High prevalence of BRCA1 deletions in BRCAPRO-positive patients with high carrier probability. 17591842 2007
Entrez Id: 675
Gene Symbol: BRCA2
BRCA2 		0.800 CausalMutation disease CLINVAR Multi-gene panel testing for hereditary cancer predisposition in unsolved high-risk breast and ovarian cancer patients. 28281021 2017
Entrez Id: 672
Gene Symbol: BRCA1
BRCA1 		0.800 CausalMutation disease CLINVAR A high incidence of BRCA1 mutations in 20 breast-ovarian cancer families. 8554067 1996
Entrez Id: 672
Gene Symbol: BRCA1
BRCA1 		0.800 CausalMutation 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 		0.800 CausalMutation disease CLINVAR Mutations and polymorphic BRCA variants transmission in breast cancer familial members. 20352487 2011
Entrez Id: 672
Gene Symbol: BRCA1
BRCA1 		0.800 CausalMutation disease CLINVAR A biochemical analysis demonstrates that the BRCA1 intronic variant IVS10-2A--> C is a mutation. 14513821 2003
Entrez Id: 675
Gene Symbol: BRCA2
BRCA2 		0.800 CausalMutation disease CLINVAR Hepatoblastoma in a 4-year-old girl with Fanconi anaemia. 21138478 2011
Entrez Id: 675
Gene Symbol: BRCA2
BRCA2 		0.800 CausalMutation disease CLINVAR Increased risk of male cancer and identification of a potential prostate cancer cluster region in BRCA2. 26360800 2016
Entrez Id: 672
Gene Symbol: BRCA1
BRCA1 		0.800 CausalMutation disease CLINVAR BRCA1 and BRCA2 mutation analysis in breast-ovarian cancer families from northeastern Poland. 12673801 2003
Entrez Id: 672
Gene Symbol: BRCA1
BRCA1 		0.800 CausalMutation disease CLINVAR Multimodal assessment of protein functional deficiency supports pathogenicity of BRCA1 p.V1688del. 19706752 2009
Entrez Id: 675
Gene Symbol: BRCA2
BRCA2 		0.800 CausalMutation disease CLINVAR Clinical and pathological characteristics of Hispanic BRCA-associated breast cancers in the American-Mexican border city of El Paso, TX. 25628955 2015
Entrez Id: 675
Gene Symbol: BRCA2
BRCA2 		0.800 CausalMutation disease CLINVAR Pyrimidine base damage is increased in women with BRCA mutations. 23583677 2013
Entrez Id: 672
Gene Symbol: BRCA1
BRCA1 		0.800 CausalMutation disease CLINVAR Double heterozygosity for mutations in BRCA1 and BRCA2 in German breast cancer patients: implications on test strategies and clinical management. 22535016 2012
Entrez Id: 675
Gene Symbol: BRCA2
BRCA2 		0.800 CausalMutation disease CLINVAR Functional analysis of a large set of BRCA2 exon 7 variants highlights the predictive value of hexamer scores in detecting alterations of exonic splicing regulatory elements. 23983145 2013
Entrez Id: 675
Gene Symbol: BRCA2
BRCA2 		0.800 CausalMutation disease CLINVAR Genetic and histopathologic evaluation of BRCA1 and BRCA2 DNA sequence variants of unknown clinical significance. 16489001 2006
Entrez Id: 672
Gene Symbol: BRCA1
BRCA1 		0.800 CausalMutation disease CLINVAR A specific GFP expression assay, penetrance estimate, and histological assessment for a putative splice site mutation in BRCA1. 12815598 2003
Entrez Id: 675
Gene Symbol: BRCA2
BRCA2 		0.800 CausalMutation disease CLINVAR Evaluation of unclassified variants in the breast cancer susceptibility genes BRCA1 and BRCA2 using five methods: results from a population-based study of young breast cancer patients. 18284688 2008
Entrez Id: 672
Gene Symbol: BRCA1
BRCA1 		0.800 CausalMutation disease CLINVAR BRCA1 germline mutations and tumor characteristics in Chinese women with familial or early-onset breast cancer. 18512148 2009
Entrez Id: 672
Gene Symbol: BRCA1
BRCA1 		0.800 CausalMutation disease CLINVAR Genetic diagnosis of familial breast cancer using clonal sequencing. 20127978 2010