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 GeneticVariation disease CLINVAR BRCA1 sequence analysis in women at high risk for susceptibility mutations. Risk factor analysis and implications for genetic testing. 9333265 1997
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: 675
Gene Symbol: BRCA2
BRCA2 		0.800 GeneticVariation disease CLINVAR Assessment of functional effects of unclassified genetic variants. 18951449 2008
Entrez Id: 672
Gene Symbol: BRCA1
BRCA1 		0.800 GeneticVariation disease BEFREE We describe twenty-nine novel BRCA1 and BRCA2 variants detected in Italian individuals suffering from hereditary breast and ovarian cancer syndrome (HBOC). 29020660 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 GeneticVariation disease BEFREE Experience of risk-reducing salpingo-oophorectomy for a BRCA1 mutation carrier and establishment of a system performing a preventive surgery for hereditary breast and ovarian cancer syndrome in Japan: our challenges for the future. 23487443 2013
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 GeneticVariation disease BEFREE The aim of this study was to develop an NGS-based workflow for routine diagnostics for hereditary breast and ovarian cancer syndrome (HBOCS), to improve genetic testing for BRCA1 and BRCA2. 23249957 2013
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 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: 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: 672
Gene Symbol: BRCA1
BRCA1 		0.800 GeneticVariation disease BEFREE Other hereditary disorders predisposing to PC include Peutz-Jeghers syndrome, due to the STK11 mutation, familial pancreatitis due to the cationic trypsinogen gene, site-specific familial pancreatic cancer which may be due to the 4q32-34 mutation, hereditary breast-ovarian cancer (HBOC) syndrome that is due to BRCA2 and possibly some families with HBOC that is due to BRCA1 , familial adenomatous polyposis due to the ATP gene, and ataxia telangiectasia due to the ATM germline mutation. 15516847 2004
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: 675
Gene Symbol: BRCA2
BRCA2 		0.800 GeneticVariation disease CLINVAR A high-throughput protocol for mutation scanning of the BRCA1 and BRCA2 genes. 21702907 2011
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 GeneticVariation disease CLINVAR The role of targeted BRCA1/BRCA2 mutation analysis in hereditary breast/ovarian cancer families of Portuguese ancestry. 24916970 2015
Entrez Id: 675
Gene Symbol: BRCA2
BRCA2 		0.800 GeneticVariation disease CLINVAR A comprehensive functional characterization of BRCA2 variants associated with Fanconi anemia using mouse ES cell-based assay. 21719596 2011
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