Source: CLINVAR

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 84142
Gene Symbol: ABRAXAS1
ABRAXAS1
CUI: C0677776
Disease: Hereditary Breast and Ovarian Cancer Syndrome
Hereditary Breast and Ovarian Cancer Syndrome 		0.100 GeneticVariation CLINVAR

Entrez Id: 472
Gene Symbol: ATM
ATM
CUI: C0677776
Disease: Hereditary Breast and Ovarian Cancer Syndrome
Hereditary Breast and Ovarian Cancer Syndrome 		0.160 GeneticVariation CLINVAR A unified analytic framework for prioritization of non-coding variants of uncertain significance in heritable breast and ovarian cancer. 27067391

2016
Entrez Id: 472
Gene Symbol: ATM
ATM
CUI: C0677776
Disease: Hereditary Breast and Ovarian Cancer Syndrome
Hereditary Breast and Ovarian Cancer Syndrome 		0.160 GeneticVariation CLINVAR Prioritizing Variants in Complete Hereditary Breast and Ovarian Cancer Genes in Patients Lacking Known BRCA Mutations. 26898890

2016
Entrez Id: 580
Gene Symbol: BARD1
BARD1
CUI: C0677776
Disease: Hereditary Breast and Ovarian Cancer Syndrome
Hereditary Breast and Ovarian Cancer Syndrome 		0.400 CausalMutation CLINVAR Identification of a Variety of Mutations in Cancer Predisposition Genes in Patients With Suspected Lynch Syndrome. 25980754

2015
Entrez Id: 580
Gene Symbol: BARD1
BARD1
CUI: C0677776
Disease: Hereditary Breast and Ovarian Cancer Syndrome
Hereditary Breast and Ovarian Cancer Syndrome 		0.400 CausalMutation CLINVAR Frequent incidence of BARD1-truncating mutations in germline DNA from triple-negative breast cancer patients. 26010302

2016
Entrez Id: 580
Gene Symbol: BARD1
BARD1
CUI: C0677776
Disease: Hereditary Breast and Ovarian Cancer Syndrome
Hereditary Breast and Ovarian Cancer Syndrome 		0.400 CausalMutation CLINVAR Prevalence of Pathogenic Mutations in Cancer Predisposition Genes among Pancreatic Cancer Patients. 26483394

2016
Entrez Id: 580
Gene Symbol: BARD1
BARD1
CUI: C0677776
Disease: Hereditary Breast and Ovarian Cancer Syndrome
Hereditary Breast and Ovarian Cancer Syndrome 		0.400 CausalMutation CLINVAR BARD1 nonsense variant c.1921C>T in a patient with recurrent breast cancer. 28174632

2017
Entrez Id: 580
Gene Symbol: BARD1
BARD1
CUI: C0677776
Disease: Hereditary Breast and Ovarian Cancer Syndrome
Hereditary Breast and Ovarian Cancer Syndrome 		0.400 CausalMutation CLINVAR Germline Mutations in the BRIP1, BARD1, PALB2, and NBN Genes in Women With Ovarian Cancer. 26315354

2015
Entrez Id: 580
Gene Symbol: BARD1
BARD1
CUI: C0677776
Disease: Hereditary Breast and Ovarian Cancer Syndrome
Hereditary Breast and Ovarian Cancer Syndrome 		0.400 CausalMutation CLINVAR Hereditary ovarian cancer: not only BRCA 1 and 2 genes. 26075229

2015
Entrez Id: 580
Gene Symbol: BARD1
BARD1
CUI: C0677776
Disease: Hereditary Breast and Ovarian Cancer Syndrome
Hereditary Breast and Ovarian Cancer Syndrome 		0.400 GeneticVariation CLINVAR Dualistic Role of BARD1 in Cancer. 29292755

2017
Entrez Id: 580
Gene Symbol: BARD1
BARD1
CUI: C0677776
Disease: Hereditary Breast and Ovarian Cancer Syndrome
Hereditary Breast and Ovarian Cancer Syndrome 		0.400 CausalMutation CLINVAR Cancer predisposing BARD1 mutations in breast-ovarian cancer families. 21344236

2012
Entrez Id: 580
Gene Symbol: BARD1
BARD1
CUI: C0677776
Disease: Hereditary Breast and Ovarian Cancer Syndrome
Hereditary Breast and Ovarian Cancer Syndrome 		0.400 CausalMutation CLINVAR Mutations predisposing to breast cancer in 12 candidate genes in breast cancer patients from Poland. 25330149

2015
Entrez Id: 580
Gene Symbol: BARD1
BARD1
CUI: C0677776
Disease: Hereditary Breast and Ovarian Cancer Syndrome
Hereditary Breast and Ovarian Cancer Syndrome 		0.400 CausalMutation CLINVAR Analysis of large mutations in BARD1 in patients with breast and/or ovarian cancer: the Polish population as an example. 25994375

2015
Entrez Id: 580
Gene Symbol: BARD1
BARD1
CUI: C0677776
Disease: Hereditary Breast and Ovarian Cancer Syndrome
Hereditary Breast and Ovarian Cancer Syndrome 		0.400 CausalMutation CLINVAR Cancer predisposing missense and protein truncating BARD1 mutations in non-BRCA1 or BRCA2 breast cancer families. 20077502

2010
Entrez Id: 580
Gene Symbol: BARD1
BARD1
CUI: C0677776
Disease: Hereditary Breast and Ovarian Cancer Syndrome
Hereditary Breast and Ovarian Cancer Syndrome 		0.400 CausalMutation CLINVAR Benchmarking of Whole Exome Sequencing and Ad Hoc Designed Panels for Genetic Testing of Hereditary Cancer. 28050010

2017
Entrez Id: 672
Gene Symbol: BRCA1
BRCA1
CUI: C0677776
Disease: Hereditary Breast and Ovarian Cancer Syndrome
Hereditary Breast and Ovarian Cancer Syndrome 		0.800 GeneticVariation 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
CUI: C0677776
Disease: Hereditary Breast and Ovarian Cancer Syndrome
Hereditary Breast and Ovarian Cancer Syndrome 		0.800 CausalMutation 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: 672
Gene Symbol: BRCA1
BRCA1
CUI: C0677776
Disease: Hereditary Breast and Ovarian Cancer Syndrome
Hereditary Breast and Ovarian Cancer Syndrome 		0.800 CausalMutation CLINVAR A high incidence of BRCA1 mutations in 20 breast-ovarian cancer families. 8554067

1996
Entrez Id: 672
Gene Symbol: BRCA1
BRCA1
CUI: C0677776
Disease: Hereditary Breast and Ovarian Cancer Syndrome
Hereditary Breast and Ovarian Cancer Syndrome 		0.800 CausalMutation 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
CUI: C0677776
Disease: Hereditary Breast and Ovarian Cancer Syndrome
Hereditary Breast and Ovarian Cancer Syndrome 		0.800 CausalMutation CLINVAR Mutations and polymorphic BRCA variants transmission in breast cancer familial members. 20352487

2011
Entrez Id: 672
Gene Symbol: BRCA1
BRCA1
CUI: C0677776
Disease: Hereditary Breast and Ovarian Cancer Syndrome
Hereditary Breast and Ovarian Cancer Syndrome 		0.800 CausalMutation CLINVAR A biochemical analysis demonstrates that the BRCA1 intronic variant IVS10-2A--> C is a mutation. 14513821

2003
Entrez Id: 672
Gene Symbol: BRCA1
BRCA1
CUI: C0677776
Disease: Hereditary Breast and Ovarian Cancer Syndrome
Hereditary Breast and Ovarian Cancer Syndrome 		0.800 CausalMutation CLINVAR BRCA1 and BRCA2 mutation analysis in breast-ovarian cancer families from northeastern Poland. 12673801

2003
Entrez Id: 672
Gene Symbol: BRCA1
BRCA1
CUI: C0677776
Disease: Hereditary Breast and Ovarian Cancer Syndrome
Hereditary Breast and Ovarian Cancer Syndrome 		0.800 CausalMutation CLINVAR Multimodal assessment of protein functional deficiency supports pathogenicity of BRCA1 p.V1688del. 19706752

2009
Entrez Id: 672
Gene Symbol: BRCA1
BRCA1
CUI: C0677776
Disease: Hereditary Breast and Ovarian Cancer Syndrome
Hereditary Breast and Ovarian Cancer Syndrome 		0.800 CausalMutation 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: 672
Gene Symbol: BRCA1
BRCA1
CUI: C0677776
Disease: Hereditary Breast and Ovarian Cancer Syndrome
Hereditary Breast and Ovarian Cancer Syndrome 		0.800 GeneticVariation CLINVAR Two Missense Mutations in the Primary Autosomal Recessive Microcephaly Gene MCPH1 Disrupt the Function of the Highly Conserved N-Terminal BRCT Domain of Microcephalin. 22855649

2012