BARD1, BRCA1 associated RING domain 1, 580

N. diseases: 75; N. variants: 176
Disease: Hereditary Breast and Ovarian Cancer Syndrome ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs587781948
rs587781948
Entrez Id: 580
Gene Symbol: BARD1
BARD1
CUI: C0677776
Disease:
Hereditary Breast and Ovarian Cancer Syndrome 		A 0.700 CausalMutation CLINVAR Benchmarking of Whole Exome Sequencing and Ad Hoc Designed Panels for Genetic Testing of Hereditary Cancer. 28050010 2017
dbSNP: rs587781948
rs587781948
Entrez Id: 580
Gene Symbol: BARD1
BARD1
CUI: C0677776
Disease:
Hereditary Breast and Ovarian Cancer Syndrome 		A 0.700 CausalMutation CLINVAR BARD1 nonsense variant c.1921C>T in a patient with recurrent breast cancer. 28174632 2017
dbSNP: rs587781948
rs587781948
Entrez Id: 580
Gene Symbol: BARD1
BARD1
CUI: C0677776
Disease:
Hereditary Breast and Ovarian Cancer Syndrome 		A 0.700 CausalMutation CLINVAR Prevalence of Pathogenic Mutations in Cancer Predisposition Genes among Pancreatic Cancer Patients. 26483394 2016
dbSNP: rs587781948
rs587781948
Entrez Id: 580
Gene Symbol: BARD1
BARD1
CUI: C0677776
Disease:
Hereditary Breast and Ovarian Cancer Syndrome 		A 0.700 CausalMutation CLINVAR Frequent incidence of BARD1-truncating mutations in germline DNA from triple-negative breast cancer patients. 26010302 2016