rs41293513, BRCA2

N. diseases: 3
Disease: Hereditary Breast and Ovarian Cancer Syndrome ×
Source: CLINVAR ×
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Hereditary Breast and Ovarian Cancer Syndrome
CUI: C0677776
Disease: Hereditary Breast and Ovarian Cancer Syndrome
0.700 CausalMutation CLINVAR BRCA1 and BRCA2 founder mutations account for 78% of germline carriers among hereditary breast cancer families in Chile. 29088781 2017
Hereditary Breast and Ovarian Cancer Syndrome
CUI: C0677776
Disease: Hereditary Breast and Ovarian Cancer Syndrome
0.700 CausalMutation CLINVAR In silico, in vitro and case-control analyses as an effective combination for analyzing BRCA1 and BRCA2 unclassified variants in a population-based sample. 27886673 2016
Hereditary Breast and Ovarian Cancer Syndrome
CUI: C0677776
Disease: Hereditary Breast and Ovarian Cancer Syndrome
0.700 CausalMutation CLINVAR Inherited mutations in 17 breast cancer susceptibility genes among a large triple-negative breast cancer cohort unselected for family history of breast cancer. 25452441 2015
Hereditary Breast and Ovarian Cancer Syndrome
CUI: C0677776
Disease: Hereditary Breast and Ovarian Cancer Syndrome
0.700 CausalMutation CLINVAR Detection of splicing aberrations caused by BRCA1 and BRCA2 sequence variants encoding missense substitutions: implications for prediction of pathogenicity. 20513136 2010
Hereditary Breast and Ovarian Cancer Syndrome
CUI: C0677776
Disease: Hereditary Breast and Ovarian Cancer Syndrome
0.700 CausalMutation CLINVAR A high proportion of DNA variants of BRCA1 and BRCA2 is associated with aberrant splicing in breast/ovarian cancer patients. 20215541 2010
Hereditary Breast and Ovarian Cancer Syndrome
CUI: C0677776
Disease: Hereditary Breast and Ovarian Cancer Syndrome
0.700 CausalMutation CLINVAR Functional assays for classification of BRCA2 variants of uncertain significance. 18451181 2008