BRCA2, BRCA2 DNA repair associated, 675

N. diseases: 656; N. variants: 3066
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: rs45580035
rs45580035
Entrez Id: 675
Gene Symbol: BRCA2
BRCA2
CUI: C0677776
Disease:
Hereditary Breast and Ovarian Cancer Syndrome 		T 0.700 CausalMutation CLINVAR Improving performance of multigene panels for genomic analysis of cancer predisposition. 26845104 2016
dbSNP: rs45580035
rs45580035
Entrez Id: 675
Gene Symbol: BRCA2
BRCA2
CUI: C0677776
Disease:
Hereditary Breast and Ovarian Cancer Syndrome 		T 0.700 CausalMutation CLINVAR Next-generation sequencing of the BRCA1 and BRCA2 genes for the genetic diagnostics of hereditary breast and/or ovarian cancer. 25556971 2015
dbSNP: rs45580035
rs45580035
Entrez Id: 675
Gene Symbol: BRCA2
BRCA2
CUI: C0677776
Disease:
Hereditary Breast and Ovarian Cancer Syndrome 		T 0.700 CausalMutation CLINVAR An efficient pipeline for the generation and functional analysis of human BRCA2 variants of uncertain significance. 25146914 2014
dbSNP: rs45580035
rs45580035
Entrez Id: 675
Gene Symbol: BRCA2
BRCA2
CUI: C0677776
Disease:
Hereditary Breast and Ovarian Cancer Syndrome 		T 0.700 CausalMutation CLINVAR Clinical characteristics of ovarian cancer classified by BRCA1, BRCA2, and RAD51C status. 24504028 2014
dbSNP: rs45580035
rs45580035
Entrez Id: 675
Gene Symbol: BRCA2
BRCA2
CUI: C0677776
Disease:
Hereditary Breast and Ovarian Cancer Syndrome 		T 0.700 CausalMutation CLINVAR The contribution of deleterious germline mutations in BRCA1, BRCA2 and the mismatch repair genes to ovarian cancer in the population. 24728189 2014
dbSNP: rs45580035
rs45580035
Entrez Id: 675
Gene Symbol: BRCA2
BRCA2
CUI: C0677776
Disease:
Hereditary Breast and Ovarian Cancer Syndrome 		T 0.700 CausalMutation CLINVAR A classification model for BRCA2 DNA binding domain missense variants based on homology-directed repair activity. 23108138 2013
dbSNP: rs45580035
rs45580035
Entrez Id: 675
Gene Symbol: BRCA2
BRCA2
CUI: C0677776
Disease:
Hereditary Breast and Ovarian Cancer Syndrome 		T 0.700 CausalMutation CLINVAR A review of a multifactorial probability-based model for classification of BRCA1 and BRCA2 variants of uncertain significance (VUS). 21990134 2012
dbSNP: rs45580035
rs45580035
Entrez Id: 675
Gene Symbol: BRCA2
BRCA2
CUI: C0677776
Disease:
Hereditary Breast and Ovarian Cancer Syndrome 		T 0.700 CausalMutation CLINVAR Characterization of BRCA1 and BRCA2 deleterious mutations and variants of unknown clinical significance in unilateral and bilateral breast cancer: the WECARE study. 20104584 2010
dbSNP: rs45580035
rs45580035
Entrez Id: 675
Gene Symbol: BRCA2
BRCA2
CUI: C0677776
Disease:
Hereditary Breast and Ovarian Cancer Syndrome 		T 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
dbSNP: rs45580035
rs45580035
Entrez Id: 675
Gene Symbol: BRCA2
BRCA2
CUI: C0677776
Disease:
Hereditary Breast and Ovarian Cancer Syndrome 		T 0.700 CausalMutation CLINVAR A method to assess the clinical significance of unclassified variants in the BRCA1 and BRCA2 genes based on cancer family history. 19200354 2009
dbSNP: rs45580035
rs45580035
Entrez Id: 675
Gene Symbol: BRCA2
BRCA2
CUI: C0677776
Disease:
Hereditary Breast and Ovarian Cancer Syndrome 		T 0.700 CausalMutation CLINVAR Mouse embryonic stem cell-based functional assay to evaluate mutations in BRCA2. 18607349 2008
dbSNP: rs45580035
rs45580035
Entrez Id: 675
Gene Symbol: BRCA2
BRCA2
CUI: C0677776
Disease:
Hereditary Breast and Ovarian Cancer Syndrome 		T 0.700 CausalMutation CLINVAR Functional assays for classification of BRCA2 variants of uncertain significance. 18451181 2008