BRCA2, BRCA2 DNA repair associated, 675

N. diseases: 656; N. variants: 3066
Disease: BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 2 ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs41293511
rs41293511
Entrez Id: 675
Gene Symbol: BRCA2
BRCA2
CUI: C2675520
Disease:
BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 2 		C 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: rs41293511
rs41293511
Entrez Id: 675
Gene Symbol: BRCA2
BRCA2
CUI: C2675520
Disease:
BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 2 		C 0.700 CausalMutation CLINVAR A classification model for BRCA2 DNA binding domain missense variants based on homology-directed repair activity. 23108138 2013
dbSNP: rs41293511
rs41293511
Entrez Id: 675
Gene Symbol: BRCA2
BRCA2
CUI: C2675520
Disease:
BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 2 		C 0.700 CausalMutation CLINVAR Guidelines for splicing analysis in molecular diagnosis derived from a set of 327 combined in silico/in vitro studies on BRCA1 and BRCA2 variants. 22505045 2012
dbSNP: rs41293511
rs41293511
Entrez Id: 675
Gene Symbol: BRCA2
BRCA2
CUI: C2675520
Disease:
BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 2 		C 0.700 CausalMutation CLINVAR Variation in breast cancer risk associated with factors related to pregnancies according to truncating mutation location, in the French National BRCA1 and BRCA2 mutations carrier cohort (GENEPSO). 22762150 2012
dbSNP: rs41293511
rs41293511
Entrez Id: 675
Gene Symbol: BRCA2
BRCA2
CUI: C2675520
Disease:
BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 2 		C 0.700 CausalMutation CLINVAR Functional assays for classification of BRCA2 variants of uncertain significance. 18451181 2008
dbSNP: rs41293511
rs41293511
Entrez Id: 675
Gene Symbol: BRCA2
BRCA2
CUI: C2675520
Disease:
BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 2 		C 0.700 CausalMutation CLINVAR Mouse embryonic stem cell-based functional assay to evaluate mutations in BRCA2. 18607349 2008
dbSNP: rs41293511
rs41293511
Entrez Id: 675
Gene Symbol: BRCA2
BRCA2
CUI: C2675520
Disease:
BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 2 		C 0.700 CausalMutation CLINVAR Differences in the frequency and distribution of BRCA1 and BRCA2 mutations in breast/ovarian cancer cases from the Basque country with respect to the Spanish population: implications for genetic counselling. 17262179 2007