Gene: BRCA2 ×
Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs886040494
rs886040494
BRCA2
T 0.700 GeneticVariation CLINVAR

dbSNP: rs886040403
rs886040403
BRCA2
T 0.700 CausalMutation CLINVAR

dbSNP: rs886040340
rs886040340
BRCA2
0.010 GeneticVariation BEFREE Our findings establish L35P as the first pathogenic missense mutation in PALB2 and directly demonstrate the requirement of the PALB2-BRCA1 interaction for breast cancer suppression. 28319063

2017
dbSNP: rs886038058
rs886038058
BRCA2
G 0.700 CausalMutation CLINVAR

dbSNP: rs879255331
rs879255331
BRCA2
G 0.700 CausalMutation CLINVAR

dbSNP: rs879255328
rs879255328
BRCA2
C 0.700 CausalMutation CLINVAR

dbSNP: rs879255327
rs879255327
BRCA2
GA 0.700 CausalMutation CLINVAR

dbSNP: rs879255326
rs879255326
BRCA2
A 0.700 CausalMutation CLINVAR

dbSNP: rs879255323
rs879255323
BRCA2
CATT 0.700 CausalMutation CLINVAR

dbSNP: rs879255322
rs879255322
BRCA2
C 0.700 CausalMutation CLINVAR

dbSNP: rs878853582
rs878853582
BRCA2
0.010 GeneticVariation BEFREE In addition, one missense variant, L1420F, was observed in 13 HBOC families (4.8%) but was not observed in any of the 122 healthy volunteers with no history of breast cancer. 12810666

2003
dbSNP: rs876660828
rs876660828
BRCA2
0.700 GeneticVariation UNIPROT Control of BRCA2 cellular and clinical functions by a nuclear partner, PALB2. 16793542

2006
dbSNP: rs876660828
rs876660828
BRCA2
0.700 GeneticVariation UNIPROT BRCA2 T2722R is a deleterious allele that causes exon skipping. 12145750

2002
dbSNP: rs876660828
rs876660828
BRCA2
0.700 GeneticVariation UNIPROT Twenty-three novel BRCA1 and BRCA2 sequence alterations in breast and/or ovarian cancer families in Southern Germany. 12938098

2003
dbSNP: rs876660828
rs876660828
BRCA2
0.700 GeneticVariation UNIPROT Somatic mutations in the BRCA2 gene and high frequency of allelic loss of BRCA2 in sporadic male breast cancer. 11948477

2002
dbSNP: rs876660828
rs876660828
BRCA2
0.700 GeneticVariation UNIPROT Novel germline mutations in the BRCA1 and BRCA2 genes in Indian breast and breast-ovarian cancer families. 14722926

2004
dbSNP: rs876660828
rs876660828
BRCA2
0.700 GeneticVariation UNIPROT Global sequence diversity of BRCA2: analysis of 71 breast cancer families and 95 control individuals of worldwide populations. 9971877

1999
dbSNP: rs876660828
rs876660828
BRCA2
0.700 GeneticVariation UNIPROT BRCA2 germline mutations in familial pancreatic carcinoma. 12569143

2003
dbSNP: rs876660828
rs876660828
BRCA2
0.700 GeneticVariation UNIPROT BRCA2 germline mutations in male breast cancer patients in the Polish population. 11139248

2001
dbSNP: rs876660828
rs876660828
BRCA2
0.700 GeneticVariation UNIPROT BRCA1 and BRCA2 germline mutations in Korean patients with sporadic breast cancer. 15365993

2004
dbSNP: rs876660828
rs876660828
BRCA2
0.700 GeneticVariation UNIPROT BRCA2 germline mutations among early onset breast cancer patients unselected for family history of the disease. 10978364

2000
dbSNP: rs876660828
rs876660828
BRCA2
0.700 GeneticVariation UNIPROT Germline brca2 sequence variants in patients with ocular melanoma. 10399947

1999
dbSNP: rs876660828
rs876660828
BRCA2
0.700 GeneticVariation UNIPROT Frequency of BRCA1 and BRCA2 germline mutations in Japanese breast cancer families. 11149425

2001
dbSNP: rs876660828
rs876660828
BRCA2
0.700 GeneticVariation UNIPROT High throughput fluorescence-based conformation-sensitive gel electrophoresis (F-CSGE) identifies six unique BRCA2 mutations and an overall low incidence of BRCA2 mutations in high-risk BRCA1-negative breast cancer families. 9654203

1998
dbSNP: rs876660828
rs876660828
BRCA2
0.700 GeneticVariation UNIPROT BRCA1 and BRCA2 germline mutation spectrum and frequencies in Belgian breast/ovarian cancer families. 15026808

2004