Gene: BRCA2 ×
Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs144848
rs144848
BRCA2
0.100 GeneticVariation BEFREE Polymorphic coding and noncoding variants were transmitted in each family's relatives with a frequency ranging from 42 to 100%, with similar rate for each SNP in mutated and nonmutated families with the only exception of BRCA1 K1183R significantly more frequent in mutated families (P = 0.004); conversely, this SNP and BRCA2 N372H, were more frequently present in breast cancer relatives belonging to families in which pathological BRCA mutations were not present. 20352487

2011
dbSNP: rs144848
rs144848
BRCA2
0.100 GeneticVariation BEFREE The BRCA2 372 HH genotype defined by the BRCA2 N372H nonconservative amino acid substitution polymorphism was recently reported to be associated with a small increased risk of breast cancer. 12471628

2003
dbSNP: rs144848
rs144848
BRCA2
0.100 GeneticVariation BEFREE Previous association studies of breast cancer and BRCA2 N372H and functional observations for APEX D148E ran counter to our findings of decreased risks. 15113441

2004
dbSNP: rs1555281715
rs1555281715
BRCA2
C 0.700 CausalMutation CLINVAR

dbSNP: rs1555283256
rs1555283256
BRCA2
A 0.700 CausalMutation CLINVAR

dbSNP: rs1555287766
rs1555287766
BRCA2
A 0.700 CausalMutation CLINVAR

dbSNP: rs15869
rs15869
BRCA2
0.010 GeneticVariation BEFREE Gene-reproductive factors interactions analysis revealed that rs15869 together with age at menarche and number of pregnancy could increase the risk of BC by 2.39-fold and TT genotype (OR 0.316; 95% CI 0.130-0.767) of rs8176318 had a significant association with progesterone receptor status in BC patients. 27807724

2016
dbSNP: rs1799944
rs1799944
BRCA2
0.010 GeneticVariation BEFREE Carriers of the BRCA2 rs1799944 variant (991 Asp) were found to have an increased risk of breast cancer (OR = 1.41, 95% CI 1.08-1.83, P = 0.01) with P (trend) = 0.0076. 18553220

2009
dbSNP: rs1799955
rs1799955
BRCA2
0.010 GeneticVariation BEFREE However, both SNPs, BRCA2 Ser2414Ser (7242A > G) and Ser455Ser (1365A > G), showed no association with breast cancer risk. 19229607

2009
dbSNP: rs1801426
rs1801426
BRCA2
0.010 GeneticVariation BEFREE Our study confirmed BRCA2 p.Ile3412Val is presented in >2% of unaffected women and is likely benign, and BRCA2 p.Ala1996Thr which is predicted to be likely pathogenic by in-silico models is presented in 2% of healthy Indian women suggesting that it may not be associated with breast cancer risk. 28222693

2017
dbSNP: rs1801439
rs1801439
BRCA2
0.010 GeneticVariation BEFREE However, both SNPs, BRCA2 Ser2414Ser (7242A > G) and Ser455Ser (1365A > G), showed no association with breast cancer risk. 19229607

2009
dbSNP: rs206340
rs206340
BRCA2
0.010 GeneticVariation BEFREE These results could be explained on the basis of a single marker in intron 24 (SNP 42: rs206340) that was correlated with these haplotypes and the homozygous state was associated with a significantly increased risk of breast cancer (AA versus GG genotypes: OR=1.59, 95% CI, 1.18-2.16; nominal P=0.005). 15317758

2004
dbSNP: rs276174853
rs276174853
BRCA2
G 0.700 CausalMutation CLINVAR

dbSNP: rs276174900
rs276174900
BRCA2
T 0.700 CausalMutation CLINVAR

dbSNP: rs28897706
rs28897706
BRCA2
0.700 GeneticVariation UNIPROT

dbSNP: rs28897708
rs28897708
BRCA2
0.700 GeneticVariation UNIPROT

dbSNP: rs28897716
rs28897716
BRCA2
0.700 GeneticVariation UNIPROT High proportion of missense mutations of the BRCA1 and BRCA2 genes in Japanese breast cancer families. 9609997

1998
dbSNP: rs28897716
rs28897716
BRCA2
0.700 GeneticVariation UNIPROT BRCA2 T2722R is a deleterious allele that causes exon skipping. 12145750

2002
dbSNP: rs28897716
rs28897716
BRCA2
0.700 GeneticVariation UNIPROT Germline brca2 sequence variants in patients with ocular melanoma. 10399947

1999
dbSNP: rs28897716
rs28897716
BRCA2
0.700 GeneticVariation UNIPROT BRCA2 germline mutations in male breast cancer patients in the Polish population. 11139248

2001
dbSNP: rs28897716
rs28897716
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: rs28897716
rs28897716
BRCA2
0.700 GeneticVariation UNIPROT Hereditary breast and ovarian cancer in Cyprus: identification of a founder BRCA2 mutation. 15172753

2004
dbSNP: rs28897716
rs28897716
BRCA2
0.700 GeneticVariation UNIPROT An improved high throughput heteroduplex mutation detection system for screening BRCA2 mutations-fluorescent mutation detection (F-MD). 11241844

2001
dbSNP: rs28897716
rs28897716
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: rs28897716
rs28897716
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