Gene: BRCA2 ×
Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1057520611
rs1057520611
BRCA2
0.010 GeneticVariation BEFREE Four previously reported polymorphisms (K1183R, S1613G, and M1652I in BRCA1, and 7470A>G in BRCA2) were detected in both controls and breast cancer patients. 17018160

2006
dbSNP: rs41293475
rs41293475
BRCA2
0.010 GeneticVariation BEFREE We identified the unclassified variant S384F in three of the four breast cancer patients (the three were diagnosed at 41, 43 and 57 years of age). 16168123

2005
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: rs80358561
rs80358561
BRCA2
0.010 GeneticVariation BEFREE DNA sequencing from III: 22 (diagnosed with lobular BC) identified a BRCA2 exon 3 542G>T (L105X) mutation. 14735197

2004
dbSNP: rs786201704
rs786201704
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: rs80359130
rs80359130
BRCA2
0.010 GeneticVariation BEFREE Remarkably, FA-AML1 cells appeared to lack the characteristic cellular FA phenotype, i.e., a hypersensitivity to growth inhibition and chromosomal breakage by the cross-linking agent mitomycin C. Genomic DNA from the patient showed biallelic mutations [8415G>T (K2729N)and 8732C>A (S2835STOP)] in the breast cancer susceptibility gene FANCD1/BRCA2 [N. Howlett et al., Science (Wash. DC), 297: 606-609, 2002]. 12750298

2003
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: rs80358547
rs80358547
BRCA2
0.010 GeneticVariation BEFREE RNA analysis from a breast cancer patient with BRCA2 IVS7 + 2T --> G showed that the productive message was produced from only one chromosome. 11185744

2000