This SNP, a variant in the BRCA2 gene, is 1 of 25 SNPs reported to represent independently minor, but cumulatively significant, increased risk for breast cancer. [PMID 17341484]
For details of all 25 SNPs in this group, along with the two methods used to calculate overall risk estimates for breast cancer, refer to the SNPedia breast cancer entry.
For this particular SNP, the risk (minor) allele is (T).
[PMID 18974781
] Cataloging coding sequence variations in human genome databases.
| GWAS snp
|
| PMID
|
[PMID 23535733]
|
| Trait
|
Breast cancer
|
| Title
|
Genome-wide association studies identify four ER negative-specific breast cancer risk loci.
|
| Risk Allele
|
T
|
| P-val
|
6E-6
|
| Odds Ratio
|
1.52 [1.31-1.77]
|
| GWAS snp
|
| PMID
|
[PMID 23535729]
|
| Trait
|
Breast cancer
|
| Title
|
Large-scale genotyping identifies 41 new loci associated with breast cancer risk.
|
| Risk Allele
|
T
|
| P-val
|
5E-8
|
| Odds Ratio
|
1.26 [1.14-1.39]
|
| GWAS snp
|
| PMID
|
[PMID 24880342]
|
| Trait
|
Lung cancer
|
| Title
|
Rare variants of large effect in BRCA2 and CHEK2 affect risk of lung cancer.
|
| Risk Allele
|
T
|
| P-val
|
2E-19
|
| Odds Ratio
|
1.83 [1.61-2.09]
|
[PMID 25838448] A Rare Truncating BRCA2 Variant and Genetic Susceptibility to Upper Aerodigestive Tract Cancer
[PMID 26455428] Reevaluation of the BRCA2 truncating allele c.9976A > T (p.Lys3326Ter) in a familial breast cancer context
[PMID 26586665] BRCA2 Polymorphic Stop Codon K3326X and the Risk of Breast, Prostate, and Ovarian Cancers
] Cataloging coding sequence variations in human genome databases.
