| GWAS snp
|
| PMID
|
[PMID 24698998 ]
|
| Trait
|
Breast cancer
|
| Title
|
DNA Glycosylases Involved in Base Excision Repair May Be Associated with Cancer Risk in BRCA1 and BRCA2 Mutation Carriers.
|
| Risk Allele
|
T
|
| P-val
|
2.7E-3
|
| Odds Ratio
|
1.09 [1.03-1.16]
|
Minor allele increases risk of breast cancer in BRCA2 mutation carriers in a study size of 23,463 carriers[PMID 24698998]. The study considers rs804276 and rs804271 more likely causal variants, but they're not tested by standard beadchips. All are thought to affect NEIL2, which removes oxidized bases from transcribing genes.
[PMID 21169365] Preferential repair of oxidized base damage in the transcribed genes of mammalian cells
[PMID 21945496] Look beyond one's own nose: combination of information from publicly available sources reveals an association of GATA4 polymorphisms with plasma triglycerides
]
