APOBEC3A/B deletion polymorphism and endometrial cancer risk.

ABSTRACT:

Background

A common 30 kb deletion affecting the APOBEC3A and APOBEC3B genes has been linked to increased APOBEC activity and APOBEC-related mutational signatures in human cancers. The role of this deletion as a cancer risk factor remains controversial.

Materials and methods

We genotyped the APOBEC3A/B deletion in a sample of 1,470 Norwegian endometrial cancer cases and compared to 1,918 healthy controls. For assessment across Caucasian populations, we mined genotypes of the SNP rs12628403, which is in strong linkage disequilibrium with the deletion, in a GWAS dataset of 4,274 cases and 18,125 healthy controls, through the ECAC consortium.

Results

We found the APOBEC3A/B deletion variant to be significantly associated with reduced risk of endometrial cancer among Norw

SUBMITTER: Sofiyeva N 

PROVIDER: S-EPMC10067079 | biostudies-literature | 2023 Mar

REPOSITORIES: biostudies-literature