Circadian PERformance in breast cancer: a germline and somatic genetic study of PER3^VNTR polymorphisms and gene co-expression.

ABSTRACT: Polymorphisms in the PER3 gene have been associated with several human disease phenotypes, including sleep disorders and cancer. In particular, the long allele of a variable number of tandem repeat (VNTR) polymorphism has been previously linked to an increased risk of breast cancer. Here we carried out a combined germline and somatic genetic analysis of the role of the PER3^VNRT polymorphism in breast cancer. The combined data from 8284 individuals showed a non-significant trend towards increased breast cancer risk in the 5-repeat allele homozygous carriers (OR = 1.17, 95% CI: 0.97-1.42). We observed allelic imbalance at the PER3 locus in matched blood and tumor DNA samples, showing a significant retention of the long variant (risk) allele in tumor samples, and a preferential los

SUBMITTER: Fores-Martos J 

PROVIDER: S-EPMC8433453 | biostudies-literature | 2021 Sep

REPOSITORIES: biostudies-literature