Identification of sequence polymorphism in the D-loop region of mitochondrial DNA as a risk factor for breast cancer.

ABSTRACT: Mitochondrial DNA (mtDNA) variations affect the efficiency of the electron transport chain and production of reactive oxygen species, contributing to carcinogenesis. The D-loop region of mtDNA has emerged as a variation hotspot region in human neoplasia; however, the potential contribution of these variations in breast cancer risk prediction remains unknown. We investigated the relationship between germline single nucleotide polymorphisms (SNPs) in the entire D-loop region and breast cancer risk in Chinese women. Peripheral blood-isolated mtDNA from 2329 patients with breast cancer and 2328 cancer-free controls was examined for SNPs. In the combined cohort, we used traditional risk factors, susceptibility germline polymorphisms, and logistic regression analysis to evaluate the predictive v

SUBMITTER: Nie Q 

PROVIDER: S-EPMC11611757 | biostudies-literature | 2024 Dec

REPOSITORIES: biostudies-literature