Breast tumors from ATM pathogenic variant carriers display a specific genome-wide DNA methylation profile.

ABSTRACT:

Background

The ataxia-telangiectasia mutated (ATM) kinase phosphorylates and activates several downstream targets that are essential for DNA damage repair, cell cycle inhibition and apoptosis. Germline biallelic inactivation of the ATM gene causes ataxia-telangiectasia (A-T), and heterozygous pathogenic variant (PV) carriers are at increased risk of cancer, notably breast cancer. This study aimed to investigate whether DNA methylation profiling can be useful as a biomarker to identify tumors arising in ATM PV carriers, which may help for the management and optimal tailoring of therapies of these patients.

Methods

Breast tumor enriched DNA was prepared from 2 A-T patients, 27 patients carrying an ATM PV, 6 patients carrying a variant of uncertain clinical significance and 484

SUBMITTER: Viart NM 

PROVIDER: S-EPMC11899765 | biostudies-literature | 2025 Mar

REPOSITORIES: biostudies-literature