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ABSTRACT: Background and purpose
The translationally controlled tumor protein 1 (TPT1/TCTP) has been implicated in the intracellular DNA damage response. We tested the role of TPT1 in breast cancer (BC) predisposition and re-evaluated its function in Ataxia-Telangiectasia mutated (ATM)-mediated damage recognition and DNA repair.Material and methods
The TPT1 coding sequence was scanned for mutations in genomic DNA from 200 breast cancer patients. TPT1 was down-regulated through siRNA in breast epithelial and fibroblast cell cultures. ATM activation after irradiation (IR) was analyzed by western blotting, and γH2A.X foci were monitored by immunocytochemistry.Results
The sequencing study identified a novel, potentially damaging missense mutation in a single patient
SUBMITTER: Neuhauser K
PROVIDER: S-EPMC6378894 | biostudies-literature | 2019 Feb
REPOSITORIES: biostudies-literature