Conference Proceedings
Abstract PD1-15: The landscape of somatic genetic alterations in breast cancers from ATM germline mutation carriers
B Weigelt, R Bi, R Kumar, PA James, H Thorne, FJ Couch, DM Eccles, F Blows, FC Geyer, A Li, P Selenica, RS Lim, P Blecua, R Shen, H Wen, ME Robson, JS Reis-Filho, G Chenevix-Trench
Cancer Research | American Association for Cancer Research (AACR) | Published : 2018
Abstract
Abstract Introduction:Pathogenic and/or founder germline variants in the ataxia-telangiectasia mutated (ATM) gene confer an increased breast cancer (BC) risk. The protein kinase ATM plays a central role inDNA double-strand break-repair and in the activation of downstream targets such as p53 and BRCA1. We sought to define the repertoire of somatic genetic alterations of BCs from patients with pathogenic germline ATM mutations and whether somatic loss of heterozygosity (LOH) of ATM would be present in these cancers. Methods: 21 BCs from ATM germline mutation carriers were microdissected. Tumor and normal DNA samples were subjected to whole-exome sequencing (WES, n..
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