The Landscape of Somatic Genetic Alterations in Breast Cancers From ATM Germline Mutation Carriers.
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ABSTRACT:
SUBMITTER: Weigelt B
PROVIDER: S-EPMC6136925 | biostudies-literature | 2018 Sep
REPOSITORIES: biostudies-literature
Publications
The Landscape of Somatic Genetic Alterations in Breast Cancers From ATM Germline Mutation Carriers.
Weigelt Britta B Bi Rui R Kumar Rahul R Blecua Pedro P Mandelker Diana L DL Geyer Felipe C FC Pareja Fresia F James Paul A PA Couch Fergus J FJ Eccles Diana M DM Blows Fiona F Pharoah Paul P Li Anqi A Selenica Pier P Lim Raymond S RS Jayakumaran Gowtham G Waddell Nic N Shen Ronglai R Norton Larry L Wen Hannah Y HY Powell Simon N SN Riaz Nadeem N Robson Mark E ME Reis-Filho Jorge S JS Chenevix-Trench Georgia G
Journal of the National Cancer Institute 20180901 9
Pathogenic germline variants in ataxia-telangiectasia mutated (ATM), a gene that plays a role in DNA damage response and cell cycle checkpoints, confer an increased breast cancer (BC) risk. Here, we investigated the phenotypic characteristics and landscape of somatic genetic alterations in 24 BCs from ATM germline mutation carriers by whole-exome and targeted sequencing. ATM-associated BCs were consistently hormone receptor positive and largely displayed minimal immune infiltrate. Although 79.2% ...[more]
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