The Landscape of Somatic Genetic Alterations in Breast Cancers From ATM Germline Mutation Carriers.

doi:10.1093/jnci/djy028

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Article

The Landscape of Somatic Genetic Alterations in Breast Cancers From ATM Germline Mutation Carriers.

Journal of the National Cancer Institute - 1 Sept 2018

Weigelt Britta, Bi Rui, Kumar Rahul, Blecua Pedro, Mandelker Diana L, Geyer Felipe C, Pareja Fresia, James Paul A, Couch Fergus J, Eccles Diana M, Blows Fiona, Pharoah Paul, Li Anqi, Selenica Pier, Lim Raymond S, Jayakumaran Gowtham, Waddell Nic, Shen Ronglai, Norton Larry, Wen Hannah Y, Powell Simon N, Riaz Nadeem, Robson Mark E, Reis-Filho Jorge S, Chenevix-Trench Georgia

Abstract excerpt

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...

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Identifiers

PMID: 29506079
DOI: 10.1093/jnci/djy028
PMCID: PMC6136925

Genes

ATM
BRCA1

Provenance

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Source receipt: pubmed, retrieved 7 Sept 2026.

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