Pathogenic ATM Mutations in Cancer and a Genetic Basis for Radiotherapeutic Efficacy.

doi:10.1093/jnci/djaa095

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Article

Pathogenic ATM Mutations in Cancer and a Genetic Basis for Radiotherapeutic Efficacy.

Journal of the National Cancer Institute - 1 Mar 2021

Pitter Kenneth L, Casey Dana L, Lu Yue C, Hannum Margaret, Zhang Zhigang, Song Xinmao, Pecorari Isabella, McMillan Biko, Ma Jennifer, Samstein Robert M, Pei Isaac X, Khan Atif J, Braunstein Lior Z, Morris Luc G T, Barker Christopher A, Rimner Andreas, Alektiar Kaled M, Romesser Paul B, Crane Christopher H, Yahalom Joachim, Zelefsky Michael J, Scher Howard I, Bernstein Jonine L, Mandelker Diana L, Weigelt Britta, Reis-Filho Jorge S, Lee Nancy Y, Powell Simon N, Chan Timothy A, Riaz Nadeem, Setton Jeremy

Abstract excerpt

BACKGROUND: Radiation therapy is one of the most commonly used cancer therapeutics but genetic determinants of clinical benefit are poorly characterized. Pathogenic germline variants in ATM are known to cause ataxia-telangiectasia, a rare hereditary syndrome notable for marked radiosensitivity. In contrast, somatic inactivation of ATM is a common event in a wide variety of cancers, but its clinical actionability...

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Identifiers

PMID: 32726432
DOI: 10.1093/jnci/djaa095
PMCID: PMC7936050

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