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Article

Cancer risk in ATM heterozygotes: a model of phenotypic and mechanistic differences between missense and truncating mutations.

Molecular genetics and metabolism - 1 Dec 1999

Gatti R A, Tward A, Concannon P

Abstract excerpt

The failure to find an increased frequency of ATM mutations in large cancer cohorts, especially breast cancer, is contrary to what was anticipated based on the increased cancer susceptibility of obligate ATM heterozygotes from families with ataxia-telangiectasia (A-T). We hypothesize that this paradox might be resolved if two types of ATM heterozygotes exist and the phenotypes differ, i.e., those with truncating...

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Source

Identifiers

PMID: 10607471
DOI: 10.1006/mgme.1999.2942

Genes

ATM

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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Cancer risk in ATM heterozygotes: a model of phenotypic and mechanistic differences between missense and truncating mutations.PMID 10607471Read ↗

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