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Article

Missense mutations but not allelic variants alter the function of ATM by dominant interference in patients with breast cancer.

Proceedings of the National Academy of Sciences of the United States of America - 22 Jan 2002

Scott Shaun P, Bendix Regina, Chen Philip, Clark Raymond, Dork Thilo, Lavin Martin F

Abstract excerpt

The human genetic disorder ataxia-telangiectasia (A-T) is characterized by hypersensitivity to ionizing radiation and an elevated risk of malignancy. Epidemiological data support an increased risk for breast and other cancers in A-T heterozygotes. However, screening breast cancer cases for truncating mutations in the ATM (A-T mutated) gene has failed largely to reveal an increased incidence in these patients. It...

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Source

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Identifiers

PMID: 11805335
DOI: 10.1073/pnas.012329699
PMCID: PMC117407

Genes

ATM

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

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Missense mutations but not allelic variants alter the function of ATM by dominant interference in patients with breast cancer.PMID 11805335Read ↗

Identification of germline missense mutations and rare allelic variants in the ATM gene in early-onset breast cancer.Semantic proximity Read ↗

Functional consequences of sequence alterations in the ATM gene.Semantic proximity Read ↗

The relationship between twenty missense ATM variants and breast cancer risk: the Multiethnic Cohort.Semantic proximity Read ↗

Functional and computational assessment of missense variants in the ataxia-telangiectasia mutated (ATM) gene: mutations with increased cancer risk.Semantic proximity Read ↗

Spectrum of ATM gene mutations in a hospital-based series of unselected breast cancer patients.Semantic proximity Read ↗

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

Rare, evolutionarily unlikely missense substitutions in ATM confer increased risk of breast cancer.Semantic proximity Read ↗

Loss of ATM kinase activity leads to embryonic lethality in mice.Semantic proximity Read ↗

Underexpression and abnormal localization of ATM products in ataxia telangiectasia patients bearing ATM missense mutations.Semantic proximity Read ↗

Missense variants in ATM in 26,101 breast cancer cases and 29,842 controls.Semantic proximity Read ↗

Functional consequences of ATM sequence variants for chromosomal radiosensitivity.Semantic proximity Read ↗

ATM and genome maintenance: defining its role in breast cancer susceptibility.Semantic proximity Read ↗

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