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Article

Rare variants in the ATM gene and risk of breast cancer.

Breast cancer research : BCR - 25 Jul 2011

Goldgar David E, Healey Sue, Dowty James G, Da Silva Leonard, Chen Xiaoqing, Spurdle Amanda B, Terry Mary Beth, Daly Mary J, Buys Saundra M, Southey Melissa C, Andrulis Irene, John Esther M, Khanna Kum Kum, Hopper John L, Oefner Peter J, Lakhani Sunil, Chenevix-Trench Georgia

Abstract excerpt

INTRODUCTION: The ataxia-telangiectasia mutated (ATM) gene (MIM ID 208900) encodes a protein kinase that plays a significant role in the activation of cellular responses to DNA double-strand breaks through subsequent phosphorylation of central players in the DNA damage-response pathway. Recent studies have confirmed that some specific variants in the ATM gene are associated with increased breast cancer (BC) risk....

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Source

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Identifiers

PMID: 21787400
DOI: 10.1186/bcr2919
PMCID: PMC3236337

Genes

ATM
BRCA2

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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Rare variants in the ATM gene and risk of breast cancer.PMID 21787400Read ↗

Dominant negative ATM mutations in breast cancer families.Semantic proximity Read ↗

Germline Pathogenic Variants in the Ataxia Telangiectasia Mutated (ATM) Gene are Associated with High and Moderate Risks for Multiple Cancers.Semantic proximity Read ↗

Population-based estimates of age-specific cumulative risk of breast cancer for pathogenic variants in ATM.Semantic proximity Read ↗

ATM germline mutations in Spanish early-onset breast cancer patients negative for BRCA1/BRCA2 mutations.Semantic proximity Read ↗

Ataxia-telangiectasia gene (ATM) mutation heterozygosity in breast cancer: a narrative review.Semantic proximity Read ↗

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

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

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

Population-based estimates of breast cancer risks associated with ATM gene variants c.7271T>G and c.1066-6T>G (IVS10-6T>G) from the Breast Cancer Family Registry.Semantic proximity Read ↗

Penetrance of ATM Gene Mutations in Breast Cancer: A Meta-Analysis of Different Measures of Risk.Semantic proximity Read ↗

ATM germline mutations in women with familial breast cancer and a relative with haematological malignancy.Semantic proximity Read ↗

Increased frequency of ATM mutations in breast carcinoma patients with early onset disease and positive family history.Semantic proximity Read ↗

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