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Article

ATM-heterozygous germline mutations contribute to breast cancer-susceptibility.

American journal of human genetics - 1 Feb 2000

Broeks A, Urbanus J H, Floore A N, Dahler E C, Klijn J G, Rutgers E J, Devilee P, Russell N S, van Leeuwen F E, van 't Veer L J

Abstract excerpt

Approximately 0.5%-1% of the general population has been estimated to be heterozygous for a germline mutation in the ATM gene. Mutations in the ATM gene are responsible for the autosomal recessive disorder ataxia-telangiectasia (A-T) (MIM 208900). The finding that ATM-heterozygotes have an increased relative risk for breast cancer was supported by some studies but not confirmed by others. In view of this...

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Identifiers

PMID: 10677309
DOI: 10.1086/302746
PMCID: PMC1288102

Genes

ATM

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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.

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ATM-heterozygous germline mutations contribute to breast cancer-susceptibility.PMID 10677309Read ↗

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