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Article

ATM mutations that cause ataxia-telangiectasia are breast cancer susceptibility alleles.

Nature genetics - 1 Aug 2006

Renwick Anthony, Thompson Deborah, Seal Sheila, Kelly Patrick, Chagtai Tasnim, Ahmed Munaza, North Bernard, Jayatilake Hiran, Barfoot Rita, Spanova Katarina, McGuffog Lesley, Evans D Gareth, Eccles Diana, Easton Douglas F, Stratton Michael R, Rahman Nazneen

Abstract excerpt

We screened individuals from 443 familial breast cancer pedigrees and 521 controls for ATM sequence variants and identified 12 mutations in affected individuals and two in controls (P = 0.0047). The results demonstrate that ATM mutations that cause ataxia-telangiectasia in biallelic carriers are breast cancer susceptibility alleles in monoallelic carriers, with an estimated relative risk of 2.37 (95% confidence...

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Identifiers

PMID: 16832357
DOI: 10.1038/ng1837

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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