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Two ATM variants and breast cancer risk.

Human mutation - 1 Jun 2005

Thompson Deborah, Antoniou Antonis C, Jenkins Mark, Marsh Anna, Chen Xiaoqing, Wayne Tierney, Tesoriero Andrea, Milne Roger, Spurdle Amanda, Thorstenson Yvonne, Southey Melissa, Giles Graham G, Khanna Kum Kum, Sambrook Joseph, Oefner Peter, Goldgar David, Hopper John L, Easton Doug, Chenevix-Trench Georgia

Abstract excerpt

The ATM gene is mutated in ataxia-telangiectasia (AT). Heterozygote female relatives of AT cases have a 2-7fold increased risk of breast cancer. We previously reported high risks of breast cancer associated with certain ATM variants. To estimate the risks more precisely, we have examined two ATM variants, c.1066-6T>G (IVS10-6T>G) and c.4258C>T (p.Leu1420Phe), in additional cases and controls from the same...

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Source

Identifiers

PMID: 15880680
DOI: 10.1002/humu.9344

Genes

ATM
BRCA1

Variants

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.

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Two ATM variants and breast cancer risk.PMID 15880680Read ↗

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Are ATM mutations 7271T-->G and IVS10-6T-->G really high-risk breast cancer-susceptibility alleles?Semantic proximity Read ↗

IVS10-6T>G, an ancient ATM germline mutation linked with breast cancer.Semantic proximity Read ↗

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Rare variants in the ATM gene and risk of breast cancer.Semantic proximity Read ↗

Whole genome joint analysis reveals ATM:C.1564_1565del variant segregating with Ataxia-Telangiectasia and breast cancer.Semantic proximity Read ↗

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

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