ATM c.7570G>C is a high-risk allele for breast cancer.

doi:10.1002/ijc.34305

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ATM c.7570G>C is a high-risk allele for breast cancer.

International journal of cancer - 1 Feb 2023

Kankuri-Tammilehto Minna, Tervasmäki Anna, Kraatari-Tiri Minna, Rahikkala Elisa, Pylkäs Katri, Kuismin Outi

Abstract excerpt

ATM is generally described as a moderate-risk breast cancer susceptibility gene. However, some of ATM variants might encounter higher risk. ATM c.7570G>C, p.Ala2524Pro, (rs769142993) is a pathogenic Finnish founder variant causative for recessively inherited ataxia-telangiectasia. At cellular level, it has been reported to have a dominant-negative effect. ATM c.7570G>C has recurrently been described in Finnish...

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PMID: 36161273
DOI: 10.1002/ijc.34305
PMCID: PMC10092731

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Source receipt: pubmed, retrieved 7 Sept 2026.

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