University of Oulu

Kankuri-Tammilehto, M, Tervasmäki, A, Kraatari-Tiri, M, Rahikkala, E, Pylkäs, K, Kuismin, O. ATM c.7570G>C is a high-risk allele for breast cancer. Int J Cancer. 2023; 152( 3): 429- 435. doi:10.1002/ijc.34305

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

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Author: Kankuri-Tammilehto, Minna1,2; Tervasmäki, Anna3; Kraatari-Tiri, Minna4,5;
Organizations: 1Department of Clinical Genetics, Turku University Hospital, Turku, Finland
2Institute of Biomedicine, University of Turku, Turku, Finland
3Laboratory of Cancer Genetics and Tumor Biology, Biocenter Oulu, University of Oulu, Oulu, Finland
4Department of Clinical Genetics, Oulu University Hospital, Oulu, Finland
5PEDEGO Research Unit and Medical Research Center Oulu, Oulu University Hospital and University of Oulu, Oulu, Finland
6Northern Finland Laboratory Centre Oulu, Oulu, Finland
Format: article
Version: published version
Access: open
Online Access: PDF Full Text (PDF, 0.5 MB)
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Language: English
Published: John Wiley & Sons, 2022
Publish Date: 2022-11-24


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 breast cancer families and unselected case cohorts collected from different parts of the country, but the rarity of the allele (MAF 0.0002772 in Finns) and lack of confirming segregation analyses have prevented any conclusive risk estimates. Here, we describe seven families from genetic counseling units with ATM c.7570G>C variant showing co-segregation with breast cancer. Further analysis of the unselected breast cancer cohort from Northern Finland (n = 1822), a geographical region previously indicated to have enrichment of the variant, demonstrated that c.7570G>C significantly associates with breast cancer, and the risk is estimated as high (odds ratio [OR] = 8.5, 95% confidence interval [CI] = 1.04-62.46, P = .018). Altogether, these results place ATM c.7570G>C variant among the high-risk alleles for breast cancer, which should be taken into consideration in genetic counseling.

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Series: International journal of cancer
ISSN: 0020-7136
ISSN-E: 1097-0215
ISSN-L: 0020-7136
Volume: 152
Issue: 3
Pages: 429 - 435
DOI: 10.1002/ijc.34305
Type of Publication: A1 Journal article – refereed
Field of Science: 1184 Genetics, developmental biology, physiology
3122 Cancers
Funding: This work was supported by the Academy of Finland, the Cancer Foundation of Finland sr and the Sigrid Jusélius Foundation sr (for Katri Pylkäs).
Copyright information: © 2022 The Authors. International Journal of Cancer published by John Wiley & Sons Ltd on behalf of UICC. This is an open access article under the terms of the Creative Commons Attribution-NonCommercial License, which permits use, distribution and reproduction in any medium, provided the original work is properly cited and is not used for commercial purposes.