{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,1,1]],"date-time":"2026-01-01T03:07:18Z","timestamp":1767236838866,"version":"3.40.5"},"reference-count":32,"publisher":"Wiley","issue":"3","license":[{"start":{"date-parts":[[2022,10,6]],"date-time":"2022-10-06T00:00:00Z","timestamp":1665014400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc\/4.0\/"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Intl Journal of Cancer"],"published-print":{"date-parts":[[2023,2]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p><jats:italic>ATM<\/jats:italic> is generally described as a moderate\u2010risk breast cancer susceptibility gene. However, some of <jats:italic>ATM<\/jats:italic> variants might encounter higher risk. <jats:italic>ATM<\/jats:italic> c.7570G&gt;C, p.Ala2524Pro, (rs769142993) is a pathogenic Finnish founder variant causative for recessively inherited ataxia\u2010telangiectasia. At cellular level, it has been reported to have a dominant\u2010negative effect. <jats:italic>ATM<\/jats:italic> c.7570G&gt;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 <jats:italic>ATM<\/jats:italic> c.7570G&gt;C variant showing co\u2010segregation with breast cancer. Further analysis of the unselected breast cancer cohort from Northern Finland (n\u00a0=\u00a01822), a geographical region previously indicated to have enrichment of the variant, demonstrated that c.7570G&gt;C significantly associates with breast cancer, and the risk is estimated as high (odds ratio [OR]\u00a0=\u00a08.5, 95% confidence interval [CI]\u00a0=\u00a01.04\u201062.46, <jats:italic>P<\/jats:italic>\u00a0=\u00a0.018). Altogether, these results place <jats:italic>ATM<\/jats:italic> c.7570G&gt;C variant among the high\u2010risk alleles for breast cancer, which should be taken into consideration in genetic counseling.<\/jats:p>","DOI":"10.1002\/ijc.34305","type":"journal-article","created":{"date-parts":[[2022,9,26]],"date-time":"2022-09-26T10:33:39Z","timestamp":1664188419000},"page":"429-435","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":4,"title":["<scp>ATM<\/scp> c.<scp>7570G<\/scp>&gt;C is a high\u2010risk allele for breast cancer"],"prefix":"10.1002","volume":"152","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-4276-2970","authenticated-orcid":false,"given":"Minna","family":"Kankuri\u2010Tammilehto","sequence":"first","affiliation":[{"name":"Department of Clinical Genetics Turku University Hospital  Turku Finland"},{"name":"Institute of Biomedicine, University of Turku  Turku 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Finland"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-2449-0521","authenticated-orcid":false,"given":"Katri","family":"Pylk\u00e4s","sequence":"additional","affiliation":[{"name":"Laboratory of Cancer Genetics and Tumor Biology, Biocenter Oulu University of Oulu  Oulu Finland"},{"name":"Northern Finland Laboratory Centre Oulu  Oulu Finland"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Outi","family":"Kuismin","sequence":"additional","affiliation":[{"name":"Department of Clinical Genetics Oulu University Hospital  Oulu Finland"},{"name":"PEDEGO Research Unit and Medical Research Center Oulu Oulu University Hospital and University of Oulu  Oulu 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