{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,7]],"date-time":"2026-10-07T06:57:54Z","timestamp":1791356274033,"version":"4.3.1"},"reference-count":36,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2004,9,23]],"date-time":"2004-09-23T00:00:00Z","timestamp":1095897600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"name":"Institut Gustave Roussy, Villejuif and Institut Curie, Paris"},{"DOI":"10.13039\/501100004099","name":"Ligue Nationale Contre le Cancer","doi-asserted-by":"crossref","id":[{"id":"10.13039\/501100004099","id-type":"DOI","asserted-by":"crossref"}]},{"name":"Comit\u00e9 des Hauts-de-Seine de la Ligue Contre le Cancer"},{"name":"Service de Radioprotection d'Electricit\u00e9 de France"},{"DOI":"10.13039\/501100001677","name":"INSERM","doi-asserted-by":"crossref","id":[{"id":"10.13039\/501100001677","id-type":"DOI","asserted-by":"crossref"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Genes Chromosomes &amp; Cancer"],"published-print":{"date-parts":[[2005,1]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Epidemiological studies have indicated that ataxia\u2010telangiectasia (AT) heterozygotes in AT families have an increased risk of cancer, particularly of breast cancer (BC). However, in BC case\u2013control studies, no significant differences were found in the frequency of <jats:italic>ATM<\/jats:italic> mutations between patients and controls. In such studies missense mutations were found more frequently than truncating mutations, suggesting that the cancer risk depends on mutation type. To investigate this possibility, we assessed the risk of BC according to the type and position of the <jats:italic>ATM<\/jats:italic> truncating mutation in extended AT families. DNA or RNA that had been isolated from blood or buccal cells of AT children and their relatives was screened for <jats:italic>ATM<\/jats:italic> germ\u2010line mutations using restriction endonuclease fingerprinting, the protein truncation test, fluorescence\u2010assisted mismatch analysis, and direct sequencing. The standardized incidence ratio of cancer associated with <jats:italic>ATM<\/jats:italic> heterozygosity status and type of mutation was estimated. We tested for genotype\u2013phenotype correlations by simulations, permuting mutations among parental branches. No significant difference was found in the relative risk of breast cancer or any other type of cancer based on mutation type. However, the occurrence of BC may be associated with truncating mutations in certain binding domains of the ATM protein (e.g., P53\/BRCA1, \u03b2\u2010adaptin, and FAT domains; <jats:italic>P<\/jats:italic> = 0.006). In this limited sample set, the presence of missense or truncating <jats:italic>ATM<\/jats:italic> mutations was not associated with different cancer risks. The risk of BC appeared to be associated with the alteration of binding domains rather than with the length of the predicted ATM protein. \u00a9 2004 Wiley\u2010Liss, Inc.<\/jats:p>","DOI":"10.1002\/gcc.20101","type":"journal-article","created":{"date-parts":[[2004,9,23]],"date-time":"2004-09-23T16:03:59Z","timestamp":1095955439000},"page":"1-9","source":"Crossref","is-referenced-by-count":57,"title":["Cancer risk according to type and location of <i>ATM<\/i> mutation in ataxia\u2010telangiectasia families"],"prefix":"10.1002","volume":"42","author":[{"given":"E.","family":"Cavaciuti","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"A.","family":"Laug\u00e9","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"N.","family":"Janin","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"K.","family":"Ossian","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"J.","family":"Hall","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"D.","family":"Stoppa\u2010Lyonnet","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"N.","family":"Andrieu","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2004,9,23]]},"reference":[{"key":"e_1_2_6_2_1","doi-asserted-by":"publisher","DOI":"10.1093\/oxfordjournals.aje.a117522"},{"key":"e_1_2_6_3_1","doi-asserted-by":"publisher","DOI":"10.1016\/S1383-5742(00)00034-X"},{"key":"e_1_2_6_4_1","doi-asserted-by":"publisher","DOI":"10.1038\/nature01368"},{"key":"e_1_2_6_5_1","volume-title":"Statistiques 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