{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,6,5]],"date-time":"2026-06-05T02:34:54Z","timestamp":1780626894161,"version":"3.54.1"},"reference-count":0,"publisher":"Termedia Sp. z.o.o.","issue":"5","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Arch Med Sci"],"published-print":{"date-parts":[[2021,8,26]]},"abstract":"Introduction<\/jats:title>The\u00a0inactivation of\u00a0both alleles of\u00a0the\u00a0ATM gene leads to ataxia-telangiectasia syndrome, whereas carriers of\u00a0monoallelic mutations in the\u00a0ATM gene are associated with increased risk of\u00a0different types of\u00a0cancer. Three substitutions in the\u00a0ATM gene (c.6095G>A, c.7630-2A>C, c.5932G>T) are the\u00a0most common mutations causing ataxia-telangiectasia among Polish patients. The\u00a0aim of\u00a0this study was to determine whether these ATM mutations are associated with increased risk of\u00a0tobacco-related cancers.<\/jats:p><\/jats:sec>Material and methods<\/jats:title>783 Polish patients with tobacco-related cancers were included in the\u00a0study (468 with lung cancer, 153 with a\u00a0single laryngeal cancer, 86 with multiple primary tumors localized in the\u00a0larynx and 76 multiple primary tumors localized in the\u00a0head or neck). The\u00a0control group consisted of\u00a0464 healthy subjects from the\u00a0Polish population. Three ATM mutations \u2013 c.5932G>T, c.6095G>A, c.7630-2A>C \u2013 were tested among selected patients. Molecular analyses were performed using high resolution melting analysis and restriction fragment length polymorphism.<\/jats:p><\/jats:sec>Results<\/jats:title>In the\u00a0present study, we detected only one mutation, c.7630-2A>C, and no carriers of\u00a0c.5932G>T, c.6095G>A mutations in the\u00a0ATM gene among Polish patients with tobacco-related cancers. A\u00a0patient with c.7630-2A>C mutation was diagnosed with lung adenocarcinoma, the\u00a0most common type of\u00a0lung cancer. One carrier of\u00a0c.6095G>A mutation was found in the\u00a0control group.<\/jats:p><\/jats:sec>Conclusions<\/jats:title>The\u00a0results indicate that the\u00a0studied ATM variants do not seem to be associated with tobacco-related cancers in Poland.<\/jats:p><\/jats:sec>","DOI":"10.5114\/aoms.2020.94155","type":"journal-article","created":{"date-parts":[[2020,5,22]],"date-time":"2020-05-22T14:10:20Z","timestamp":1590156620000},"page":"1158-1163","source":"Crossref","is-referenced-by-count":3,"title":["The most frequent Polish ATM mutations are not susceptibility factors for tobacco-related cancers"],"prefix":"10.5114","volume":"17","author":[{"given":"Marta","family":"Podralska","sequence":"first","affiliation":[{"name":"Institute of Human Genetics, Polish Academy of Sciences, Poznan, Poland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Agnieszka","family":"Dzikiewicz-Krawczyk","sequence":"additional","affiliation":[{"name":"Institute of Human Genetics, Polish Academy of Sciences, Poznan, Poland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Maria","family":"Mosor","sequence":"additional","affiliation":[{"name":"Institute of Human Genetics, Polish Academy of Sciences, Poznan, Poland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Magdalena","family":"\u017burawek","sequence":"additional","affiliation":[{"name":"Institute of Human Genetics, Polish Academy of Sciences, Poznan, Poland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Katarzyna","family":"I\u017cykowska","sequence":"additional","affiliation":[{"name":"Institute of Human Genetics, Polish Academy of Sciences, Poznan, Poland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ryszard","family":"S\u0142omski","sequence":"additional","affiliation":[{"name":"Institute of Human Genetics, Polish Academy of Sciences, Poznan, Poland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ma\u0142gorzata","family":"Rydzanicz","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics, Medical University of Warsaw, Warsaw, Poland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Piotr","family":"Gabryel","sequence":"additional","affiliation":[{"name":"Department of Thoracic Surgery, University of Medical Sciences, Poznan, Poland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Wojciech","family":"Dyszkiewicz","sequence":"additional","affiliation":[{"name":"Department of Thoracic Surgery, University of Medical Sciences, Poznan, Poland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Iwona","family":"Zi\u00f3\u0142kowska-Suchanek","sequence":"additional","affiliation":[{"name":"Institute of Human Genetics, Polish Academy of Sciences, Poznan, Poland"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"3061","published-online":{"date-parts":[[2021,8,26]]},"container-title":["Archives of Medical Science"],"original-title":[],"link":[{"URL":"https:\/\/www.archivesofmedicalscience.com\/pdf-97840-68033","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/www.archivesofmedicalscience.com\/pdf-97840-68033","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2021,9,8]],"date-time":"2021-09-08T11:32:40Z","timestamp":1631100760000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.archivesofmedicalscience.com\/The-most-frequent-Polish-ATM-mutations-are-not-susceptibility-factors-for-tobacco,97840,0,2.html"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2021,8,26]]},"references-count":0,"journal-issue":{"issue":"5","published-print":{"date-parts":[[2021]]}},"alternative-id":["97840"],"URL":"https:\/\/doi.org\/10.5114\/aoms.2020.94155","relation":{},"ISSN":["1734-1922","1896-9151"],"issn-type":[{"value":"1734-1922","type":"print"},{"value":"1896-9151","type":"electronic"}],"subject":[],"published":{"date-parts":[[2021,8,26]]}}}