{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,21]],"date-time":"2026-09-21T10:54:18Z","timestamp":1789988058196,"version":"4.0.1"},"reference-count":51,"publisher":"Wiley","issue":"8","license":[{"start":{"date-parts":[[2014,5,6]],"date-time":"2014-05-06T00:00:00Z","timestamp":1399334400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Genes Chromosomes &amp; Cancer"],"published-print":{"date-parts":[[2014,8]]},"abstract":"<jats:p>The DNA repair gene <jats:italic>MGMT<\/jats:italic> (O\u20106\u2010methylguanine\u2010DNA methyltransferase) is important for maintaining normal cell physiology and genomic stability. Alterations in <jats:italic>MGMT<\/jats:italic> play a critical role in the development of several types of cancer, including glioblastoma, lung cancer, and colorectal cancer. The purpose of this study was to explore the function of genetic alterations in <jats:italic>MGMT<\/jats:italic> and their connection with familial melanoma (FM). Using multiplex ligation\u2010dependent probe amplification, we identified a deletion that included the <jats:italic>MGMT<\/jats:italic> gene in one of 64 families with a melanoma predisposition living in western Sweden. The mutation segregated with the disease as a heterozygous deletion in blood\u2010derived DNA, but a homozygous deletion including the promoter region and exon 1 was seen in tumor tissue based on Affymetrix 500K and 6.0 arrays. By sequence analysis of the <jats:italic>MGMT<\/jats:italic> gene in the other 63 families with FM from western Sweden, we identified four common polymorphisms, nonfunctional, as predominantly described in previous studies. We conclude that inherited alterations in the <jats:italic>MGMT<\/jats:italic> gene might be a rare cause of FM, and we suggest that <jats:italic>MGMT<\/jats:italic> contributes to melanoma predisposition. \u00a9 2014 Wiley Periodicals, Inc.<\/jats:p>","DOI":"10.1002\/gcc.22180","type":"journal-article","created":{"date-parts":[[2014,5,6]],"date-time":"2014-05-06T14:54:10Z","timestamp":1399388050000},"page":"703-711","source":"Crossref","is-referenced-by-count":7,"title":["Deletion of the <i>MGMT<\/i> gene in familial melanoma"],"prefix":"10.1002","volume":"53","author":[{"given":"Frida","family":"Appelqvist","sequence":"first","affiliation":[{"name":"Department of Dermatology, Institute of Clinical Sciences Sahlgrenska University Hospital SE\u2010413 45 G\u00f6teborg Sweden"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Maria","family":"Yhr","sequence":"additional","affiliation":[{"name":"Department of Clinical Genetics, Institute of Biomedicine Sahlgrenska University Hospital SE\u2010413 45 G\u00f6teborg Sweden"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Anna","family":"Erlandson","sequence":"additional","affiliation":[{"name":"Department of Clinical Genetics, Institute of Biomedicine Sahlgrenska University Hospital SE\u2010413 45 G\u00f6teborg Sweden"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tommy","family":"Martinsson","sequence":"additional","affiliation":[{"name":"Department of Clinical Genetics, Institute of Biomedicine Sahlgrenska University Hospital SE\u2010413 45 G\u00f6teborg Sweden"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Charlotta","family":"Enerb\u00e4ck","sequence":"additional","affiliation":[{"name":"Department of Clinical and Experimental Medicine, Division of Cell Biology and Dermatology Link\u00f6ping University SE\u2010581 85 Link\u00f6ping Sweden"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2014,5,6]]},"reference":[{"key":"e_1_2_5_2_1","first-page":"6471","article-title":"Expression of the endogenous O6\u2010methylguanine\u2010DNA\u2010methyltransferase protects Chinese hamster ovary cells from spontaneous G:C to A:T transitions","volume":"52","author":"Aquilina G","year":"1992","journal-title":"Cancer Res"},{"key":"e_1_2_5_3_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1365-2133.1991.tb00424.x"},{"key":"e_1_2_5_4_1","doi-asserted-by":"publisher","DOI":"10.1038\/sj.ejhg.5200704"},{"key":"e_1_2_5_5_1","doi-asserted-by":"publisher","DOI":"10.1074\/jbc.272.30.18869"},{"key":"e_1_2_5_6_1","doi-asserted-by":"publisher","DOI":"10.1007\/s13277-013-0893-x"},{"key":"e_1_2_5_7_1","doi-asserted-by":"publisher","DOI":"10.1038\/bjc.1995.8"},{"key":"e_1_2_5_8_1","doi-asserted-by":"publisher","DOI":"10.1002\/humu.9078"},{"key":"e_1_2_5_9_1","doi-asserted-by":"publisher","DOI":"10.1038\/sj.ejhg.5200365"},{"key":"e_1_2_5_10_1","doi-asserted-by":"publisher","DOI":"10.1089\/109065703322783707"},{"key":"e_1_2_5_11_1","doi-asserted-by":"publisher","DOI":"10.1038\/sj.jid.5700718"},{"key":"e_1_2_5_12_1","first-page":"89","article-title":"Epigenetic mutations in CDKN2A in western Swedish families with hereditary malignant melanoma","volume":"1","author":"Erlandson A","year":"2008","journal-title":"Mol Med Report"},{"key":"e_1_2_5_13_1","volume-title":"GLOBOCAN 2008 v2.0, Cancer Incidence and Mortality Worldwide: IARC CancerBase No. 10 [Internet]","author":"Ferlay J","year":"2010"},{"key":"e_1_2_5_14_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.mrfmmm.2010.07.013"},{"key":"e_1_2_5_15_1","doi-asserted-by":"crossref","first-page":"1314","DOI":"10.1001\/jama.1992.03490100112037","article-title":"NIH Consensus conference. 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