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The CDKN2A p.A148T variant is associated with cutaneous melanoma in Southern Brazil
2011; Wiley; Volume: 20; Issue: 11 Linguagem: Inglês
10.1111/j.1600-0625.2011.01332.x
ISSN1600-0625
AutoresRenato Marchiori Bakos, Robert Besch, Gabriela G. Zoratto, Janaína M. Godinho, Nicolle Gollo Mazzotti, Thomas Ruzicka, Lúcio Bakos, Sidney Emanuel Batista dos Santos, Patrícia Ashton‐Prolla, Carola Berking, Roberto Giugliani,
Tópico(s)Immunotherapy and Immune Responses
ResumoExperimental DermatologyVolume 20, Issue 11 p. 890-893 Original Article The CDKN2A p.A148T variant is associated with cutaneous melanoma in Southern Brazil Renato M. Bakos, Renato M. Bakos Dermatology Service, Hospital de Clínicas de Porto Alegre (HCPA), Brazil Authors contributed equally for this work.Search for more papers by this authorRobert Besch, Robert Besch Department of Dermatology, Ludwig-Maximilian University of Munich, Germany Authors contributed equally for this work.Search for more papers by this authorGabriela G. Zoratto, Gabriela G. Zoratto Dermatology Service, Hospital de Clínicas de Porto Alegre (HCPA), BrazilSearch for more papers by this authorJanaína M. Godinho, Janaína M. Godinho Dermatology Service, Hospital de Clínicas de Porto Alegre (HCPA), BrazilSearch for more papers by this authorNicolle G. Mazzotti, Nicolle G. Mazzotti Dermatology Service, Hospital de Clínicas de Porto Alegre (HCPA), BrazilSearch for more papers by this authorThomas Ruzicka, Thomas Ruzicka Department of Dermatology, Ludwig-Maximilian University of Munich, GermanySearch for more papers by this authorLucio Bakos, Lucio Bakos Dermatology Service, Hospital de Clínicas de Porto Alegre (HCPA), BrazilSearch for more papers by this authorSidney E. Santos, Sidney E. Santos Laboratory of Human and Medical Genetics, Universidade Federal do Pará (UFPA), Belém, BrazilSearch for more papers by this authorPatricia Ashton-Prolla, Patricia Ashton-Prolla Department of Genetics, UFRGS; Experimental Research Center and Medical Genetics Service, HCPA, Porto Alegre, Brazil INAGEMP, Instituto Nacional de Genética Médica Populacional, Porto Alegre, Brazil.Search for more papers by this authorCarola Berking, Carola Berking Department of Dermatology, Ludwig-Maximilian University of Munich, Germany Senior authors contributed equally for this work.Search for more papers by this authorRoberto Giugliani, Roberto Giugliani Department of Genetics, UFRGS; Experimental Research Center and Medical Genetics Service, HCPA, Porto Alegre, Brazil INAGEMP, Instituto Nacional de Genética Médica Populacional, Porto Alegre, Brazil. Senior authors contributed equally for this work.Search for more papers by this author Renato M. Bakos, Renato M. Bakos Dermatology Service, Hospital de Clínicas de Porto Alegre (HCPA), Brazil Authors contributed equally for this work.Search for more papers by this authorRobert Besch, Robert Besch Department of Dermatology, Ludwig-Maximilian University of Munich, Germany Authors contributed equally for this work.Search for more papers by this authorGabriela G. Zoratto, Gabriela G. Zoratto Dermatology Service, Hospital de Clínicas de Porto Alegre (HCPA), BrazilSearch for more papers by this authorJanaína M. Godinho, Janaína M. Godinho Dermatology Service, Hospital de Clínicas de Porto Alegre (HCPA), BrazilSearch for more papers by this authorNicolle G. Mazzotti, Nicolle G. Mazzotti Dermatology Service, Hospital de Clínicas de Porto Alegre (HCPA), BrazilSearch for more papers by this authorThomas Ruzicka, Thomas Ruzicka Department of Dermatology, Ludwig-Maximilian University of Munich, GermanySearch for more papers by this authorLucio Bakos, Lucio Bakos Dermatology Service, Hospital de Clínicas de Porto Alegre (HCPA), BrazilSearch for more papers by this authorSidney E. Santos, Sidney E. Santos Laboratory of Human and Medical Genetics, Universidade Federal do Pará (UFPA), Belém, BrazilSearch for more papers by this authorPatricia Ashton-Prolla, Patricia Ashton-Prolla Department of Genetics, UFRGS; Experimental Research Center and Medical Genetics Service, HCPA, Porto Alegre, Brazil INAGEMP, Instituto Nacional de Genética Médica Populacional, Porto Alegre, Brazil.Search for more papers by this authorCarola Berking, Carola Berking Department of Dermatology, Ludwig-Maximilian University of Munich, Germany Senior authors contributed equally for this work.Search for more papers by this authorRoberto Giugliani, Roberto Giugliani Department of Genetics, UFRGS; Experimental Research Center and Medical Genetics Service, HCPA, Porto Alegre, Brazil INAGEMP, Instituto Nacional de Genética Médica Populacional, Porto Alegre, Brazil. Senior authors contributed equally for this work.Search for more papers by this author First published: 25 June 2011 https://doi.org/10.1111/j.1600-0625.2011.01332.xCitations: 15 Dr Patricia Ashton-Prolla, MD, PhD, Medical Genetics Service – HCPA, Rua Ramiro Barcellos, 2350 – CEP 90035-903, Porto Alegre, RS, Brazil, Tel.: +55 51 3359 8011, Fax: +55 51 3359 8010, e-mail: pprolla@hcpa.ufrgs.br This work was carried out in Munich, Germany, in Porto Alegre, RS and Belém, PA, Brazil. Read the full textAboutPDF ToolsRequest permissionExport citationAdd to favoritesTrack citation ShareShare Give accessShare full text accessShare full-text accessPlease review our Terms and Conditions of Use and check box below to share full-text version of article.I have read and accept the Wiley Online Library Terms and Conditions of UseShareable LinkUse the link below to share a full-text version of this article with your friends and colleagues. Learn more.Copy URL Share a linkShare onFacebookTwitterLinked InRedditWechat Abstract Abstract: Several germline mutations and sequence variants in cancer predisposition genes have been described. Among these, the CDKN2A p.A148T variant appears to be frequent in patients with melanoma, at least in certain ethnic groups. In this case–control study, we evaluated 127 patients with cutaneous melanoma and 128 controls from Southern Brazil, the region with the highest melanoma incidence rates in the country. Using PCR–RFLP, we demonstrate that CDKN2A p.A148T variant was significantly more frequent in patients with melanoma than in controls (12.6% vs 3.9%; P = 0.009). There was no association between presence of the polymorphism and tumor thickness, site of the primary tumor, melanoma subtype, age at diagnosis, quantitative and qualitative number of nevi. Patients with a positive family of history for other cancers were particularly prone to carry the CDKN2A p.A148T allele. All patients with p.A148T-positive melanoma reported European ancestry, especially German, and this was confirmed using a panel of ancestry-informative INDELs. Our data suggest that CDKN2A p.A148T is a melanoma susceptibility allele in Southern Brazil and is particularly common in patients with melanoma of predominantly European ancestry. Citing Literature Supporting Information Table S1. Reported and Genetic ethnic background of p.A148T-positive cases. Filename Description EXD_1332_sm_TableS1.xls25.3 KB Supporting info item Please note: The publisher is not responsible for the content or functionality of any supporting information supplied by the authors. Any queries (other than missing content) should be directed to the corresponding author for the article. Volume20, Issue11November 2011Pages 890-893 RelatedInformation
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