Association of melanoma with intraepithelial neoplasia of the pancreas in three patients

Autor(es)

Fidalgo, Felipe ^[1] ; Gomes, Elimar Elias ^[2] ; Facure, Luciana Moredo ^[2] ; Da Silva, Felipe Carneiro ^[1] ; Carraro, Dirce Maria ^[1] ; Soares de Sa, Bianca Costa ^[2] ; Duprat Neto, Joao Pedreira ^[2] ; Victorino Krepischi, Ana Cristina ^{[1, 3]}

Afiliação do(s) autor(es)

^[1] AC Camargo Canc Ctr, Int Res Ctr, Sao Paulo - Brazil

^[2] AC Camargo Canc Ctr, Dept Skin Canc, Sao Paulo - Brazil

^[3] Univ Sao Paulo, Dept Genet & Evolutionary Biol, BR-05508 Sao Paulo - Brazil

• Tipo de documento: Artigo Científico
• Fonte: Experimental and Molecular Pathology; v. 97, n. 1, p. 144-147, AUG 2014.
• Citações Web of Science: 2

Resumo

Melanoma and pancreatic cancer are two low frequency types of cancer. In this study, three patients who developed both melanoma and intraepithelial neoplasia of the pancreas were tested for CDKN2A mutations and deletions, and investigated for rare germline copy number variations (CNVs). The three patients were negative for CDKN2A point mutations and intragenic deletions. One of these patients carried two large (>300 kb) germline CNVs, both genomic duplications affecting coding sequences that are not copy number variable in the population. A second patient exhibited loss of the entire Y chromosome, an event probably coincidental related to his advanced age (79 years-old). Our data pinpoint that rare germline CNVs harboring genes can contribute to the cancer predisposition of melanoma and intraepithelial neoplasia of the pancreas. (C) 2014 The Authors. Published by Elsevier Inc. (AU)

• Processo FAPESP: 12/21932-6 - Investigação de fatores genéticos na etiologia da síndrome do melanoma familial: avaliação de copy number variation (CNV) e sequenciamento de exoma
• Beneficiário: Felipe Fidalgo de Carvalho
• Linha de fomento: Bolsas no Brasil - Doutorado
• Processo FAPESP: 13/07480-8 - Fatores genéticos e epigenéticos na etiologia do melanoma cutâneo
• Beneficiário: Ana Cristina Victorino Krepischi
• Linha de fomento: Auxílio à Pesquisa - Regular
• Processo FAPESP: 08/57887-9 - Instituto Nacional de Oncogenômica
• Beneficiário: Luiz Paulo Kowalski
• Linha de fomento: Auxílio à Pesquisa - Temático