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

Author(s)

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]}

Affiliation

^[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

• Document type: Journal article
• Source: Experimental and Molecular Pathology; v. 97, n. 1, p. 144-147, AUG 2014.
• Web of Science Citations: 2

Abstract

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)

• FAPESP's process: 13/07480-8 - Genetic and epigenetic factors in the etiology of the cutaneous melanoma
• Grantee: Ana Cristina Victorino Krepischi
• Support Opportunities: Regular Research Grants
• FAPESP's process: 12/21932-6 - Investigation of genetic factors on etiology of familial melanoma syndrome: evaluation of copy number variation (CNV) and exome sequencing
• Grantee: Felipe Fidalgo de Carvalho
• Support Opportunities: Scholarships in Brazil - Doctorate
• FAPESP's process: 08/57887-9 - National Institute of Oncogenomics
• Grantee: Luiz Paulo Kowalski
• Support Opportunities: Research Projects - Thematic Grants