title: Association of melanoma with intraepithelial neoplasia of the pancreas in three patients.
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.
authors.affiliation: International Research Center, AC Camargo Cancer Center, São Paulo, Brazil.
authors.forename: Felipe
authors.initials: F
authors.lastname: Fidalgo
authors.affiliation: Department of Skin Cancer, AC Camargo Cancer Center, São Paulo, Brazil.
authors.forename: Elimar Elias
authors.initials: EE
authors.lastname: Gomes
authors.affiliation: Department of Skin Cancer, AC Camargo Cancer Center, São Paulo, Brazil.
authors.forename: Luciana
authors.initials: L
authors.lastname: Moredo Facure
authors.affiliation: International Research Center, AC Camargo Cancer Center, São Paulo, Brazil.
authors.forename: Felipe Carneiro
authors.initials: FC
authors.lastname: Da Silva
authors.affiliation: International Research Center, AC Camargo Cancer Center, São Paulo, Brazil.
authors.forename: Dirce Maria
authors.initials: DM
authors.lastname: Carraro
authors.affiliation: Department of Skin Cancer, AC Camargo Cancer Center, São Paulo, Brazil.
authors.forename: Bianca Costa Soares
authors.initials: BC
authors.lastname: de Sá
authors.affiliation: Department of Skin Cancer, AC Camargo Cancer Center, São Paulo, Brazil.
authors.forename: João Pedreira
authors.initials: JP
authors.lastname: Duprat Neto
authors.affiliation: International Research Center, AC Camargo Cancer Center, São Paulo, Brazil; Department of Genetics and Evolutionary Biology, University of São Paulo, Brazil. Electronic address: ana.krepischi@gmail.com.
authors.forename: Ana Cristina Victorino
authors.initials: AC
authors.lastname: Krepischi
mesh_terms: D000368:Aged; D000369:Aged, 80 and over; D002872:Chromosome Deletion; D041322:Chromosomes, Human, Y; D019941:Cyclin-Dependent Kinase Inhibitor p16 / Q000235:genetics*; D056915:DNA Copy Number Variations; D004847:Epithelial Cells / Q000473:pathology; D020022:Genetic Predisposition to Disease; D006801:Humans; D008297:Male; D008545:Melanoma / Q000235:genetics*; D009154:Mutation; D010190:Pancreatic Neoplasms / Q000235:genetics* / Q000473:pathology; D017354:Point Mutation
chemical_list: D019941:Cyclin-Dependent Kinase Inhibitor p16
keywords: CNV; Germline copy number variation; Intraepithelial neoplasia of pancreas; Melanoma; Pancreatic cancer