Association of melanoma with intraepithelial neoplasia of the pancreas in three patients
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 pa...
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| Veröffentlicht in: | Experimental and molecular pathology 2014-08, Vol.97 (1), p.144-147 |
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| creator | Fidalgo, Felipe Gomes, Elimar Elias Moredo Facure, Luciana Da Silva, Felipe Carneiro Carraro, Dirce Maria de Sá, Bianca Costa Soares Duprat Neto, João Pedreira Krepischi, Ana Cristina Victorino |
| description | 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 (>300kb) 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 (79years-old). Our data pinpoint that rare germline CNVs harboring genes can contribute to the cancer predisposition of melanoma and intraepithelial neoplasia of the pancreas. |
| doi_str_mv | 10.1016/j.yexmp.2014.06.013 |
| format | Article |
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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 (>300kb) 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 (79years-old). Our data pinpoint that rare germline CNVs harboring genes can contribute to the cancer predisposition of melanoma and intraepithelial neoplasia of the pancreas.</description><identifier>ISSN: 0014-4800</identifier><identifier>EISSN: 1096-0945</identifier><identifier>DOI: 10.1016/j.yexmp.2014.06.013</identifier><identifier>PMID: 24984283</identifier><language>eng</language><publisher>Netherlands: Elsevier Inc</publisher><subject>Aged ; Aged, 80 and over ; Chromosome Deletion ; Chromosomes, Human, Y ; CNV ; Cyclin-Dependent Kinase Inhibitor p16 - genetics ; DNA Copy Number Variations ; Epithelial Cells - pathology ; Genetic Predisposition to Disease ; Germline copy number variation ; Humans ; Intraepithelial neoplasia of pancreas ; Male ; Melanoma ; Melanoma - genetics ; Mutation ; Pancreatic cancer ; Pancreatic Neoplasms - genetics ; Pancreatic Neoplasms - pathology ; Point Mutation</subject><ispartof>Experimental and molecular pathology, 2014-08, Vol.97 (1), p.144-147</ispartof><rights>2014 The Authors</rights><rights>Copyright © 2014. 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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 (>300kb) 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 (79years-old). Our data pinpoint that rare germline CNVs harboring genes can contribute to the cancer predisposition of melanoma and intraepithelial neoplasia of the pancreas.</description><subject>Aged</subject><subject>Aged, 80 and over</subject><subject>Chromosome Deletion</subject><subject>Chromosomes, Human, Y</subject><subject>CNV</subject><subject>Cyclin-Dependent Kinase Inhibitor p16 - genetics</subject><subject>DNA Copy Number Variations</subject><subject>Epithelial Cells - pathology</subject><subject>Genetic Predisposition to Disease</subject><subject>Germline copy number variation</subject><subject>Humans</subject><subject>Intraepithelial neoplasia of pancreas</subject><subject>Male</subject><subject>Melanoma</subject><subject>Melanoma - genetics</subject><subject>Mutation</subject><subject>Pancreatic cancer</subject><subject>Pancreatic Neoplasms - genetics</subject><subject>Pancreatic Neoplasms - pathology</subject><subject>Point Mutation</subject><issn>0014-4800</issn><issn>1096-0945</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2014</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><recordid>eNp9kDtPwzAQgC0EoqXwC5BQRpaEc-w8PDBUFS8JiQUkNstxLsJVEgc7BfrvcWhhZPHZd9_5dB8h5xQSCjS_Widb_OqGJAXKE8gToOyAzCmIPAbBs0Myh1CJeQkwIyferwFAAE2PySzlouRpyebkdem91UaNxvaRbaIOW9XbTkWfZnyLTD86hUO4YmtUG_Voh1Z5oyY0JKNB9dqh8oEMb4dTZjTYj_6UHDWq9Xi2jwvycnvzvLqPH5_uHlbLx1hz4GOcZzmWlc4qIbKiwJxhpQB1kzaqBsWqjCMXOdWsCIeGQmjOS6V5RislStRsQS53_w7Ovm_Qj7IzXmMb1kC78ZJmWcoKyigNKNuh2lnvHTZycKZTbispyEmpXMsfpXJSKiGXQWnoutgP2FQd1n89vw4DcL0DMKz5YdBJr4MCjbVxqEdZW_PvgG-od4pB</recordid><startdate>20140801</startdate><enddate>20140801</enddate><creator>Fidalgo, Felipe</creator><creator>Gomes, Elimar Elias</creator><creator>Moredo Facure, Luciana</creator><creator>Da Silva, Felipe Carneiro</creator><creator>Carraro, Dirce Maria</creator><creator>de Sá, Bianca Costa Soares</creator><creator>Duprat Neto, João Pedreira</creator><creator>Krepischi, Ana Cristina Victorino</creator><general>Elsevier Inc</general><scope>6I.</scope><scope>AAFTH</scope><scope>CGR</scope><scope>CUY</scope><scope>CVF</scope><scope>ECM</scope><scope>EIF</scope><scope>NPM</scope><scope>AAYXX</scope><scope>CITATION</scope><scope>7X8</scope></search><sort><creationdate>20140801</creationdate><title>Association of melanoma with intraepithelial neoplasia of the pancreas in three patients</title><author>Fidalgo, Felipe ; 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| subjects | Aged Aged, 80 and over Chromosome Deletion Chromosomes, Human, Y CNV Cyclin-Dependent Kinase Inhibitor p16 - genetics DNA Copy Number Variations Epithelial Cells - pathology Genetic Predisposition to Disease Germline copy number variation Humans Intraepithelial neoplasia of pancreas Male Melanoma Melanoma - genetics Mutation Pancreatic cancer Pancreatic Neoplasms - genetics Pancreatic Neoplasms - pathology Point Mutation |
| title | Association of melanoma with intraepithelial neoplasia of the pancreas in three patients |
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