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Detection of a Tumor Suppressor Gene Variant Predisposing to Colorectal Cancer in an 18th Century Hungarian Mummy

Mutations of the Adenomatous polyposis coli (APC) gene are common and strongly associated with the development of colorectal adenomas and carcinomas. While extensively studied in modern populations, reports on visceral tumors in ancient populations are scarce. To the best of our knowledge, genetic c...

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Autores principales: Feldman, Michal, Hershkovitz, Israel, Sklan, Ella H., Kahila Bar-Gal, Gila, Pap, Ildikó, Szikossy, Ildikó, Rosin-Arbesfeld, Rina
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Public Library of Science 2016
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4749341/
https://www.ncbi.nlm.nih.gov/pubmed/26863316
http://dx.doi.org/10.1371/journal.pone.0147217
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author Feldman, Michal
Hershkovitz, Israel
Sklan, Ella H.
Kahila Bar-Gal, Gila
Pap, Ildikó
Szikossy, Ildikó
Rosin-Arbesfeld, Rina
author_facet Feldman, Michal
Hershkovitz, Israel
Sklan, Ella H.
Kahila Bar-Gal, Gila
Pap, Ildikó
Szikossy, Ildikó
Rosin-Arbesfeld, Rina
author_sort Feldman, Michal
collection PubMed
description Mutations of the Adenomatous polyposis coli (APC) gene are common and strongly associated with the development of colorectal adenomas and carcinomas. While extensively studied in modern populations, reports on visceral tumors in ancient populations are scarce. To the best of our knowledge, genetic characterization of mutations associated with colorectal cancer in ancient specimens has not yet been described. In this study we have sequenced hotspots for mutations in the APC gene isolated from 18(th) century naturally preserved human Hungarian mummies. While wild type APC sequences were found in two mummies, we discovered the E1317Q missense mutation, known to be a colorectal cancer predisposing mutation, in a large intestine tissue of an 18(th) century mummy. Our data suggests that this genetic predisposition to cancer already existed in the pre-industrialization era. This study calls for similar investigations of ancient specimens from different periods and geographical locations to be conducted and shared for the purpose of obtaining a larger scale analysis that will shed light on past cancer epidemiology and on cancer evolution.
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spelling pubmed-47493412016-02-26 Detection of a Tumor Suppressor Gene Variant Predisposing to Colorectal Cancer in an 18th Century Hungarian Mummy Feldman, Michal Hershkovitz, Israel Sklan, Ella H. Kahila Bar-Gal, Gila Pap, Ildikó Szikossy, Ildikó Rosin-Arbesfeld, Rina PLoS One Research Article Mutations of the Adenomatous polyposis coli (APC) gene are common and strongly associated with the development of colorectal adenomas and carcinomas. While extensively studied in modern populations, reports on visceral tumors in ancient populations are scarce. To the best of our knowledge, genetic characterization of mutations associated with colorectal cancer in ancient specimens has not yet been described. In this study we have sequenced hotspots for mutations in the APC gene isolated from 18(th) century naturally preserved human Hungarian mummies. While wild type APC sequences were found in two mummies, we discovered the E1317Q missense mutation, known to be a colorectal cancer predisposing mutation, in a large intestine tissue of an 18(th) century mummy. Our data suggests that this genetic predisposition to cancer already existed in the pre-industrialization era. This study calls for similar investigations of ancient specimens from different periods and geographical locations to be conducted and shared for the purpose of obtaining a larger scale analysis that will shed light on past cancer epidemiology and on cancer evolution. Public Library of Science 2016-02-10 /pmc/articles/PMC4749341/ /pubmed/26863316 http://dx.doi.org/10.1371/journal.pone.0147217 Text en © 2016 Feldman et al http://creativecommons.org/licenses/by/4.0/ This is an open access article distributed under the terms of the Creative Commons Attribution License (http://creativecommons.org/licenses/by/4.0/) , which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited.
spellingShingle Research Article
Feldman, Michal
Hershkovitz, Israel
Sklan, Ella H.
Kahila Bar-Gal, Gila
Pap, Ildikó
Szikossy, Ildikó
Rosin-Arbesfeld, Rina
Detection of a Tumor Suppressor Gene Variant Predisposing to Colorectal Cancer in an 18th Century Hungarian Mummy
title Detection of a Tumor Suppressor Gene Variant Predisposing to Colorectal Cancer in an 18th Century Hungarian Mummy
title_full Detection of a Tumor Suppressor Gene Variant Predisposing to Colorectal Cancer in an 18th Century Hungarian Mummy
title_fullStr Detection of a Tumor Suppressor Gene Variant Predisposing to Colorectal Cancer in an 18th Century Hungarian Mummy
title_full_unstemmed Detection of a Tumor Suppressor Gene Variant Predisposing to Colorectal Cancer in an 18th Century Hungarian Mummy
title_short Detection of a Tumor Suppressor Gene Variant Predisposing to Colorectal Cancer in an 18th Century Hungarian Mummy
title_sort detection of a tumor suppressor gene variant predisposing to colorectal cancer in an 18th century hungarian mummy
topic Research Article
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4749341/
https://www.ncbi.nlm.nih.gov/pubmed/26863316
http://dx.doi.org/10.1371/journal.pone.0147217
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