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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...
Autores principales: | , , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Public Library of Science
2016
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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. |
format | Online Article Text |
id | pubmed-4749341 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2016 |
publisher | Public Library of Science |
record_format | MEDLINE/PubMed |
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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