Detection of a tumor suppressor gene variant predisposing to colorectal cancer in an 18th century hungarian mummy

Michal Feldman, Israel Hershkovitz, Ella H. Sklan, Gila Kahila Bar-Gal, Ildikó Pap, Ildikó Szikossy, Rina Rosin-Arbesfeld

Research output: Contribution to journalReview articlepeer-review

13 Scopus citations

Abstract

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 18th 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 18th 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.

Original languageAmerican English
Article numbere0147217
JournalPLoS ONE
Volume11
Issue number2
DOIs
StatePublished - Feb 2016

Bibliographical note

Publisher Copyright:
Copyright © 2016 Feldman et al. This is an open access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited.

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