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DOI:	10.1371/journal.pone.0147217
论文题名:	Detection of a Tumor Suppressor Gene Variant Predisposing to Colorectal Cancer in an 18th Century Hungarian Mummy
作者:	Michal Feldman; Israel Hershkovitz; Ella H. Sklan; Gila Kahila Bar-Gal; Ildikó Pap; Ildikó Szikossy; Rina Rosin-Arbesfeld
刊名:	PLOS ONE
ISSN:	1932-6203
出版年:	2016
发表日期:	2016-2-10
卷:	11, 期:2
语种:	英语
英文关键词:	Antigen-presenting cells ; Colorectal cancer ; Colon ; Mitochondria ; Paleogenetics ; Ancient DNA ; Somatic mutation ; DNA extraction
英文摘要:	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.
URL:	http://journals.plos.org/plosone/article/file?id=10.1371/journal.pone.0147217&type=printable
Citation statistics:
资源类型:	期刊论文
标识符:	http://119.78.100.158/handle/2HF3EXSE/23344
Appears in Collections:	过去全球变化的重建影响、适应和脆弱性科学计划与规划气候变化与战略全球变化的国际研究计划气候减缓与适应气候变化事实与影响

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journal.pone.0147217.PDF（693KB）	期刊论文	作者接受稿	开放获取	CC BY-NC-SA	View Download

作者单位:

Department of Anatomy and Anthropology, Sackler Faculty of Medicine, Tel-Aviv University, Tel-Aviv, Israel;Department of Anatomy and Anthropology, Sackler Faculty of Medicine, Tel-Aviv University, Tel-Aviv, Israel;Department of Clinical Microbiology and Immunology, Sackler Faculty of Medicine, Tel-Aviv University, Tel-Aviv, Israel;Koret School of Veterinary Medicine, The Robert H. Smith faculty of Agriculture, Food and Environment, The Hebrew University of Jerusalem, Rehovot, Israel;Department of Anthropology, Hungarian Natural History Museum, Budapest, Hungary;Department of Anthropology, Hungarian Natural History Museum, Budapest, Hungary;Department of Clinical Microbiology and Immunology, Sackler Faculty of Medicine, Tel-Aviv University, Tel-Aviv, Israel

Recommended Citation:

Michal Feldman,Israel Hershkovitz,Ella H. Sklan,et al. Detection of a Tumor Suppressor Gene Variant Predisposing to Colorectal Cancer in an 18th Century Hungarian Mummy[J]. PLOS ONE,2016-01-01,11(2)

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