NDLI: A case of Muir-Torre syndrome associated with mucinous hepatic cholangiocarcinoma and a novel germline mutation of the MSH2 gene

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A case of Muir-Torre syndrome associated with mucinous hepatic cholangiocarcinoma and a novel germline mutation of the MSH2 gene

Content Provider	Springer Nature Link
Author	Vernez, M. Hutter, P. Monnerat, C. Halkic, N. Gugerli, O. Bouzourene, H.
Copyright Year	2006
Abstract	Muir-Torre syndrome (MTS) is a rare cancer-predisposing syndrome that is autosomal dominantly inherited and characterized by the development of sebaceous skin lesions (adenomas, epitheliomas, basaliomas and carcinomas). These lesions are typically associated with tumors that belong to the spectrum of hereditary nonpolyposis colorectal cancer (HNPCC) (i.e. tumors of the colorectum, endometrium, stomach or ovary). Biliary malignancy in association with MTS has only rarely been reported. We report a case of Muir-Torre syndrome associated with intrahepatic cholangiocarcinoma, a location not previously described, and associated with a novel missense mutation of the MSH2 gene (c.2026T > C), predicted to disrupt the function of the gene.
Starting Page	141
Ending Page	145
Page Count	5
File Format	PDF
ISSN	13899600
Journal	Familial Cancer
Volume Number	6
Issue Number	1
e-ISSN	15737292
Language	English
Publisher	Kluwer Academic Publishers
Publisher Date	2006-10-19
Publisher Place	Dordrecht
Access Restriction	One Nation One Subscription (ONOS)
Subject Keyword	Cholangiocarcinoma HNPCC Muir-Torre syndrome MSH2 Sebaceous epithelioma Epidemiology Human Genetics Oncology
Content Type	Text
Resource Type	Article
Subject	Genetics Cancer Research Genetics (clinical) Oncology

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