Title
Colorectal Cancer in a Monoallelic MYH Mutation Carrier
Abbreviated Journal Title
J. Gastrointest. Surg.
Keywords
Colorectal cancer; MYH polyposis; Monoallelic mutations; Biallelic; mutations; POLYPOSIS; Gastroenterology & Hepatology; Surgery
Abstract
Although the literature describes mutY homolog gene (MYH) polyposis as an autosomal recessive syndrome, we report a case of colorectal cancer in a carrier of MYH polyposis. Biallelic mutations in the MYH gene have been shown to increase the risk of colorectal cancer over the lifetime of the mutation carrier.1,2 However, there is no clear consensus in the literature as whether a monoallelic mutation increases the risk for colorectal cancer.3 In this report, we postulate that a single mutation is sufficient to increase the risk of colorectal cancer. We also propose that the G382D MYH mutation may play a dominant rather than a recessive role in polyposis and cancer development.
Journal Title
Journal of Gastrointestinal Surgery
Volume
17
Issue/Number
8
Publication Date
1-1-2013
Document Type
Article
Language
English
First Page
1500
Last Page
1502
WOS Identifier
ISSN
1091-255X
Recommended Citation
"Colorectal Cancer in a Monoallelic MYH Mutation Carrier" (2013). Faculty Bibliography 2010s. 4197.
https://stars.library.ucf.edu/facultybib2010/4197
Comments
Authors: contact us about adding a copy of your work at STARS@ucf.edu