Journal article
Hyperplastic Polyposis Syndrome: Phenotypic Presentations and the Role of MBD4 and MYH
E Chow, L Lipton, E Lynch, R D'Souza, C Aragona, L Hodgkin, G Brown, I Winship, M Barker, D Buchanan, S Cowie, S Nasioulas, D du Sart, J Young, B Leggett, J Jass, F Macrae
Gastroenterology | W B SAUNDERS CO-ELSEVIER INC | Published : 2006
Abstract
Background & Aims: Hyperplastic polyposis syndrome (HPS) is defined phenotypically with multiple, large and/or proximal hyperplastic polyps. There is no known germ-line predisposition. We aimed to characterize the clinicopathologic features of 38 patients with HPS and explore the role of germ-line mutations in the base excision repair genes MBD4 and MYH. Methods: Utilizing clinical databases of The Royal Melbourne Hospital Bowel Cancer Surveillance Service and the Familial Cancer Clinic, 38 patients with HPS were recruited. The patients were analyzed for age at first diagnosis, features of hyperplastic polyposis, family histories of polyposis and colorectal cancer (CRC), coexisting adenomas,..
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