Journal article
Germline Mutations in the Polyposis-Associated Genes BMPR1A, SMAD4, PTEN, MUTYH and GREM1 Are Not Common in Individuals with Serrated Polyposis Syndrome
M Clendenning, JP Young, MD Walsh, S Woodall, J Arnold, M Jenkins, AK Win, JL Hopper, K Sweet, S Gallinger, C Rosty, S Parry, DD Buchanan
Plos One | PUBLIC LIBRARY SCIENCE | Published : 2013
Abstract
Background:Recent reports have observed that individuals with serrated polyps, some of whom meet the clinical diagnostic criteria for Serrated Polyposis Syndrome (SPS), are among those who carry germline mutations in genes associated with polyposis syndromes including; (1) genes known to underlie hamartomatous polyposes (SMAD4, BMPR1A, and PTEN), (2) MUTYH-associated polyposis and (3) GREM1 in Hereditary Mixed Polyposis Syndrome (HMPS). The aim of this study was to characterise individuals fulfilling the current WHO criteria for SPS for germline mutations in these polyposis-associated genes.Methods:A total of 65 individuals with SPS (fulfilling WHO criteria 1 or 3), were recruited to the Gen..
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Grants
Awarded by National Cancer Institute
Funding Acknowledgements
This work was supported by a grant from Cancer Council Queensland (1006290) and National Cancer Institute (RO1 CA123010). The funders had no role in study design, data collection and analysis, decision to publish, or preparation of the manuscript.