Please use this identifier to cite or link to this item: https://hdl.handle.net/2440/60812
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Type: Journal article
Title: Phenotypic diversity in patients with multiple serrated polyps: a genetics clinic study
Author: Buchanan, D.
Sweet, K.
Drini, M.
Jenkins, M.
Win, A.
Gattas, M.
Walsh, M.
Clendenning, M.
McKeone, D.
Walters, R.
Roberts, A.
Young, A.
Hampel, H.
Hopper, J.
Goldblatt, J.
George, J.
Suthers, G.
Phillips, K.
Young, G.
Chow, E.
et al.
Citation: International Journal of Colorectal Disease: clinical and molecular gastroenterology and surgery, 2010; 25(6):703-712
Publisher: Springer-Verlag
Issue Date: 2010
ISSN: 0179-1958
1432-1262
Statement of
Responsibility: 
Daniel D. Buchanan ... Graeme K. Suthers ... Joanne P. Young et al.
Abstract: Objective: Hyperplastic polyposis is a colonic polyposis condition of unknown aetiology. The purpose of this study was to examine the spectrum of phenotypic variation in patients with multiple serrated polyps as a basis for gene discovery. Methods: One hundred and twenty-six patients with multiple (≥5) serrated polyps were recruited to the study. Polyp counts were extracted from histology and colonoscopy reports. Ethnicity was self-reported. Family history of cancer data were derived from pedigrees. Ascertainment status was classified as either index case or identified by screening. Results: The average reported polyp count was 39. Patients with highest polyp numbers were more likely to be male (P  = 0.02). Colorectal cancer (CRC) was identified in 49 of 119 patients (41%) and 28% of these patients had multiple CRC. Young onset patients had higher polyp numbers (P  = 0.03) and were more likely to have their CRC in the distal colon (P  = 0.02). CRC was significantly associated with the presence of adenomas (P  = 0.03). Patients were divided into moderate polyposis (5-79 serrated polyps) and dense polyposis (80 or more) categories. The dense polyposis category was associated with a lack of family history for CRC (P  = 0.034) and male gender (P  = 0.014), independent of ascertainment status and recruitment site. Conclusion: Multiple serrated polyps were associated with an increased personal risk of CRC. A subset of patients with the highest polyp numbers was more likely to be male and to have no family history of CRC. This result suggests heterogeneous modes of inheritance and has implications for studies investigating the genetic basis of multiple serrated polyps.
Keywords: Hyperplastic polyposis
Serrated neoplasia
Smoking
Family history
Ethnicity
Description: Corrected by: Erratum: Erratum to: Phenotypic diversity in patients with multiple serrated polyps: a genetics clinic study, in Vol. 25, no., 12 (2010) pp. 1513-1515. 10.1007/s00384-010-1055-x. The affiliation of Kathy Tucker and Table 3 are incorrect.
Rights: © The Author(s) 2010. This article is published with open access at Springerlink.com. Open Access This article is distributed under the terms of the Creative Commons Attribution Noncommercial License which permits any noncommercial use, distribution, and reproduction in any medium, provided the original author(s) and source are credited.
DOI: 10.1007/s00384-010-0907-8
Appears in Collections:Aurora harvest 5
Paediatrics publications

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