Phenotypic diversity in patients with multiple serrated polyps: a genetics clinic study

Daniel Buchanan, Kevin Sweet, Musa Drini, Mark Jenkins, Aung Ko Win, Michael Gattas, Michael Walsh, Mark Clendenning, Diane McKeone, Rhiannon Walters, Aedan Roberts, Alasdair Young, Heather Hampel, John Hopper, Jack Goldblatt, Jillian George, Graeme Suthers, Kerry Phillips, Graeme Young, Elizabeth ChowSusan Parry, Sonja Woodall, Kathy Tucker, Amanda Muir, Michael Field, Sian Greening, Steven Gallinger, Jane Green, Michael Woods, Renee Spaetgens, Albert de la Chapelle, Finlay Macrae, Neil Walker, Jeremy Jass, Joanne Young

    Research output: Contribution to journalArticlepeer-review

    40 Citations (Scopus)


    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.

    Original languageEnglish
    Pages (from-to)703-712
    Number of pages10
    JournalInternational Journal of Colorectal Disease
    Issue number6
    Publication statusPublished - Jun 2010


    • Ethnicity
    • Family history
    • Hyperplastic polyposis
    • Serrated neoplasia
    • Smoking


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