title: Phenotypic diversity in patients with multiple serrated polyps: a genetics clinic study.
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 (> or = 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.
  
  
  CONCLUSIONS
  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.
authors.affiliation: Familial Cancer Laboratory, QIMR, Herston, Brisbane Q 4006, Australia.
authors.forename: Daniel D
authors.initials: DD
authors.lastname: Buchanan
authors.forename: Kevin
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authors.lastname: Sweet
authors.forename: Musa
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authors.lastname: Drini
authors.forename: Mark A
authors.initials: MA
authors.lastname: Jenkins
authors.forename: Aung Ko
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authors.lastname: Win
authors.forename: Michael
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authors.lastname: Gattas
authors.forename: Michael D
authors.initials: MD
authors.lastname: Walsh
authors.forename: Mark
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authors.lastname: Clendenning
authors.forename: Diane
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authors.lastname: McKeone
authors.forename: Rhiannon
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authors.lastname: Walters
authors.forename: Aedan
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authors.lastname: Roberts
authors.forename: Alasdair
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authors.lastname: Young
authors.forename: Heather
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authors.lastname: Hampel
authors.forename: John L
authors.initials: JL
authors.lastname: Hopper
authors.forename: Jack
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authors.lastname: Goldblatt
authors.forename: Jill
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authors.lastname: George
authors.forename: Graeme K
authors.initials: GK
authors.lastname: Suthers
authors.forename: Kerry
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authors.lastname: Phillips
authors.forename: Graeme P
authors.initials: GP
authors.lastname: Young
authors.forename: Elizabeth
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authors.lastname: Chow
authors.forename: Susan
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authors.lastname: Parry
authors.forename: Sonja
authors.initials: S
authors.lastname: Woodall
authors.forename: Kathy
authors.initials: K
authors.lastname: Tucker
authors.forename: Amanda
authors.initials: A
authors.lastname: Muir
authors.forename: Michael
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authors.lastname: Field
authors.forename: Sian
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authors.lastname: Greening
authors.forename: Steven
authors.initials: S
authors.lastname: Gallinger
authors.forename: Jane
authors.initials: J
authors.lastname: Green
authors.forename: Michael O
authors.initials: MO
authors.lastname: Woods
authors.forename: Renee
authors.initials: R
authors.lastname: Spaetgens
authors.forename: Albert
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authors.lastname: de la Chapelle
authors.forename: Finlay
authors.initials: F
authors.lastname: Macrae
authors.forename: Neal I
authors.initials: NI
authors.lastname: Walker
authors.forename: Jeremy R
authors.initials: JR
authors.lastname: Jass
authors.forename: Joanne P
authors.initials: JP
authors.lastname: Young
mesh_terms: D003111:Colonic Polyps / Q000235:genetics* / Q000473:pathology*; D005260:Female; D006801:Humans; D008297:Male; D008875:Middle Aged; D010641:Phenotype; D012044:Regression Analysis; D012307:Risk Factors