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

Buchanan, DD; Sweet, K; Drini, M; Jenkins, MA; Win, AK; Gattas, M; Walsh, MD; Clendenning, M; McKeone, D; Walters, R; Roberts, A; Young, A; Hampel, H; Hopper, JL; Goldblatt, J; George, J; Suthers, GK; Phillips, K; Young, GP; Chow, E; Parry, S; Woodall, S; Tucker, K; Muir, A; Field, M; Greening, S; Gallinger, S; Green, J; Woods, MO; Spaetgens, R; De La Chapelle, A; MacRae, F; Walker, NI; Jass, JR; Young, JP

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

Buchanan, DD

Sweet, K Drini, M Jenkins, MA

Win, AK

Gattas, M Walsh, MD Clendenning, M McKeone, D Walters, R Roberts, A

Young, A Hampel, H Hopper, JL Goldblatt, J George, J Suthers, GK Phillips, K Young, GP Chow, E Parry, S Woodall, S

Tucker, K Muir, A Field, M Greening, S Gallinger, S Green, J Woods, MO Spaetgens, R De La Chapelle, A MacRae, F Walker, NI Jass, JR Young, JP

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Publication Type:: Journal Article
Citation:: International Journal of Colorectal Disease, 2010, 25 (6), pp. 703 - 712
Issue Date:: 2010-06-01

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Field	Value	Language
dc.contributor.author	Buchanan, DD https://orcid.org/0000-0003-2225-6675	en_US
dc.contributor.author	Sweet, K	en_US
dc.contributor.author	Drini, M	en_US
dc.contributor.author	Jenkins, MA https://orcid.org/0000-0002-8964-6160	en_US
dc.contributor.author	Win, AK https://orcid.org/0000-0002-2794-5261	en_US
dc.contributor.author	Gattas, M	en_US
dc.contributor.author	Walsh, MD	en_US
dc.contributor.author	Clendenning, M	en_US
dc.contributor.author	McKeone, D	en_US
dc.contributor.author	Walters, R	en_US
dc.contributor.author	Roberts, A https://orcid.org/0000-0002-6429-6133	en_US
dc.contributor.author	Young, A	en_US
dc.contributor.author	Hampel, H	en_US
dc.contributor.author	Hopper, JL	en_US
dc.contributor.author	Goldblatt, J	en_US
dc.contributor.author	George, J	en_US
dc.contributor.author	Suthers, GK	en_US
dc.contributor.author	Phillips, K	en_US
dc.contributor.author	Young, GP	en_US
dc.contributor.author	Chow, E	en_US
dc.contributor.author	Parry, S	en_US
dc.contributor.author	Woodall, S https://orcid.org/0000-0002-9910-5560	en_US
dc.contributor.author	Tucker, K	en_US
dc.contributor.author	Muir, A	en_US
dc.contributor.author	Field, M	en_US
dc.contributor.author	Greening, S	en_US
dc.contributor.author	Gallinger, S	en_US
dc.contributor.author	Green, J	en_US
dc.contributor.author	Woods, MO	en_US
dc.contributor.author	Spaetgens, R	en_US
dc.contributor.author	De La Chapelle, A	en_US
dc.contributor.author	MacRae, F	en_US
dc.contributor.author	Walker, NI	en_US
dc.contributor.author	Jass, JR	en_US
dc.contributor.author	Young, JP	en_US
dc.date.available	2010-01-14	en_US
dc.date.issued	2010-06-01	en_US
dc.identifier.citation	International Journal of Colorectal Disease, 2010, 25 (6), pp. 703 - 712	en_US
dc.identifier.issn	0179-1958	en_US
dc.identifier.uri	http://hdl.handle.net/10453/130712
dc.description.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. © 2010 The Author(s).	en_US
dc.relation.ispartof	International Journal of Colorectal Disease	en_US
dc.relation.isbasedon	10.1007/s00384-010-0907-8	en_US
dc.subject.classification	Gastroenterology & Hepatology	en_US
dc.subject.mesh	Humans	en_US
dc.subject.mesh	Colonic Polyps	en_US
dc.subject.mesh	Risk Factors	en_US
dc.subject.mesh	Regression Analysis	en_US
dc.subject.mesh	Phenotype	en_US
dc.subject.mesh	Middle Aged	en_US
dc.subject.mesh	Female	en_US
dc.subject.mesh	Male	en_US
dc.title	Phenotypic diversity in patients with multiple serrated polyps: A genetics clinic study	en_US
dc.type	Journal Article
utslib.citation.volume	6	en_US
utslib.citation.volume	25	en_US
utslib.for	1103 Clinical Sciences	en_US
pubs.embargo.period	Not known	en_US
pubs.organisational-group	/University of Technology Sydney
pubs.organisational-group	/University of Technology Sydney/Faculty of Engineering and Information Technology
utslib.copyright.status	closed_access
pubs.issue	6	en_US
pubs.publication-status	Published	en_US
pubs.volume	25	en_US

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. © 2010 The Author(s).

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http://hdl.handle.net/10453/130712