Literature DB >> 1325301

Congenital hypertrophy of retinal pigment epithelium in patients with colonic polyps associated with cancer family syndrome.

R S Houlston1, T Fallon, C Harocopos, C B Williams, C Davey, J Slack.   

Abstract

Congenital hypertrophy of retinal pigment epithelium (CHRPE) has been shown to be a frequent extracolonic manifestation of adenomatous polyposis coli (APC). The presence of CHRPE in patients with adenomatous polyps from families with cancer family syndrome suggests possible involvement of the APC gene locus in syndromes associated with less florid polyp formation than seen in APC. It also emphasises that caution must be exercised in using the presence of CHRPE clinically as a marker for APC in isolated at-risk individuals.

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Year:  1992        PMID： 1325301     DOI： 10.1111/j.1399-0004.1992.tb03128.x

Source DB:  PubMed          Journal:  Clin Genet        ISSN： 0009-9163            Impact factor:   4.438


  5 in total

1.  Congenital hypertrophy of the retinal pigment epithelium (CHRPE) in familial colorectal cancer.

Authors:  Celia S Chen; Kerry D Phillips; Scott Grist; Graeme Bennet; Jamie E Craig; James S Muecke; Graeme K Suthers
Journal:  Fam Cancer       Date:  2006-08-31       Impact factor: 2.375

2.  Inducible loss of one Apc allele in Lrig1-expressing progenitor cells results in multiple distal colonic tumors with features of familial adenomatous polyposis.

Authors:  Anne E Powell; Gregory Vlacich; Zhen-Yang Zhao; Eliot T McKinley; M Kay Washington; H Charles Manning; Robert J Coffey
Journal:  Am J Physiol Gastrointest Liver Physiol       Date:  2014-05-15       Impact factor: 4.052

3.  Common variation near CDKN1A, POLD3 and SHROOM2 influences colorectal cancer risk.

Authors:  Malcolm G Dunlop; Sara E Dobbins; Susan Mary Farrington; Angela M Jones; Claire Palles; Nicola Whiffin; Albert Tenesa; Sarah Spain; Peter Broderick; Li-Yin Ooi; Enric Domingo; Claire Smillie; Marc Henrion; Matthew Frampton; Lynn Martin; Graeme Grimes; Maggie Gorman; Colin Semple; Yusanne P Ma; Ella Barclay; James Prendergast; Jean-Baptiste Cazier; Bianca Olver; Steven Penegar; Steven Lubbe; Ian Chander; Luis G Carvajal-Carmona; Stephane Ballereau; Amy Lloyd; Jayaram Vijayakrishnan; Lina Zgaga; Igor Rudan; Evropi Theodoratou; John M Starr; Ian Deary; Iva Kirac; Dujo Kovacević; Lauri A Aaltonen; Laura Renkonen-Sinisalo; Jukka-Pekka Mecklin; Koichi Matsuda; Yusuke Nakamura; Yukinori Okada; Steven Gallinger; David J Duggan; David Conti; Polly Newcomb; John Hopper; Mark A Jenkins; Fredrick Schumacher; Graham Casey; Douglas Easton; Mitul Shah; Paul Pharoah; Annika Lindblom; Tao Liu; Christopher G Smith; Hannah West; Jeremy P Cheadle; Rachel Midgley; David J Kerr; Harry Campbell; Ian P Tomlinson; Richard S Houlston
Journal:  Nat Genet       Date:  2012-05-27       Impact factor: 38.330

4.  Extracolonic features of familial adenomatous polyposis in patients with sporadic colorectal cancer.

Authors:  M G Dunlop; S M Farrington; V J Bubb; C Cunningham; M Wright; L J Curtis; Z A Butt; E Wright; B W Fleck; D Redhead; R Mitchell; J B Rainey; I M Macintyre; D C Carter; A H Wyllie
Journal:  Br J Cancer       Date:  1996-12       Impact factor: 7.640

5.  Congenital hypertrophy of the retinal pigment epithelium and mandibular osteomata as markers in familial colorectal cancer.

Authors:  L M Hunt; M H Robinson; C E Hugkulstone; B Clarke; S A Vernon; R H Gregson; J D Hardcastle; N C Armitage
Journal:  Br J Cancer       Date:  1994-07       Impact factor: 7.640
  5 in total

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