title: Gene mutations in advanced colonic polyps: potential marker selection for stool-based mutated human DNA assays for colon cancer screening.
abstract: The detection and removal of advanced colonic polyps (ACPs) can help prevent the development of colorectal cancer. A set of DNA mutations known to be associated with colorectal carcinoma was tested against resected ACPs to determine the set s potential utility as a marker panel for ACPs. A sensitive mutation marker panel could be used by stool-based assays that look for mutated human DNA to detect the presence of ACPs. DNA from 32 ACPs = 1.0 cm in diameter was amplified and tested for 19 colorectal cancer associated DNA mutations and for deletions in BAT-26 (microsatellite instability). One or more mutations were identified by microsequencing in 28 of the 32 ACPs (88%). Mutations were identified in k-ras (59%), APC (33%), and p53 (22%). BAT-26 mutation, a marker for microsatellite instability, was not identified. Stool DNA based assays that can identify these mutations may significantly increase the identification of patients with potentially premalignant ACPs for evaluation and treatment by colonoscopy.
authors.affiliation: EXACT Sciences Corporation, Maynard, MA, USA. bberger@exactsciences.com
authors.forename: Barry M
authors.initials: BM
authors.lastname: Berger
authors.forename: Beverly M
authors.initials: BM
authors.lastname: Vucson
authors.forename: Jeremy S
authors.initials: JS
authors.lastname: Ditelberg
mesh_terms: D000328:Adult; D000368:Aged; D000369:Aged, 80 and over; D003111:Colonic Polyps / Q000453:epidemiology* / Q000209:etiology / Q000235:genetics* / Q000473:pathology; D003113:Colonoscopy; D017931:DNA Primers; D004273:DNA, Neoplasm / Q000235:genetics*; D005243:Feces / Q000737:chemistry; D005260:Female; D005820:Genetic Testing / Q000379:methods*; D006801:Humans; D008297:Male; D008404:Massachusetts / Q000453:epidemiology; D008499:Medical Records; D008875:Middle Aged; D009154:Mutation; D016133:Polymerase Chain Reaction; D011237:Predictive Value of Tests; D012189:Retrospective Studies
chemical_list: D017931:DNA Primers; D004273:DNA, Neoplasm