title: BAT-26 and BAT-40 instability in colorectal adenomas and carcinomas and germline polymorphisms.
abstract: Analysis of the mononucleotide repeats BAT-26 and BAT-40 has reportedly revealed significant microsatellite instability in sporadic colorectal adenomas, whereas studies with dinucleotide and tetranucleotide repeats have not. In addition, BAT-26 has been reported to be "quasimonomorphic" in the germline. We evaluated BAT-26 and BAT-40 in a series of colorectal tumors previously analyzed with a panel of tetranucleotide repeats. Instability in BAT-26 or BAT-40 was significantly associated with tetranucleotide repeat instability in sporadic adenomas and carcinomas (P < 0.0001) and was similarly much less common in adenomas than in carcinomas. Germline polymorphisms in both BAT-40 and BAT-26 were identified, and the frequency of BAT-26 polymorphisms was significantly higher in African Americans than in Caucasians (7.7% versus 0.08%, P < 0.001). BAT-26 and BAT-40 may be very useful in evaluating instability in small tumors, as sufficient DNA to be amplified by large panels of microsatellites is not always available from such lesions. Polymorphisms in these microsatellites, however, limit their utility in determinations of microsatellite instability without corresponding normal DNA.
authors.affiliation: Department of Pathology, Oncological Sciences, University of Utah Health Sciences Center, Salt Lake City, Utah, USA. wsamowitz@msscc.med.utah.edu
authors.forename: W S
authors.initials: WS
authors.lastname: Samowitz
authors.forename: M L
authors.initials: ML
authors.lastname: Slattery
authors.forename: J D
authors.initials: JD
authors.lastname: Potter
authors.forename: M F
authors.initials: MF
authors.lastname: Leppert
mesh_terms: D015096:3-Hydroxysteroid Dehydrogenases / Q000235:genetics; D000230:Adenocarcinoma / Q000235:genetics*; D000236:Adenoma / Q000235:genetics*; D015179:Colorectal Neoplasms / Q000235:genetics*; D004268:DNA-Binding Proteins; D005787:Gene Frequency; D018095:Germ-Line Mutation / Q000235:genetics*; D006801:Humans; D018895:Microsatellite Repeats / Q000235:genetics; D051718:MutS Homolog 2 Protein; D011061:Poly A / Q000235:genetics*; D011110:Polymorphism, Genetic; D011518:Proto-Oncogene Proteins / Q000235:genetics; D017384:Sequence Deletion / Q000235:genetics
chemical_list: D004268:DNA-Binding Proteins; D011518:Proto-Oncogene Proteins; D011061:Poly A; D015096:3-Hydroxysteroid Dehydrogenases; C497172:MSH2 protein, human; D051718:MutS Homolog 2 Protein