title: Polymorphic variation at the BAT-25 and BAT-26 loci in individuals of African origin. Implications for microsatellite instability testing.
abstract: Instability in the repeat size of microsatellite sequences has been described in both hereditary nonpolyposis and sporadic colorectal cancers. Tumors expressing microsatellite instability are identified through the comparison of the repeat sizes at multiple microsatellite loci between tumor and matched normal tissue DNA. The use of a five-marker panel including two mononucleotide repeat microsatellites, BAT-25 and BAT-26, has recently been suggested for the clinical determination of tumor microsatellite instability. The BAT-25 and BAT-26 loci included in this panel have both demonstrated sensitivity to microsatellite instability and normal quasimonomorphic allelic patterns, which has simplified the distinction between normal and unstable alleles. However, in this study, we identified allelic variations in the size of the poly(A) tract at BAT-26 in 12.6% of 103 healthy African-Americans screened. In addition, 18.4% exhibited allelic size variations in the poly(T) tract at BAT-25. Finally, 2.9% showed variant alleles at both BAT-25 and BAT-26 loci. Screening a small population of Nigerians confirmed the polymorphic nature of both loci and the ethnic origin of alleles not identified in other populations studied thus far. Our results dispute the quasimonomorphic nature of both BAT-25 and BAT-26 in all populations and support the need for thorough population studies to define the different allelic profiles and frequencies at microsatellite loci.
authors.affiliation: Department of Pathology, Division of Human Cancer Genetics, Ohio State University, Columbus, Ohio, USA.
authors.forename: R
authors.initials: R
authors.lastname: Pyatt
authors.forename: R B
authors.initials: RB
authors.lastname: Chadwick
authors.forename: C K
authors.initials: CK
authors.lastname: Johnson
authors.forename: C
authors.initials: C
authors.lastname: Adebamowo
authors.forename: A
authors.initials: A
authors.lastname: de la Chapelle
authors.forename: T W
authors.initials: TW
authors.lastname: Prior
mesh_terms: D000230:Adenocarcinoma / Q000235:genetics*; D000483:Alleles; D044383:Black People / Q000235:genetics*; D015179:Colorectal Neoplasms / Q000235:genetics; D004268:DNA-Binding Proteins; D016889:Endometrial Neoplasms / Q000235:genetics*; D005260:Female; D018703:Founder Effect; D006801:Humans; D008297:Male; D018895:Microsatellite Repeats; D051718:MutS Homolog 2 Protein; D009549:Nigeria; D011061:Poly A / Q000235:genetics; D011071:Poly T / Q000235:genetics; D011110:Polymorphism, Genetic; D011518:Proto-Oncogene Proteins / Q000235:genetics; D019009:Proto-Oncogene Proteins c-kit / Q000235:genetics; D014481:United States; D001741:Black or African American
chemical_list: D004268:DNA-Binding Proteins; D011518:Proto-Oncogene Proteins; D011061:Poly A; D011071:Poly T; D019009:Proto-Oncogene Proteins c-kit; C497172:MSH2 protein, human; D051718:MutS Homolog 2 Protein