title: No evidence for BCL10 mutation in endometrial cancers with microsatellite instability.
abstract: Previous reports have suggested that the mononucleotide repeats in BCL10 frequently are mutated in both hematologic malignancies and solid tumors. We set out to determine whether these repeats, like simple repeat sequences in other genes, are a target for mutation in endometrial cancers with defective DNA mismatch repair. Primary endometrial cancers (n = 42) and endometrial cancer cell lines (n=5) with microsatellite instability (MSI) were investigated. BCL10 exons 2 and 3 were amplified by PCR and evaluated for mutation using denaturing high-performance liquid chromatography (DHPLC) and single stand conformational variant (SSCV) analysis. Variants were directly sequenced. No BCL10 mutations were detected in exons 2 or 3 by DHPLC or SSCV. A polymorphism in exon 3 (638G-->A) was seen in 4/42 (9.5%) MSI-positive endometrial cancers and 0/5 MSI-positive endometrial cancer cell lines. Thus, mutation in the mononucleotide repeat tracts of BCL10 is not a feature of endometrial cancers with defective DNA mismatch repair.
authors.affiliation: Department of Obstetrics and Gynecology, Washington University School of Medicine, St. Louis, Missouri, USA. cohnd@msnotes.wustl.edu
authors.forename: D
authors.initials: D
authors.lastname: Cohn
authors.forename: D
authors.initials: D
authors.lastname: Mutch
authors.forename: A
authors.initials: A
authors.lastname: Elbendary
authors.forename: J
authors.initials: J
authors.lastname: Rader
authors.forename: T
authors.initials: T
authors.lastname: Herzog
authors.forename: P
authors.initials: P
authors.lastname: Goodfellow
mesh_terms: D048868:Adaptor Proteins, Signal Transducing; D000074018:B-Cell CLL-Lymphoma 10 Protein; D001483:Base Sequence; D004252:DNA Mutational Analysis; D004273:DNA, Neoplasm / Q000737:chemistry / Q000235:genetics; D016889:Endometrial Neoplasms / Q000235:genetics* / Q000473:pathology; D005260:Female; D006801:Humans; D018895:Microsatellite Repeats / Q000235:genetics*; D009154:Mutation; D009363:Neoplasm Proteins / Q000235:genetics*; D018807:Polymorphism, Single-Stranded Conformational
chemical_list: D048868:Adaptor Proteins, Signal Transducing; D000074018:B-Cell CLL-Lymphoma 10 Protein; C118591:BCL10 protein, human; D004273:DNA, Neoplasm; D009363:Neoplasm Proteins