No evidence for BCL10 mutation in endometrial cancers with microsatellite instability. Hum Mutat 2001 Feb;17(2):117-21
Date
02/17/2001Pubmed ID
11180594DOI
10.1002/1098-1004(200102)17:2<117::AID-HUMU3>3.0.CO;2-DScopus ID
2-s2.0-0035140207 (requires institutional sign-in at Scopus site) 5 CitationsAbstract
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.
Author List
Cohn D, Mutch D, Elbendary A, Rader J, Herzog T, Goodfellow PAuthor
Janet Sue Rader MD Chair, Professor in the Obstetrics and Gynecology department at Medical College of WisconsinMESH terms used to index this publication - Major topics in bold
Adaptor Proteins, Signal TransducingB-Cell CLL-Lymphoma 10 Protein
Base Sequence
DNA Mutational Analysis
DNA, Neoplasm
Endometrial Neoplasms
Female
Humans
Microsatellite Repeats
Mutation
Neoplasm Proteins
Polymorphism, Single-Stranded Conformational
