Mutational analysis of the PMS2 gene in sporadic endometrial cancers with microsatellite instability. Gynecol Oncol 1999 Sep;74(3):395-9
Date
09/10/1999Pubmed ID
10479499DOI
10.1006/gyno.1999.5486Scopus ID
2-s2.0-0032870838 (requires institutional sign-in at Scopus site) 14 CitationsAbstract
OBJECTIVE: Approximately 20% of endometrial tumors have a defect in DNA mismatch repair and exhibit microsatellite instability (MSI). We assessed the role of the PMS2 DNA mismatch repair gene in MSI-positive sporadic endometrial tumors.
METHODS: We examined 40 sporadic endometrial tumor specimens with MSI. All 15 exons of the PMS2 gene were investigated for sequence alterations by single-strand conformational variant analysis.
RESULTS: Twelve polymorphisms were identified, 8 of which were in the coding sequence. Four specimens revealed mutations in intronic sequences that are not predicted to affect the PMS2 mRNA. No mutations were detected within the coding region of the PMS2 gene.
CONCLUSION: We conclude that structural mutations in the PMS2 gene are not responsible for defective DNA mismatch repair in sporadic endometrial cancers with MSI. The identification of single nucleotide polymorphisms in the PMS2 locus may aid in the mapping and characterization of genetic diseases.
Author List
Basil JB, Swisher EM, Herzog TJ, Rader JS, Elbendary A, Mutch DG, Goodfellow PJAuthor
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
Adenosine TriphosphatasesDNA Mutational Analysis
DNA Repair Enzymes
DNA, Neoplasm
DNA-Binding Proteins
Endometrial Neoplasms
Female
Humans
Microsatellite Repeats
Mismatch Repair Endonuclease PMS2
Mutation
Proteins