Faculty Collaboration Database

Mutational analysis of the PMS2 gene in sporadic endometrial cancers with microsatellite instability. Gynecol Oncol 1999 Sep;74(3):395-9

Date

09/10/1999

Pubmed ID

10479499

DOI

10.1006/gyno.1999.5486

Scopus ID

2-s2.0-0032870838 (requires institutional sign-in at Scopus site)   14 Citations

Abstract

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 PJ

Author

Janet Sue Rader MD Chair, Professor in the Obstetrics and Gynecology department at Medical College of Wisconsin

MESH terms used to index this publication - Major topics in bold

Adenosine Triphosphatases
DNA Mutational Analysis
DNA Repair Enzymes
DNA, Neoplasm
DNA-Binding Proteins
Endometrial Neoplasms
Female
Humans
Microsatellite Repeats
Mismatch Repair Endonuclease PMS2
Mutation
Proteins