Jb. Basil et al., Mutational analysis of the PMS2 gene in sporadic endometrial cancers with microsatellite instability, GYNECOL ONC, 74(3), 1999, pp. 395-399
Objective. Approximately 20% of endometrial tumors have a defect in DNA mis
match repair and exhibit microsatellite instability (MSI). We assessed the
role of the PMS2 DNA mismatch repair gene in MSI-positive sporadic endometr
ial tumors.
Methods. We examined 40 sporadic endometrial tumor specimens with MSI. All
15 exons of the PMS2 gene were investigated for sequence alterations by sin
gle-strand conformational variant analysis.
Results. Twelve polymorphisms were identified, 8 of which were in the codin
g sequence. Four specimens revealed mutations in intronic sequences that ar
e 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 cance
rs with MSI. The identification of single nucleotide polymorphisms in the P
MS2 locus may aid in the mapping and characterization of genetic diseases.
(C) 1999 Academic Press.