Mutations in DNA Mismatch Repair Genes Are Not Responsible for Microsatellite Instability in Most Sporadic Endometrial Carcinomas

Hidetaka Katabuchi, Bastiaan Van Rees, Anouk R. Lambers, Brigitte M. Ronnett, Marian S. Blazes, Fred S. Leach, Kathleen R. Cho, Lora Hedrick

Research output: Contribution to journalArticle

Abstract

Endometrial carcinoma is the second most common tumor type in women with hereditary nonpolyposis colorectal carcinoma. Microsatellite instability (MI) has been observed in the inherited (hereditary nonpolyposis colorectal carcinoma-associated) form of endometrial carcinoma as well as in approximately 20% of presumably sporadic cases. Recent studies suggest that MI in many cell lines or xenografts derived from sporadic colorectal carcinomas is not attributable to mutations in four known human DNA mismatch repair (MMR) genes (hMSH2, hMLHl, hPMSl, and hPMS2). Mutational analyses of these four MMR genes in endometrial carcinomas have not been previously reported. We analyzed nine sporadic Mi-positive primary endometrial carcinomas for mutations in the above four MMR genes. Mutations were detected in two tumors (in hMSH2) and both of the mutations were acquired somatically. Immuno-histochemical staining revealed a lack of expression of hMSH2 protein in the two tumors containing hMSH2 mutations. Our data suggest that mutations in these four known DNA MMR genes are not responsible for MI in the majority of sporadic endometrial carcinomas displaying this phenotype.

Original languageEnglish (US)
Pages (from-to)5556-5560
Number of pages5
JournalCancer Research
Volume55
Issue number23
StatePublished - Dec 1 1995

ASJC Scopus subject areas

  • Oncology
  • Cancer Research

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    Katabuchi, H., Van Rees, B., Lambers, A. R., Ronnett, B. M., Blazes, M. S., Leach, F. S., Cho, K. R., & Hedrick, L. (1995). Mutations in DNA Mismatch Repair Genes Are Not Responsible for Microsatellite Instability in Most Sporadic Endometrial Carcinomas. Cancer Research, 55(23), 5556-5560.