Missense mutation of the hMSH6 and p53 genes in sporadic urothelial transitional cell carcinoma.

  • Authors:
    • M Furihata
    • T Shuin
    • T Takeuchi
    • H Sonobe
    • Y Ohtsuki
    • Y Akiyama
    • Y Yuasa
  • View Affiliations

  • Published online on: March 1, 2000     https://doi.org/10.3892/ijo.16.3.491
  • Pages: 491-497
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Abstract

Functional defects in DNA mismatch repair genes have been shown to be associated mainly with hereditary human malignancies. We examined genomic DNA from 88 sporadic transitional cell carcinomas (TCCs) of the urinary tract for mutations in hMSH6 gene by polymerase chain reaction and direct sequencing analysis. Mutational status of p53 gene was also studied as a potential target of genetic instability secondary to hMSH6 dysfunction. A total of 5 cases (5.7%: 5/88) displayed hMSH6 mutations all consisted of transition and located in exon 4, including three cases with missense mutation and two without change of corresponding amino acid. These three tumors with hMSH6 missense mutation had no microsatellite instability with five microsatellite markers tested. p53 gene mutations were detected in 22 cases (25.0%: 22/88). No tumors with p53 mutation had any hMSH6 missense mutations. Compared to the cases without hMSH6 alterations, the three patients with hMSH6 alterations had more frequent additional primary cancer (P<0.05). These findings provide the first in vivo evidence for the type of alterations and frequency of possible involvement of the hMSH6 mutations in sporadic type urothelial TCCs.

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March 2000
Volume 16 Issue 3

Print ISSN: 1019-6439
Online ISSN:1791-2423

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APA
Furihata, M., Shuin, T., Takeuchi, T., Sonobe, H., Ohtsuki, Y., Akiyama, Y., & Yuasa, Y. (2000). Missense mutation of the hMSH6 and p53 genes in sporadic urothelial transitional cell carcinoma.. International Journal of Oncology, 16, 491-497. https://doi.org/10.3892/ijo.16.3.491
MLA
Furihata, M., Shuin, T., Takeuchi, T., Sonobe, H., Ohtsuki, Y., Akiyama, Y., Yuasa, Y."Missense mutation of the hMSH6 and p53 genes in sporadic urothelial transitional cell carcinoma.". International Journal of Oncology 16.3 (2000): 491-497.
Chicago
Furihata, M., Shuin, T., Takeuchi, T., Sonobe, H., Ohtsuki, Y., Akiyama, Y., Yuasa, Y."Missense mutation of the hMSH6 and p53 genes in sporadic urothelial transitional cell carcinoma.". International Journal of Oncology 16, no. 3 (2000): 491-497. https://doi.org/10.3892/ijo.16.3.491