E2F-4 mutation in hereditary non-polyposis colorectal cancer

H. Moriyama, H. Sasamoto, T. Kambara, Nagahide Matsubara, M. Ikeda, S. Baba, S. J. Meltzer, Henry T. Lynch, K. Shimizu, N. Tanaka

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Abstract

Defects in the DNA mismatch repair function are known to cause microsatellite instability (MSI) in hereditary non-polyposis colorectal cancer (HNPCC) as well as in a subset of sporadic colorectal cancer (CRC). We previously reported that the E2F-4 gene, which encodes an important transcription factor in cell cycle control, had frequent tumor-specific mutations at a coding region of trinucleotide microsatellite (CAG)n in a subset of human sporadic CRC with high-frequency MSI (MSI-H). In this study, we assessed mutations of E2F-4 in HNPCC as well as other target genes of defective DNA mismatch repair function. Eighteen colorectal cancer (CRC) patients from 13 kindreds meeting the Amsterdam criteria for HNPCC were analyzed and compared to sporadic CRC patients with MSI-H. We detected mutations of E2F-4 at the same repeat sequence in HNPCC. The frequency of the E2F-4 mutation in HNPCC was comparable with that in sporadic CRC with MSI-H. E2F-4 was considered to be one of the important target genes responsible for the carcinogenesis of HNPCC.

Original languageEnglish
Pages (from-to)185-189
Number of pages5
JournalJournal of Experimental and Clinical Cancer Research
Volume21
Issue number2
StatePublished - 2002
Externally publishedYes

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Colorectal Neoplasms
Mutation
Microsatellite Instability
DNA Mismatch Repair
Genes
Cell Cycle Checkpoints
Microsatellite Repeats
Carcinogenesis
Transcription Factors

All Science Journal Classification (ASJC) codes

  • Cancer Research
  • Oncology

Cite this

Moriyama, H., Sasamoto, H., Kambara, T., Matsubara, N., Ikeda, M., Baba, S., ... Tanaka, N. (2002). E2F-4 mutation in hereditary non-polyposis colorectal cancer. Journal of Experimental and Clinical Cancer Research, 21(2), 185-189.

E2F-4 mutation in hereditary non-polyposis colorectal cancer. / Moriyama, H.; Sasamoto, H.; Kambara, T.; Matsubara, Nagahide; Ikeda, M.; Baba, S.; Meltzer, S. J.; Lynch, Henry T.; Shimizu, K.; Tanaka, N.

In: Journal of Experimental and Clinical Cancer Research, Vol. 21, No. 2, 2002, p. 185-189.

Research output: Contribution to journalArticle

Moriyama, H, Sasamoto, H, Kambara, T, Matsubara, N, Ikeda, M, Baba, S, Meltzer, SJ, Lynch, HT, Shimizu, K & Tanaka, N 2002, 'E2F-4 mutation in hereditary non-polyposis colorectal cancer', Journal of Experimental and Clinical Cancer Research, vol. 21, no. 2, pp. 185-189.
Moriyama H, Sasamoto H, Kambara T, Matsubara N, Ikeda M, Baba S et al. E2F-4 mutation in hereditary non-polyposis colorectal cancer. Journal of Experimental and Clinical Cancer Research. 2002;21(2):185-189.
Moriyama, H. ; Sasamoto, H. ; Kambara, T. ; Matsubara, Nagahide ; Ikeda, M. ; Baba, S. ; Meltzer, S. J. ; Lynch, Henry T. ; Shimizu, K. ; Tanaka, N. / E2F-4 mutation in hereditary non-polyposis colorectal cancer. In: Journal of Experimental and Clinical Cancer Research. 2002 ; Vol. 21, No. 2. pp. 185-189.
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