Human Genetics

, Volume 97, Issue 2, pp 251–255

CpG dinucleotides in the hMSH2 and hMLHI genes are hotspots for HNPCC mutations

  • Yuri K. Maliaka
  • Alla P. Chudina
  • Nicodim F. Belev
  • Pablo Alday
  • Nikolay P. Bochkov
  • Jean-Marie Buerstedde
Rapid Communication

DOI: 10.1007/BF02265276

Cite this article as:
Maliaka, Y.K., Chudina, A.P., Belev, N.F. et al. Hum Genet (1996) 97: 251. doi:10.1007/BF02265276

Abstract

Hereditary nonpolyposis colon cancer (HN-PCC) is an autosomally inherited predisposition to cancer that has recently been linked to defects in the human mismatch repair genes hMSH2 and hMLHI. The identification of the causative mutations in HNPCC families is desirable, since it confirms the diagnosis and allows the carrier status of unaffected relatives at risk to be determined. We report six different new mutations identified in the hMSH2 and hMLH1 genes of Russian and Moldavian HNPCC families. Three of these mutations occur in CpG dinucleotides and lead to a premature stop codon, a splicing defect or an amino-acid substitution in an evolutionary conserved residue. Analysis of a compilation of published mutations including our new data suggests that CpG dinucleotides within the coding regions of the hMSH2 and hMLH1 genes are hotspots for single base-pair substitutions.

Copyright information

© Springer-Verlag 1996

Authors and Affiliations

  • Yuri K. Maliaka
    • 1
  • Alla P. Chudina
    • 2
  • Nicodim F. Belev
    • 3
  • Pablo Alday
    • 4
  • Nikolay P. Bochkov
    • 1
  • Jean-Marie Buerstedde
    • 4
  1. 1.Department of Medical GeneticsSechenov Moscow Medical AcademyMoscowRussia
  2. 2.Laboratory of Prevention of Carcinogenic ActionsCancer Research Center, RAMSMoscowRussia
  3. 3.Department of OncogeneticsInstitute of Oncology of MoldaviaKishinevRepublic of Moldavia
  4. 4.Basel Institute for ImmunologyBaselSwitzerland

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