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"CpG dinucleotides in the hMSH2 and hMLH1 genes are hotspots for HNPCC mutations."

Maliaka YK, Chudina AP, Belev NF, Alday P, Bochkov NP, Buerstedde JM



Published Jan. 1, 1996 in Hum Genet volume 97 .

Pubmed ID: 8566964

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 hMLH1. 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.


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Last modification of this entry: Oct. 6, 2010

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