Molecular basis of HNPCC: mutations of MMR genes.

  title={Molecular basis of HNPCC: mutations of MMR genes.},
  author={Nickolas Papadopoulos and A. Arto Lindblom},
  journal={Human mutation},
  volume={10 2},
Hereditary nonpolyposis colorectal cancer (HNPCC) is inherited as a dominant disorder caused by germline defects in one of at least four mismatch repair (MMR) genes. Two of these genes, hMSH2 and hMLH1, account for the vast majority of the germline mutations in HNPCC kindreds, whereas hPMS1 and hPMS2 are mutated in only few families. MMR genes also are susceptible to somatic mutations in sporadic tumors. The mutational spectrum of the MMR genes shows no predominant type of mutation. Furthermore… CONTINUE READING