Mutational germline analysis of hMSH2 and hMLH1 genes in early onset colorectal cancer patients.

@article{Montera2000MutationalGA,
  title={Mutational germline analysis of hMSH2 and hMLH1 genes in early onset colorectal cancer patients.},
  author={Mariapina Montera and Nicoletta Resta and Cristiano Simone and Ginevra Guanti and Caterina Marchese and Serenella Civitelli and Antonmaria Mancini and Sarah Pozzi and Luigi De Salvo and Dario Bruzzone and Alessandra Donadini and Leila Romio and C Mareni},
  journal={Journal of medical genetics},
  year={2000},
  volume={37 7},
  pages={E7}
}
EDITOR—Hereditary non-polyposis colorectal cancer (HNPCC) is a heterogeneous autosomal dominant disease with incomplete penetrance. The frequency is estimated at 1:200/1:1000. HNPCC results from constitutional mutation in one of the five human mismatch repair genes (MMR) that have so far been implicated: hMSH2, hMLH1, hPMS1, hPMS2, and hMSH6. 2 hMSH2 and hMLH1 account for the majority of mutations found in HNPCC families (25-70%). The function of MMR genes is to maintain genetic stability and… CONTINUE READING
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