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

4 Figures & Tables

Connections & Topics

Mentioned Connections BETA
Hereditary non - polyposis colorectal cancer ( HNPCC ) is a heterogeneous autosomal dominant disease with incomplete penetrance .
Hereditary non - polyposis colorectal cancer ( HNPCC ) is a heterogeneous autosomal dominant disease with incomplete penetrance .
Hereditary non - polyposis colorectal cancer ( HNPCC ) is a heterogeneous autosomal dominant disease with incomplete penetrance .
Hereditary non - polyposis colorectal cancer ( HNPCC ) is a heterogeneous autosomal dominant disease with incomplete penetrance .
Since early onset CRC may suggest a genetic predisposition , we decided to analyse patients with onset of colorectal cancer before the age of 50 , with the purpose of identifying clinical and molecular criteria that are simpler than the Amsterdam criteria , but may predict a positive outcome of genetic testing in patients suspected of HNPCC with no definitive demonstration or family history of the disease .
Since early onset CRC may suggest a genetic predisposition , we decided to analyse patients with onset of colorectal cancer before the age of 50 , with the purpose of identifying clinical and molecular criteria that are simpler than the Amsterdam criteria , but may predict a positive outcome of genetic testing in patients suspected of HNPCC with no definitive demonstration or family history of the disease .
The function of MMR genes is to maintain genetic stability and tumour DNA from HNPCC patients shows an accumulation of replication errors exhibiting an instability phenotype at microsatellite loci ( MSI ) .
The function of MMR genes is to maintain genetic stability and tumour DNA from HNPCC patients shows an accumulation of replication errors exhibiting an instability phenotype at microsatellite loci ( MSI ) .
All Topics