A common MSH2 mutation in English and North American HNPCC families: origin, phenotypic expression, and sex specific differences in colorectal cancer.

@article{Froggatt1999ACM,
  title={A common MSH2 mutation in English and North American HNPCC families: origin, phenotypic expression, and sex specific differences in colorectal cancer.},
  author={Nicola J. Froggatt and Jane Green and C Brassett and D Gareth R Evans and D Timothy Bishop and Richard D Kolodner and Eamonn R Maher},
  journal={Journal of medical genetics},
  year={1999},
  volume={36 2},
  pages={97-102}
}
The frequency, origin, and phenotypic expression of a germline MSH2 gene mutation previously identified in seven kindreds with hereditary non-polyposis cancer syndrome (HNPCC) was investigated. The mutation (A-->T at nt943+3) disrupts the 3' splice site of exon 5 leading to the deletion of this exon from MSH2 mRNA and represents the only frequent MSH2 mutation so far reported. Although this mutation was initially detected in four of 33 colorectal cancer families analysed from eastern England… CONTINUE READING

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