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  • The HNPCC associated MSH2*1906G→C founder mutation probably originated between 1440 CE and 1715 CE in the Ashkenazi Jewish population

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The HNPCC associated MSH2*1906G→C founder mutation probably originated between 1440 CE and 1715 CE in the Ashkenazi Jewish population
  1. S Sun1,
  2. C M T Greenwood2,
  3. I Thiffault3,
  4. N Hamel3,
  5. G Chong4,
  6. W D Foulkes5
  1. 1Department of Statistics, University of Toronto, Ontario, Canada
  2. 2Program in Genetics and Genomic Biology, Hospital for Sick Children, Toronto
  3. 3Division of Medical Genetics, Research Institute of the McGill University Health Centre, Montreal, Quebec, Canada
  4. 4Department of Diagnostic Medicine, Sir M B Davis–Jewish General Hospital, McGill University, Montreal
  5. 5Program in Cancer Genetics, McGill University, Montreal, Quebec, Canada
  1. Correspondence to:
 Dr Celia Greenwood
 Genetics and Genomic Biology, Hospital for Sick Children, 555 University Ave, Toronto, Ontario, Canada M5G 1X8; celia.greenwoodutoronto.ca

Abstract

The MSH2*1906G→C mutation was recently shown to be a rare yet highly penetrant mutation leading to colorectal cancer. The mutation was only found among Ashkenazi Jewish individuals and lies on an extended haplotype that is common in that population. This study determined that the mutation probably arose between 11 and 22 generations ago, during the time when the Ashkenazim were living in eastern Europe.

  • DMLE, disease mapping using linkage disequilibrium
  • colorectal cancer
  • founder mutation
  • haplotype
  • hereditary cancer

https://doi.org/10.1136/jmg.2005.030999

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    Footnotes

    • Competing interests: none declared