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

S Sun; C M T Greenwood; I Thiffault; N Hamel; G Chong; W D Foulkes

doi:10.1136/jmg.2005.030999

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

J Med Genet. 2005 Oct;42(10):766-8. doi: 10.1136/jmg.2005.030999.

Authors

S Sun¹, C M T Greenwood, I Thiffault, N Hamel, G Chong, W D Foulkes

Affiliation

¹ Department of Statistics, University of Toronto, Ontario, Canada.

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.

Publication types

Research Support, Non-U.S. Gov't

MeSH terms

Alleles
Colorectal Neoplasms / genetics*
Colorectal Neoplasms, Hereditary Nonpolyposis / genetics*
Female
Founder Effect*
Gene Frequency
Genetic Predisposition to Disease*
Haplotypes
Humans
Jews
Linkage Disequilibrium
Male
Monte Carlo Method
MutS Homolog 2 Protein / genetics*
Mutation*

Substances

MSH2 protein, human
MutS Homolog 2 Protein