Familial Cancer

, Volume 3, Issue 3, pp 223–227

A636P testing in Ashkenazi Jews

  • G. guillem Jose
  • G. moore Harvey
  • Palmer Crystal
  • Glogowski Emily
  • Rob Finch
  • Nafa Khedoudja
  • J. Markowitz Arnold
  • Offit Kenneth
  • A. Ellis Nathan
Article

DOI: 10.1007/s10689-004-0899-z

Cite this article as:
Jose, G.., Harvey, G.., Crystal, P. et al. Familial Cancer (2004) 3: 223. doi:10.1007/s10689-004-0899-z

Abstract

Hereditary nonpolyposis colorectal cancer (HNPCC) is an autosomal dominantly inherited colorectal cancer syndrome attributable to mutations in one of several DNA mismatch repair genes, most commonly MLH1 and MSH2. In certain populations, founder mutations account for a substantial portion of HNPCC. In this report we summarize the literature and our personal experience testing for a specific founder mutation in the Ashkenazi Jewish population, MSH2*1906G>C, also known as A636P. Although rare in the general population, the A636P mutation is detected in up to 7% of Ashkenazi Jewish patients with early age-of-onset colorectal cancer, and may account for up to one third of HNPCC in the Ashkenazi Jewish population. In addition, we summarize our initial experience with a prospective A636P testing protocol aimed at Ashkenazi Jewish patients at high or intermediate risk for harboring the A636P mutation.

Ashkenazi Jewish A636P hereditary nonpolyposis colorectal cancer mismatch repair 

Copyright information

© Kluwer Academic Publishers 2004

Authors and Affiliations

  • G. guillem Jose
    • 1
  • G. moore Harvey
    • 1
  • Palmer Crystal
    • 2
  • Glogowski Emily
    • 2
  • Rob Finch
    • 2
  • Nafa Khedoudja
    • 2
  • J. Markowitz Arnold
    • 2
  • Offit Kenneth
    • 2
  • A. Ellis Nathan
    • 2
  1. 1.Departments of SurgeryNew YorkUSA
  2. 2.Departments of Surgery and MedicineMemorial Sloan-Kettering Cancer CenterNew YorkUSA

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