A636P testing in Ashkenazi Jews

Fam Cancer. 2004;3(3-4):223-7. 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.

Publication types

  • Comparative Study
  • Research Support, Non-U.S. Gov't
  • Review

MeSH terms

  • Adaptor Proteins, Signal Transducing
  • Adult
  • Age Distribution
  • Aged
  • Alleles
  • Carrier Proteins
  • Colorectal Neoplasms, Hereditary Nonpolyposis / ethnology*
  • Colorectal Neoplasms, Hereditary Nonpolyposis / genetics*
  • Female
  • Genetic Predisposition to Disease / ethnology*
  • Genetic Testing
  • Humans
  • Incidence
  • Jews / genetics*
  • Male
  • Middle Aged
  • MutL Protein Homolog 1
  • Mutation
  • Neoplasm Proteins / genetics*
  • Nuclear Proteins
  • Polymorphism, Genetic*
  • Sensitivity and Specificity
  • Sex Distribution
  • Survival Analysis

Substances

  • Adaptor Proteins, Signal Transducing
  • Carrier Proteins
  • MLH1 protein, human
  • Neoplasm Proteins
  • Nuclear Proteins
  • MutL Protein Homolog 1