A636P testing in Ashkenazi Jews

G. Jose, G. Harvey, Palmer Crystal, Glogowski Emily, Rob Finch, Nafa Khedoudja, J. Arnold, Offit Kenneth, A. Nathan

Research output: Contribution to journalArticle

9 Scopus citations

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.

Original languageEnglish (US)
Pages (from-to)223-227
Number of pages5
JournalFamilial Cancer
Volume3
Issue number3-4
DOIs
StatePublished - Nov 24 2004
Externally publishedYes

Keywords

  • A636P
  • Ashkenazi Jewish
  • hereditary nonpolyposis colorectal cancer
  • mismatch repair

ASJC Scopus subject areas

  • Genetics
  • Oncology
  • Genetics(clinical)
  • Cancer Research

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    Jose, G., Harvey, G., Crystal, P., Emily, G., Finch, R., Khedoudja, N., Arnold, J., Kenneth, O., & Nathan, A. (2004). A636P testing in Ashkenazi Jews. Familial Cancer, 3(3-4), 223-227. https://doi.org/10.1007/s10689-004-0899-z