A novel MSH2 germline mutation in a Druze HNPCC family

Fam Cancer. 2008;7(2):135-9. doi: 10.1007/s10689-007-9157-5. Epub 2007 Jul 29.

Abstract

Germline mutations in DNA mismatch repair (DNA-MMR) genes, mainly MLH1, MSH2, and MSH6, underlie Hereditary non-polyposis colorectal cancer (HNPCC) and are mostly family-specific, with few reported founder mutations in MSH2 (Ashkenazim) MLH1 (Finnish). No mutations in colon cancer susceptibility genes have ever been reported in Druze individuals, a Moslem related faith encompassing approximately 1,000,000 individuals worldwide. A novel MSH2 mutation is described in a Druze HNPCC family: a multigenerational family with 10 members in 4 generations affected with colorectal cancer (mean age of diagnosis 46.5 years), two with gastric cancer and one--endometrial cancer. Mutational analysis of the MSH2 gene using denaturing gradient gel electrophoresis (DGGE) and direct sequencing revealed the c.702delA mutation in codon 234 of exon 4 of the MSH2 gene leading to a premature early stop in codon 245, p.Thr234fsX245. Analysis of mutation-carrying or presumed carriers individuals' offspring, revealed 11/42 asymptomatic mutation carriers, age range 17-50 years. The mutation was not present in two additional Druze HNPCC families and 20 Druze sporadic colon cancer patients. This is the first mutation ever reported in a colon cancer susceptibility gene in a Druze family and it appears not to be a founder mutation in Druze individuals with HNPCC.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adolescent
  • Adult
  • Arabs / genetics*
  • Colorectal Neoplasms, Hereditary Nonpolyposis / ethnology
  • Colorectal Neoplasms, Hereditary Nonpolyposis / genetics*
  • Female
  • Genetic Predisposition to Disease
  • Germ-Line Mutation*
  • Humans
  • Israel
  • Male
  • Middle Aged
  • MutS Homolog 2 Protein / genetics*
  • Pedigree

Substances

  • MSH2 protein, human
  • MutS Homolog 2 Protein