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hMLH1, hMSH2 and hMSH6 mutations in hereditary non-polyposis colorectal cancer families from southern Sweden

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Author

Summary, in English

We have screened 17 Southern Sweden individuals/families with suspected hereditary non-polyposis colorectal cancer (HNPCC) for mutations in the DNA-mismatch repair genes hMLH1, hMSH2 and hMSH6 using denaturing gradient gel electrophoresis, protein truncation test and direct DNA sequencing. The families were selected on the basis of a family history of HNPCC-related tumors or the occurrence of metachronous colorectal cancer/endometrial cancer at young age in an individual with a weak family history of cancer. Furthermore, we required that tumor tissue from at least one individual in the family had to display microsatellite instability. We identified germ-line mutations in 9 individuals from 8 families. Five families had mutations in hMLH1, 4 of which were splice site mutations, 2 had frameshift mutations in hMSH2 and 1 patient with metachronous endometrial and rectal cancer but with a weak family history of cancer had a nonsense mutation in hMSH6. Our results present novel germ-line DNA-repair gene mutations, one of these in hMSH6, and demonstrate the diversified mutation spectrum in Sweden, where no founder mutation has so far been identified.

Publishing year

1999-10-08

Language

English

Pages

197-202

Publication/Series

International Journal of Cancer

Volume

83

Issue

2

Document type

Journal article

Publisher

John Wiley & Sons Inc.

Topic

  • Cancer and Oncology

Keywords

  • Adaptor Proteins, Signal Transducing
  • Adult
  • Base Pair Mismatch
  • Carrier Proteins
  • Colorectal Neoplasms, Hereditary Nonpolyposis
  • DNA Mutational Analysis
  • DNA Repair
  • DNA-Binding Proteins
  • Female
  • Frameshift Mutation
  • Genetic Testing
  • Germ-Line Mutation
  • Humans
  • Male
  • Middle Aged
  • MutS Homolog 2 Protein
  • Neoplasm Proteins
  • Nuclear Proteins
  • Proto-Oncogene Proteins
  • Sweden

Status

Published

Research group

  • Surgery

ISBN/ISSN/Other

  • ISSN: 0020-7136