Frameshift mutations of human gastrin receptor gene (hGARE) in gastrointestinal cancers with microsatellite instability

Lab Invest. 2002 Mar;82(3):265-71. doi: 10.1038/labinvest.3780420.

Abstract

Gastrointestinal tumors with DNA mismatch repair (MMR) defects show microsatellite instability (MSI) and harbor frameshift mutations in coding mononucleotide repeats of cancer-related genes (targets). We assessed MSI status in 233 sporadic gastrointestinal tumors. We classified as MSI-H (high-frequency microsatellite instability) 15 (10%) of 150 colorectal cancers and 13 (16%) of 83 gastric cancers. We searched for frameshift mutations in a coding poly(T)(8) tract within the gastrin receptor gene (hGARE), which has a potential role in gastrointestinal carcinogenesis. To this purpose, we screened 43 unstable tumors (including 15 hereditary nonpolyposis colorectal cancer cases previously classified as MSI-H), 98 stable tumors, as well as 3 MMR-deficient and 4 MMR-proficient gastrointestinal cancer cell lines. We found mutations in 8 (19%) of the 43 MSI-H tumors but in none of the 98 stable cancers. hGARE mutation frequency was similar in gastric (23%) and colorectal cancers, including sporadic (13%) and hereditary (20%) cases. All mutated tumors proved to harbor frameshift mutations in other cancer-related genes that are considered as targets in MSI tumorigenesis. The MMR-deficient and gastrin-sensitive LoVo colorectal cancer cells also showed a hGARE heterozygous frameshift mutation, but expressed only the mutated allele. All detected mutations can be predicted to generate a truncated protein carrying amino acid changes. On the basis of genetic findings, we propose hGARE as a new candidate target gene in MSI tumorigenesis. Functional studies are warranted to elucidate the mechanism by which the hGARE mutation might contribute to gastrointestinal carcinogenesis.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Base Pair Mismatch
  • Colorectal Neoplasms / classification
  • Colorectal Neoplasms / genetics*
  • DNA Mutational Analysis
  • DNA, Neoplasm / analysis
  • Frameshift Mutation*
  • Humans
  • Microsatellite Repeats / genetics*
  • RNA, Messenger / metabolism
  • RNA, Neoplasm / analysis
  • Receptors, Cholecystokinin / genetics*
  • Reverse Transcriptase Polymerase Chain Reaction
  • Stomach Neoplasms / classification
  • Stomach Neoplasms / genetics*
  • Tumor Cells, Cultured

Substances

  • DNA, Neoplasm
  • RNA, Messenger
  • RNA, Neoplasm
  • Receptors, Cholecystokinin