Molecular genetic basis of colorectal cancer susceptibility

Br J Surg. 1996 Mar;83(3):321-9. doi: 10.1002/bjs.1800830309.


The past decade has seen considerable advances in understanding of the molecular processes involved in the development of colorectal cancer. With an increased awareness of genetic aspects of the disease there have already been significant changes in clinical management. This is exemplified by familial adenomatous polyposis, where identification of mutations in the adenomatous polyposis coli (APC) gene in affected individuals can be used directly to reduce the requirement for clinical screening in at-risk relatives. In other more common but less well defined heritable forms of colorectal cancer, testing to identify individuals for early diagnosis and treatment will soon become routine practice. This review does not set out to discuss all aspects of the molecular genetics of colorectal cancer but concentrates on the roles of the APC gene and the recently discovered DNA mismatch repair genes in colorectal cancer. The identification of these genes and their functional significance in the neoplastic process is discussed, and the relevance of such discoveries to future research and clinical management explored.

Publication types

  • Review

MeSH terms

  • Colorectal Neoplasms / genetics*
  • Colorectal Neoplasms, Hereditary Nonpolyposis / genetics
  • DNA Repair
  • Disease Susceptibility
  • Genes, APC
  • Genetic Testing
  • Genotype
  • Humans
  • Pedigree
  • Phenotype