[Genetics of colorectal cancer. II. Hereditary background of sporadic and familial colorectal cancer]

Ned Tijdschr Geneeskd. 1999 Jun 5;143(23):1207-11.
[Article in Dutch]

Abstract

About 15% of patients with colorectal cancer have a positive family history: 5% have hereditary colorectal cancer (hereditary non-polyposis colorectal carcinoma (HNPCC), familial adenomatous polyposis (FAP) or some other hereditary syndrome), while in 10% no clear hereditary pattern can be recognized ('familial colorectal cancer'). In sporadic and in familial intestinal cancer, a demonstrable hereditary predisposition may undoubtedly exist. HNPCC is often characterized by microsatellite instability, i.e. an increased number of short DNA sequences in the DNA indicating a disorder in DNA repair and a mutation in a DNA 'mismatch repair' (MMR) gene. Indicative of hereditary bowel cancer on the basis of such an MMR gene mutation are: (a) presence of bowel cancer in > or = 3 relatives, (b) early age at the time of the diagnosis of 'bowel cancer', (c) multiple primary bowel tumours, (d) uterine cancer in the family and (e) bowel and uterine cancer in a woman. Recent data demand a new subdivision of hereditary bowel cancer, based upon both the clinical picture and the results of DNA-tests. The genetic alterations in colonic adenomas and carcinomas are known to a large extent. In future these insights may be important in clinical practice, such as a more individual determination of the patient's prognosis and accordingly, of the treatment and follow-up.

Publication types

  • English Abstract
  • Review

MeSH terms

  • Adenoma / genetics
  • Adolescent
  • Adult
  • Aged
  • Base Pair Mismatch
  • Carcinoma / genetics
  • Child
  • Child, Preschool
  • Colorectal Neoplasms / epidemiology
  • Colorectal Neoplasms / genetics*
  • Colorectal Neoplasms / prevention & control
  • DNA Mutational Analysis
  • DNA Repair / genetics
  • Female
  • Genes, MCC / genetics
  • Genetic Predisposition to Disease / genetics*
  • Germ-Line Mutation / genetics*
  • Humans
  • Male
  • Microsatellite Repeats
  • Middle Aged
  • Neoplasms, Multiple Primary / genetics*
  • Netherlands / epidemiology
  • Syndrome
  • Uterine Neoplasms / genetics