1. [Genetics of colorectal cancer. II. Hereditary background of sporadic and familial colorectal cancer].
- Author
-
Menko FH, Griffioen G, Wijnen JT, Tops CM, Fodde R, and Vasen HF
- Subjects
- Adenoma genetics, Adolescent, Adult, Aged, Base Pair Mismatch, Carcinoma genetics, Child, Child, Preschool, Colorectal Neoplasms epidemiology, Colorectal Neoplasms prevention & control, DNA Mutational Analysis, DNA Repair genetics, Female, Genes, MCC genetics, Humans, Male, Microsatellite Repeats, Middle Aged, Netherlands epidemiology, Syndrome, Uterine Neoplasms genetics, Colorectal Neoplasms genetics, Genetic Predisposition to Disease genetics, Germ-Line Mutation genetics, Neoplasms, Multiple Primary genetics
- 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.
- Published
- 1999