[Genetics of colorectal cancer. II. Hereditary background of sporadic and familial colorectal cancer].
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.
Menko
F H
FH
Academisch Ziekenhuis Vrije Universiteit, afd. Klinische Genetica en Antropogenetica, Amsterdam. fh.menko.humgen@med.vu.nl
Griffioen
G
G
Wijnen
J T
JT
Tops
C M
CM
Fodde
R
R
Vasen
H F
HF
D000236:Adenoma / Q000235:genetics; D000293:Adolescent; D000328:Adult; D000368:Aged; D020137:Base Pair Mismatch; D002277:Carcinoma / Q000235:genetics; D002648:Child; D002675:Child, Preschool; D015179:Colorectal Neoplasms / Q000453:epidemiology / Q000235:genetics* / Q000517:prevention & control; D004252:DNA Mutational Analysis; D004260:DNA Repair / Q000235:genetics; D005260:Female; D017431:Genes, MCC / Q000235:genetics; D020022:Genetic Predisposition to Disease / Q000235:genetics*; D018095:Germ-Line Mutation / Q000235:genetics*; D006801:Humans; D008297:Male; D018895:Microsatellite Repeats; D008875:Middle Aged; D009378:Neoplasms, Multiple Primary / Q000235:genetics*; D009426:Netherlands / Q000453:epidemiology; D013577:Syndrome; D014594:Uterine Neoplasms / Q000235:genetics
Genetica van darmkanker. II. Erfelijke achtergrond van sporadische en familiaire darmkanker.