DNA methylation plays an important part in the regulation of gene expressio
n. Alterations in DNA methylation in tumours have been reported and have be
en used to generate hypotheses about mutagenesis and silencing of tumour su
ppressor genes. However, the underlying mechanism is still poorly understoo
d, and conflicting data on the levels of overexpression of 5'-cytosine DNA
methyltransferase in sporadic colon carcinoma have been published. We used
a competitive RT-PCR assay for quantification of mRNA of 5'-cytosine DNA me
thyltransferase in colon biopsies obtained from patients with hereditary co
lon carcinoma syndromes and compared the results with those obtained ill a
control group. No significant difference was found between the flat mucose
of FAP patients and the mucosa of the control group. In FAP and HNPCC patie
nts, the 5'-cytosine DNA methyltransferase mRNA levels of adenomas were sig
nificantly higher (P<0.05) than of flat mucosa in the same group, but both
showed great variability from patient to patient. Our findings suggest that
the mRNA levels of methyltransferase cannot be used as predictive marker f
or screening in families affected by hereditary colon carcinoma.