The present study suggests that MDR1 2677G>T and 3435C>T polymorphism is not a risk factor for sporadic colon cancer among Bulgarians and that somatic mutation at these sites is not involved in the genesis of colon tumors. Further examination using larger number of samples must be necessary to reach to more reliable conclusions.
The purpose of the study was to genotype
four polymorphisms in CYP3A5 (CYP3A5*2, CYP3A5*3,
CYP3A5*3B, and CYP3A5*6) for a possible association
between individual genetic variations and susceptibility
to colorectal cancer. Another point of interest was to conduct
a comprehensive analysis in tumor and normal intestine
tissue from the same patient, searching for somatic
hotspots. Material and Methods: In our study, 146
Bulgarian patients with sporadic colorectal cancer and
160 healthy volunteers were enrolled. CYP3A5 polymorphisms
were identified using rapid-cycle real-time amplification
with allele-specific probes and subsequent melting
curve analysis on a LightCycler™. Results: The allele
frequencies were comparable in both groups: frequency
of CYP3A5*2 = 0.3% in patients vs. 0.6% in controls; frequency
of CYP3A5*3 = 90.8% in patients vs. 93.1% in
controls; in both groups no CYP3A5*3B and CYP3A5*6
variants were detected (p > 0.05). No difference was observed
between genotype frequencies in tumor and surrounding
normal tissues of 80 patients. Conclusions: The
CYP3A5 variants are unlikely to have an important functional
significance in patients with colorectal cancer. The
studied CYP3A5 loci do not seem to be hotspots for somatic
mutation. DNA from archived tumor tissues is a
valid alternative to the use of leukocyte DNA for genotyping
of these polymorphisms.
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