Absence of the RET+3:T allele in the MTC patients
1 Institute of Human Genetics Polish Academy Sciences, ul. Strzeszyńska 32, 60-479, Poznan, Poland
2 University of Medical Sciences, Poznan, Poland
Hereditary Cancer in Clinical Practice 2012, 10:14 doi:10.1186/1897-4287-10-14Published: 22 October 2012
The mutations of the RET proto-oncogene contributes to the development of MTC by increasing the activity of the receptor encoded by this gene. Variant T of polymorphism rs2435357 located in the enhancer of the RET gene reduces the enhancer’s activity. The opposite effects of rs2435357 and the mutations causing medullary thyroid carcinoma resulted in the investigation of the status of this polymorphism in patients with MTC. In our study, we compared the frequency of polymorphism rs2435357 in the group of 48 MTC patients with its frequency in Polish population. The frequency of heterozygotes C/T at rs2435357 reached almost 12% (18/152) for the Polish population, in contrast to the group of MTC patients where not even a single T allele was found. The frequency difference is statistically significant. This observation might indicate that the presence of the heterozygous T allele at rs2435357 may be associated with the inhibition of medullary thyroid carcinoma development.