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Absence of the RET+3:T allele in the MTC patients

Pawel Borun1, Sowinski Jerzy, Katarzyna Ziemnicka

  • 1Institute of Human Genetics Polish Academy Sciences, ul, Strzeszyńska 32, 60-479, Poznan, Poland. andp@man.poznan.pl.

Hereditary Cancer in Clinical Practice
|October 24, 2012
PubMed

Insights

The T allele of RET gene polymorphism rs2435357 was absent in medullary thyroid carcinoma (MTC) patients, unlike the general Polish population. This suggests the T allele may inhibit MTC development.

Area of Science:

  • Genetics
  • Oncology
  • Molecular Biology

Background:

  • The RET proto-oncogene plays a crucial role in medullary thyroid carcinoma (MTC) development, with mutations increasing receptor activity.
  • Polymorphism rs2435357 in the RET gene enhancer, specifically the T variant, has been shown to decrease enhancer activity.

Purpose of the Study:

  • To investigate the frequency of the rs2435357 polymorphism in Polish medullary thyroid carcinoma patients.
  • To explore the potential association between the rs2435357 T allele and the inhibition of MTC development.

Main Methods:

  • A case-control study comparing the frequency of the rs2435357 polymorphism in 48 MTC patients against the general Polish population.
  • Genotyping analysis to determine the allelic and genotypic frequencies of rs2435357.

Main Results:

  • The heterozygous C/T genotype for rs2435357 was observed in nearly 12% of the Polish population (18/152).
  • Notably, not a single T allele was detected in the group of 48 MTC patients.
  • The observed difference in T allele frequency between MTC patients and the general population was statistically significant.

Conclusions:

  • The absence of the T allele in MTC patients suggests a potential protective role.
  • The heterozygous T allele at rs2435357 may be associated with the inhibition of medullary thyroid carcinoma development.

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