Introduction: Gain of function mutations of RET protooncogene are associated with hereditary medullary thyrpoid cancer. There are mainly specific hot-spot RET gene mutations however they may differ between population.
Aim of the study: In this study we report the prevalence of RET mutations in Polish population based on 20 years of experience of referral polish centers.
Material and methods: RET genetic screening was performed in 2405 patients of Maria Sklodowska-Curie Memorial Cancer Center and Institute of Oncology (1975 from Gliwice Branch and 430 patients from Warsaw). There were 1712 probands and 693 family members.
Results: We have found 268 RET positive families (16% of all probands) and 259 RET gene carriers. In total we identified 527 patients with RET mutations (22% of all analyzed MTC patients). Codon 634 was the most frequent RET alteration among all RET mutations (80/296; 41%) in MEN2A/FMTC patients and only codon 918 (27/27; 100%) was observed in MEN2B patients. Those results are similar to the other European countries (average was 39% of all RET mutation, based on data from Germany, Italy, France, Greece and Czech Republic). Characteristic for Polish population is relatively high frequency of aminoacid substitution in codon 791 (48/296; 25%) and mutation in codon 649 (12/296; 6,1%) which is not observed in other European populations. Routinely we did not analyze mutation in codon 533 (exon 8) of RET gene which is characteristic for Greek population, however we performed such screening in 104 MTC patients who were negative in standard hot-spot analysis. We did not find any mutation in codon 533.
Conclusion: The most frequent alteration of RET gene in Polish population is mutation in codon 634 of RET protooncogene which is characteristic for all European populations. However variation related to different ethnic origin is also reflected in Polish population and is related to two RET gene SNP changes: codon 649 and codon 791.
17 - 19 Feb 2016
European Society of Endocrinology