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. 2021 Apr 30;62(2):110-119.
doi: 10.3325/cmj.2021.62.110.

Crude annual incidence rate of medullary thyroid cancer and RET mutation frequency

Sara Milićević, Damijan Bergant, Tina Žagar, Barbara Perić  1
Affiliations

Crude annual incidence rate of medullary thyroid cancer and RET mutation frequency

Sara Milićević et al. Croat Med J. .

Abstract

Aim: To determine the frequency and type of RET mutation in Slovenian medullary thyroid cancer (MTC) patients and estimate the crude annual incidence of MTC in Slovenia.

Methods: This referral-center retrospective analysis involved 186 MTC patients diagnosed between 1995 and 2015 and their relatives who underwent genetic counseling and testing. The crude incidence rate of MTC was estimated with the joinpoint regression analysis. Genomic DNA was isolated, and exons 10, 11, 13, 14, 15, and 16 of the RET proto-oncogene were amplified with polymerase chain reaction. Point mutations of the RET gene were detected by single-strand conformation analysis and DNA sequencing. Detected mutations were confirmed by restriction enzymes.

Results: The average crude annual incidence rate of MTC in Slovenia was 0.34/100,000. A germline mutation in the RET proto-oncogene was identified in 25.9% of MTC patients. The most frequently altered codons were codons 634 and 618, followed by codon 790, codon 804, and codon 918.

Conclusions: Annual incidence increase and nation-specific frequency of RET mutations justify the future use of genetic counseling and testing of MTC patients in Slovenia.

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Figures

Figure 1
Figure 1
The total number of patients included in the analysis. Abbreviations: MTC – medullary thyroid carcinoma; CRRS – Cancer Registry of Republic of Slovenia; ROI – hospital-based Registry of Patients with MTC; SLO – Slovenia.
Figure 2
Figure 2
The crude annual incidence rates and long-term trends of incidence rates.
See this image and copyright information in PMC

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References

    1. Ceolin L, Siqueira DR, Ferreira CV, Romitti M, Maia SC, Leiria L, et al. Additive effect of RET polymorphisms on sporadic medullary thyroid carcinoma susceptibility and tumor aggressiveness. Eur J Endocrinol. 2012;166:847–54. doi: 10.1530/EJE-11-1060. - DOI - PubMed
    1. Somnay YR, Schneider D, Mazeh H. Thyroid: medullary carcinoma. Atlas Genet Cytogenet Oncol Haematol. 2013;17:291–6. - PMC - PubMed
    1. Sarika HL, Papathoma A, Garofalaki M, Vasileiou V, Vlassopoulou B, Anastasiou E, et al. High prevalence of exon 8 G533C mutation in apparently sporadic medullary thyroid carcinoma in Greece. Clin Endocrinol (Oxf) 2012;77:857–62. doi: 10.1111/j.1365-2265.2012.04462.x. - DOI - PubMed
    1. Ceolin L, Siqueira DR, Romitti M, Ferreira CV, Maia AL. Molecular basis of medullary thyroid carcinoma: the role of RET polymorphisms. Int J Mol Sci. 2012;13:221–39. doi: 10.3390/ijms13010221. - DOI - PMC - PubMed
    1. Wells SA, Jr, Asa SL, Dralle H, Elisei R, Evans DB, Gagel RF, et al. American Thyroid Association Guidelines Task Force on Medullary Thyroid Carcinoma. Revised American Thyroid Association guidelines for the management of medullary thyroid carcinoma. Thyroid. 2015;25:567–610. doi: 10.1089/thy.2014.0335. - DOI - PMC - PubMed

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