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RET Proto-Oncogene Variants in Patients with Medullary Thyroid Carcinoma from the Mediterranean Basin: A Brief Report

Vassos Neocleous1, Pavlos Fanis1, Savvas Frangos2

  • 1Department of Molecular Genetics, Function and Therapy, The Cyprus Institute of Neurology and Genetics, Nicosia 2371, Cyprus.

Life (Basel, Switzerland)
|June 28, 2023
PubMed

Insights

Multiple endocrine neoplasia type 2 (MEN2) genetic data from the Mediterranean reveal specific RET proto-oncogene variants with higher frequencies due to local prevalence. This epidemiological insight aids in evaluating and treating patients and their families.

Area of Science:

  • Genetics
  • Endocrinology
  • Oncology

Background:

  • Multiple endocrine neoplasia type 2 (MEN2) is an autosomal dominant disorder with high penetrance.
  • MEN2 presents as MEN2A, MEN2B, and familial medullary thyroid carcinoma (FMTC), all linked to the RET proto-oncogene.
  • Tumorigenesis in MEN2 involves the RET proto-oncogene in thyroid, parathyroid, and adrenal glands.

Purpose of the Study:

  • To analyze RET proto-oncogene genotype data from Mediterranean countries.
  • To identify local prevalence and specific pathogenic RET variants in the Mediterranean region.
  • To provide epidemiological data for patient evaluation and treatment.

Main Methods:

  • Collection and analysis of RET proto-oncogene genotype data.
  • Comparison of Mediterranean data with global RET genotype data.
  • Identification of pathogenic RET variants and their frequencies.

Main Results:

  • Mediterranean RET proto-oncogene genotype data largely resemble global data.
  • Specific pathogenic RET variants show higher frequencies in the Mediterranean region.
  • Founder effect phenomena likely explain the increased frequency of certain variants.

Conclusions:

  • The study highlights regional variations in pathogenic RET variants within the Mediterranean Basin.
  • Understanding these specific variants is crucial for targeted screening and management of MEN2.
  • Epidemiological data from this region informs clinical practice for affected families.
Keywords:
MEN2Mediterranean BasinRET proto-oncogenemedullary thyroid carcinoma

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