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RET proto-oncogene mutations are restricted to codon 618 in Cypriot families with multiple endocrine neoplasia 2

V Neocleous1, N Skordis, G Portides

  • 1Department of Molecular Genetics, Function and Therapy, Cyprus Institute of Neurology and Genetics, P.O. Box 23462, 1683 Nicosia, Cyprus.

Journal of Endocrinological Investigation
|March 23, 2011
PubMed
Abstract

Insights

A common RET C618R mutation was found in Cypriot patients with multiple endocrine neoplasia type 2 (MEN2), suggesting a founder effect. The G691S and S904S RET variants were not associated with the disease in this cohort.

Area of Science:

  • Oncology
  • Genetics
  • Endocrinology

Background:

  • Multiple endocrine neoplasia type 2 (MEN2) is an inherited cancer syndrome linked to RET germline mutations.
  • RET proto-oncogene variants, such as G691S and S904S, have been investigated as potential genetic modifiers influencing the age of MEN2 onset.

Observation:

  • This study investigated 8 Cypriot patients (7 familial medullary thyroid carcinoma, 1 MEN2A) and 226 healthy controls.
  • Molecular screening identified the germline C618R mutation in exon 10 of the RET gene in all 8 patients and 15 relatives across 7 families.

Findings:

  • The C618R mutation was consistently identified in all unrelated Cypriot patients, indicating a possible founder effect.
  • Allele frequencies of the RET variants G691S and S904S did not differ significantly between patients (25%) and controls (27.4%).

Implications:

  • The findings suggest a common ancestral origin for the C618R mutation in the Cypriot population with MEN2.
  • The study concludes that the G691S and S904S RET variants are not associated with MEN2 in this cohort, ruling them out as disease modifiers in this context.

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