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Multiple endocrine neoplasia 2 in Cyprus: evidence for a founder effect
P Fanis1, N Skordis1,2,3, S Frangos4
1Department of Molecular Genetics, Function and Therapy, The Cyprus Institute of Neurology and Genetics, P.O. Box 23462, 1683, Nicosia, Cyprus.
Journal of Endocrinological Investigation
|February 4, 2018
Summary
The RET p.Cys618Arg mutation is most common in Cyprus for familial medullary thyroid carcinoma (MTC). Haplotype analysis suggests this RET mutation may be ancestral, possibly due to a founder effect in Cyprus.
Area of Science:
- Genetics
- Oncology
- Endocrinology
Background:
- Multiple endocrine neoplasia type 2 (MEN2) is linked to RET proto-oncogene mutations.
- Familial medullary thyroid carcinoma (MTC) is a key component of MEN2.
Purpose of the Study:
- To investigate RET proto-oncogene mutations in Cypriot patients with familial MTC.
- To determine the prevalence and origins of specific RET mutations in Cyprus.
Main Methods:
- Sanger sequencing of RET exons 10-11 and 13-16 was performed on 40 patients.
- STR genetic markers and Y-chromosome genotyping were used for haplotype analysis.
Main Results:
- RET mutations were found in 40 patients from 11 families and 2 sporadic cases.
- The p.Cys618Arg mutation was the most prevalent (69.2%), followed by p.Cys634Phe, delE632-L633, and p.Met918Thr.
- Haplotype analysis identified a core haplotype associated with p.Cys618Arg, suggesting a founder effect.
Conclusions:
- The p.Cys618Arg mutation is the predominant RET mutation in Cyprus.
- Evidence suggests p.Cys618Arg is an ancestral mutation spread via a founder effect in the Cypriot population.
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