hrp0089rfc5.5 | Thyroid | ESPE2018

Evidence for a Founder Effect in Multiple Endocrine Neoplasia 2

Fanis Pavlos , Skordis Nicos , Frangos Savvas , Christopoulos George , Spanou-Aristidou Elena , Andreou Elena , Manoli Panayiotis , Mavrommatis Michalis , Nicolaou Stella , Kleanthous Marina , Cariolou Marios A , Christophidou-Anastasiadou Violetta , Tanteles George A , Phylactou Leonidas A , Neocleous Vassos

Purpose: Multiple Endocrine Neoplasia type 2 (MEN2) affects patients with RET proto-oncogene mutations. This cohort study refer to patients who were diagnosed with familial medullary thyroid carcinoma (MTC) and underwent RET genetic testing in Cyprus between years 2002 and 2017.Methods and Patients: Forty patients underwent RET testing by Sanger sequencing of exons 10–11 and 13–16. Genotyping with STR genetic markers ...