Fig. 4

Graph illustrating the number of patients referred to MGFT for RET proto-oncogene genetic diagnosis. A total of 517 patients with suspected as having MEN2 have been tested since 2002 and 58 (11.2%) were identified to share an AD pathogenic variant in the RET proto-oncogene. All identified pathogenic variants are indicated in the square box within the graph. Haplotype analysis with microsatellite markers demonstrated that all 12 probands and family members with p.Cys618Arg carried a core haplotype due to a possible founder effect in the island of Cyprus