Characterization of RET proto-oncogene C634Y mutation in a Moroccan family with multiple endocrine neoplasia type 2A

Medullary thyroid carcinoma (MTC) is a rare cancer which originates from the calcitonin producing "C" cells of thyroid gland. It presents in as isolated form or as part of the multiple endocrine neoplasia type 2 (MEN 2). The familial form of MTC which frequency remains underestimated, account for 25 to 40% of all MTC presentations. All hereditary forms are transmitted in an autosomal dominant manner and are due to proto-oncogene RET germ line mutations. Although MCT is relatively rare, preclinical or prebiological diagnosis can be achieved with genetic screening with high specificity and sensitivity. Early diagnosis is crucial for disease prevention. In this study we identified the first RET mutation underlying NEM 2A in Morocco. The C634Y mutation was present in the heterozygous state in a Moroccan family with MEN 2A. Genetic screening showed that six asymptomatic members of this family were not C364Y carriers. This report should contribute to the development of genetic screening for NEM 2 and F-MTC in Morocco.