The value of genetic screening in medullary thyroid cancer

Medullary thyroid cancer (MTC) accounts for ~10% of thyroid carcinomas and occurs in sporadic and hereditary forms. Early diagnosis significantly impacts the clinical course, management and outcome of the disease. The identification of germline-activating mutations of the rearranged during transfection oncogene in patients with hereditary MTC led to significant progress in the diagnostic and therapeutic approach, thus improving the quality of care provided, and consequently, disease prognosis. In the present review, various aspects of genetic screening (GS) in MTC will be covered, which elucidate the value of GS in guiding clinical decision making, therapy selection and appropriate genetic counseling of the affected families. GS should be offered to every MTC patient, based on the personal and family medical history, to allow optimal clinical management and follow-up.