ABSTRACT
Medullary thyroid carcinoma is a rare form of moderately differentiated thyroid carcinoma that is intricately linked to mutation in the RET proto-oncogene on chromosome 10q11.2. Its genetic basis has been extensively studied and linked to a predictable genotype-phenotype correlation. This has resulted in a better understanding of the molecular basis of this rare disease, thus opening up avenues for genetic counseling, genetic testing, targeted treatment strategies and prognostication. The authors have done a thorough literature review of the genetic basis and clinical presentation of MTC and its clinical implications for treatment of both patients and their kindred.
