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pubmed:abstractText |
Multiple endocrine neoplasias, type 2A and type 2B (MEN2A, MEN2B), and familial medullary thyroid carcinoma (FMTC) have an autosomal dominant mode of inheritance. The risk of passing on the disease is almost 50%. Early diagnosis and surgical intervention largely prevents aggressive metastasis of thyroid carcinoma, the main cause of death. The diagnostic possibilities have been much improved by the implementation of direct gene testing. Exclusion of the inheritance of a parental mutation in the RET proto-oncogene removes the potential risk of progeny contracting the disease, and obviates the need for the usual annual screening from age 5 years onward. In many of those cases in whom a mutation is detected, prophylactic surgical intervention should be considered.
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