Thyroid cancer genetics: multiple endocrine neoplasia type 2, non-medullary familial thyroid cancer, and familial syndromes associated with thyroid cancer.
Familial thyroid cancer accounts for 25% of medullary thyroid cancer (MTC) and 5% of non-medullary thyroid cancer. All patients who have familial MTC have one of three variants of multiple endocrine neoplasia type 2 that are defined by specific mutations in the rearranged during transfection (RET) proto-oncogene. Patients who have familial nonmedullary familial thyroid cancer most likely have a mutation that is autosomal dominant with reduced penetrance. Thyroid cancer also is associated with a number of familial syndromes. This article focuses on the genetics and management of familial thyroid cancers and the syndromes associated with thyroid cancer.
Richards
Melanie L
ML
Department of Surgery, Mayo Clinic, Rochester, MN 55905, USA. richards.melanie@mayo.edu
D004252:DNA Mutational Analysis; D005820:Genetic Testing; D005838:Genotype; D018095:Germ-Line Mutation; D006801:Humans; D018813:Multiple Endocrine Neoplasia Type 2a / Q000175:diagnosis / Q000235:genetics* / Q000401:mortality / Q000601:surgery; D009386:Neoplastic Syndromes, Hereditary / Q000175:diagnosis / Q000235:genetics* / Q000401:mortality / Q000601:surgery; D010641:Phenotype; D000090063:Proto-Oncogene Mas; D012307:Risk Factors; D013964:Thyroid Neoplasms / Q000175:diagnosis / Q000235:genetics* / Q000401:mortality / Q000601:surgery