Genetic aspects of familial thyroid cancer.
Familial thyroid cancer is rare, accounting for <10% of thyroid cancer cases. Activating germline point mutations in the RET proto-oncogene are associated with multiple endocrine neoplasia types 2A, 2B, and familial medullary thyroid cancer (FMTC)-around 3% of thyroid cancer cases. Familial papillary thyroid cancer (PTC) and follicular thyroid cancer (FTC) have been identified as a distinct group of familial thyroid cancers. Sporadic nonmedullary thyroid cancer (NMTC) accounts for approximately 90% of all thyroid cancers-about 6% of NMTCs are familial (FNMTC). Although multiple endocrine neoplasia types 2A and 2B and FMTC are well characterized, very little is known about the genetic predisposition to PTC and FTC. In this paper, the genetic types of FMTC and FNMTC are reviewed and the clinical features and screening are outlined.
Morrison
Patrick J
PJ
Regional Medical Genetics Centre, Belfast City Hospital HSC Trust, Belfast BT9 7AB, United Kingdom. patrick.morrison@belfasttrust.hscni.net
Atkinson
A Brew
AB
D018276:Carcinoma, Medullary / Q000235:genetics; D002291:Carcinoma, Papillary / Q000235:genetics; D006801:Humans; D018761:Multiple Endocrine Neoplasia Type 1 / Q000235:genetics; D018813:Multiple Endocrine Neoplasia Type 2a / Q000235:genetics; D018814:Multiple Endocrine Neoplasia Type 2b / Q000235:genetics; D000090063:Proto-Oncogene Mas; D051096:Proto-Oncogene Proteins c-ret / Q000235:genetics; D013964:Thyroid Neoplasms / Q000235:genetics* / Q000601:surgery
C000715470:MAS1 protein, human; D000090063:Proto-Oncogene Mas; D051096:Proto-Oncogene Proteins c-ret; C099282:RET protein, human