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Genetic Aspects of Familial Thyroid Cancer

^aRegional Medical Genetics Centre, Belfast City Hospital, Belfast, United Kingdom; ^bRegional Centre for Endocrinology and Diabetes, Royal Victoria Hospital, Belfast, United Kingdom

Key Words. Thyroid cancer • Familial • RET • Medullary

Correspondence: Correspondence: Patrick J. Morrison, M.D., Regional Medical Genetics Centre, Belfast City Hospital HSC Trust, Belfast, BT9 7AB, United Kingdom. Telephone: 44-0-28-9026-3872; Fax: 44-0-28-9023-6911; e-mail: patrick.morrison{at}belfasttrust.hscni.net

Received March 12, 2009; accepted for publication April 20, 2009.

Disclosures: Patrick J. Morrison: None; A. Brew Atkinson: None. Section editors to come.

The content of this article has been reviewed by independent peer reviewers to ensure that it is balanced, objective, and free from commercial bias.

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 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.