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First Published Online May 22, 2009
The Oncologist, Vol. 14, No. 6, 571-577, June 2009; doi:10.1634/theoncologist.2009-0046
© 2009 AlphaMed Press

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Clinical Genetics and Genetic Counseling

Genetic Aspects of Familial Thyroid Cancer

Patrick J. Morrisona, A. Brew Atkinsonb

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: 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; first published online in THE ONCOLOGIST Express on May 22, 2009.

Disclosures

Patrick J. Morrison: None; A. Brew Atkinson: None.

Section editor Paula Ryan has disclosed no financial relationships relevant to the content of this article.

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.






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