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Genetic aspects of familial thyroid cancer

Patrick J Morrison1, A Brew Atkinson

  • 1Regional Medical Genetics Centre, Belfast City Hospital HSC Trust, Belfast BT9 7AB, United Kingdom. patrick.morrison@belfasttrust.hscni.net

The Oncologist
|May 26, 2009
PubMed

Insights

Familial thyroid cancer, though rare, includes well-characterized hereditary medullary thyroid cancer (FMTC) and less understood familial papillary/follicular thyroid cancer (PTC/FTC). This review covers genetic types, clinical features, and screening for these conditions.

Area of Science:

  • Oncology
  • Genetics
  • Endocrinology

Background:

  • Familial thyroid cancer comprises less than 10% of all thyroid cancer cases.
  • Activating germline point mutations in the RET proto-oncogene are linked to multiple endocrine neoplasia types 2A, 2B, and familial medullary thyroid cancer (FMTC).
  • Familial papillary thyroid cancer (PTC) and follicular thyroid cancer (FTC) represent a distinct group with less understood genetic predispositions.

Purpose of the Study:

  • To review the genetic types of familial medullary thyroid cancer (FMTC) and familial non-medullary thyroid cancer (FNMTC).
  • To outline the clinical features associated with these familial thyroid cancer subtypes.
  • To describe recommended screening protocols for individuals at risk.

Main Methods:

  • Literature review of genetic mutations and familial thyroid cancer syndromes.
  • Analysis of clinical characteristics reported in familial thyroid cancer cases.
  • Synthesis of current screening guidelines for hereditary thyroid cancer.

Main Results:

  • RET proto-oncogene mutations are key in FMTC and related syndromes.
  • Genetic underpinnings of familial PTC and FTC remain largely uncharacterized.
  • Distinct clinical presentations exist for different familial thyroid cancer types.

Conclusions:

  • While FMTC is well-defined, further research is needed into the genetics of familial PTC and FTC.
  • Understanding genetic predispositions is crucial for targeted screening and early detection.
  • Comprehensive management strategies should address both genetic and clinical aspects of familial thyroid cancer.

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