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Non-medullary Thyroid Cancer Susceptibility Genes: Evidence and Disease Spectrum

Jingan Zhou1,2, Preeti Singh2, Kanhua Yin2,3

  • 1Department of General Surgery, Beijing Anzhen Hospital, Capital Medical University, Beijing, China.

Annals of Surgical Oncology
|March 4, 2021
PubMed
Abstract

Insights

Twelve genes predispose to non-medullary thyroid cancer (NMTC) and are linked to numerous other diseases. Identifying these NMTC susceptibility genes aids in earlier diagnosis and tailored cancer prevention strategies.

Area of Science:

  • Genetics
  • Oncology
  • Molecular Biology

Background:

  • Non-medullary thyroid cancer (NMTC) prevalence is rising globally.
  • Advanced NMTCs are often resistant to conventional therapies.
  • Germline genetic factors contribute to 5-15% of NMTC cases.

Purpose of the Study:

  • To identify susceptibility genes for non-medullary thyroid cancer (NMTC).
  • To delineate the spectrum of diseases associated with these NMTC susceptibility genes.

Main Methods:

  • Systematic literature search of PubMed for candidate NMTC genes.
  • Verification of candidate genes using six authoritative genetic databases.
  • Natural language processing (NLP) protocol for ambiguous gene-disease associations.

Main Results:

  • Twelve NMTC susceptibility genes were identified and verified: APC, DICER1, FOXE1, HABP2, NKX2-1, PRKAR1A, PTEN, SDHB, SDHD, SRGAP1, CHEK2, and SEC23B.
  • These 12 genes are associated with 79 distinct diseases.
  • Multiple NMTC genes are linked to colorectal, breast, gastric, and kidney cancers, as well as paraganglioma and pheochromocytoma.

Conclusions:

  • A definitive list of 12 NMTC predisposition genes and their associated diseases has been established.
  • Pathogenic variants in these genes may necessitate enhanced surveillance protocols for patients beyond thyroid cancer risk.

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