Non-medullary Thyroid Cancer Susceptibility Genes: Evidence and Disease Spectrum
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Author(s)
Zhou, Jingan
Singh, Preeti
Yin, Kanhua
Wang, Jin
Bao, Yujia
Wu, Menghua
Pathak, Kush
McKinley, Sophia K.
Braun, Danielle
Lubitz, Carrie C.
Date Issued
March 2021
Journal
Annals of Surgical Oncology
Publisher
Springer International Publishing
Citation
Zhou, Jingan, Singh, Preeti, Yin, Kanhua, Wang, Jin, Bao, Yujia et al. 2021. "Non-medullary Thyroid Cancer Susceptibility Genes: Evidence and Disease Spectrum."
Version
Author's final manuscript
Abstract
Abstract
Background
The prevalence of non-medullary thyroid cancer (NMTC) is increasing worldwide. Although most NMTCs grow slowly, conventional therapies are less effective in advanced tumors. Approximately 5–15% of NMTCs have a significant germline genetic component. Awareness of the NMTC susceptibility genes may lead to earlier diagnosis and better cancer prevention.
Objective
The aim of this study was to provide the current panorama of susceptibility genes associated with NMTC and the spectrum of diseases associated with these genes.
Methods
Twenty-five candidate genes were identified by searching for relevant studies in PubMed. Each candidate gene was carefully checked using six authoritative genetic resources: ClinGen, National Comprehensive Cancer Network guidelines, Online Mendelian Inheritance in Man, Genetics Home Reference, GeneCards, and Gene-NCBI, and a validated natural language processing (NLP)-based literature review protocol was used to further assess gene–disease associations where there was ambiguity.
Results
Among 25 candidate genes, 10 (APC, DICER1, FOXE1, HABP2, NKX2-1, PRKAR1A, PTEN, SDHB, SDHD, and SRGAP1) were verified among the six genetic resources. Two additional genes, CHEK2 and SEC23B, were verified using the NLP protocol. Seventy-nine diseases were found to be associated with these 12 NMTC susceptibility genes. The following diseases were associated with more than one NMTC susceptibility gene: colorectal cancer, breast cancer, gastric cancer, kidney cancer, gastrointestinal stromal tumor, paraganglioma, pheochromocytoma, and benign skin conditions.
Conclusion
Twelve genes predisposing to NMTC and their associated disease spectra were identified and verified. Clinicians should be aware that patients with certain pathogenic variants may require more aggressive surveillance beyond their thyroid cancer risk.
MIT Department
Massachusetts Institute of Technology. Computer Science and Artificial Intelligence Laboratory
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Article is made available in accordance with the publisher's policy and may be subject to US copyright law. Please refer to the publisher's site for terms of use.
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DOI of Published Version
https://doi.org/10.1245/s10434-021-09745-x
