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Supplementary Table S2 from Genetic Variants Implicate Dual Oxidase-2 in Familial and Sporadic Nonmedullary Thyroid Cancer

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posted on 2023-03-31, 03:46 authored by Darrin V. Bann, Qunyan Jin, Kathryn E. Sheldon, Kenneth R. Houser, Lan Nguyen, Joshua I. Warrick, Maria J. Baker, James R. Broach, Glenn S. Gerhard, David Goldenberg

Supplemental Table 2. Hereditary cancer syndromes associated with increased non-medullary thyroid cancer risk

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Pennsylvania Department of Health Tobacco

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ARTICLE ABSTRACT

Highly penetrant hereditary thyroid cancer manifests as familial nonmedullary thyroid cancer (FNMTC), whereas low-penetrance hereditary thyroid cancer manifests as sporadic disease and is associated with common polymorphisms, including rs965513[A]. Whole-exome sequencing of an FNMTC kindred identified a novel Y1203H germline dual oxidase-2 (DUOX2) mutation. DUOX2Y1203H is enzymatically active, with increased production of reactive oxygen species. Furthermore, patients with sporadic thyroid cancer homozygous for rs965513[A] demonstrated higher DUOX2 expression than heterozygous rs965513[A/G] or homozygous rs965513[A]-negative patients. These data suggest that dysregulated hydrogen peroxide metabolism is a common mechanism by which high- and low-penetrance genetic factors increase thyroid cancer risk. This study provides novel insights into the genetic and molecular mechanisms underlying familial and sporadic thyroid cancers.

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