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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
<p>Supplemental Table 2. Hereditary cancer syndromes associated with increased non-medullary thyroid cancer risk</p>

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Pennsylvania Department of Health Tobacco

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    DOI - Is supplement to Genetic Variants Implicate Dual Oxidase-2 in Familial and Sporadic Nonmedullary Thyroid Cancer

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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    CarcinogenesisDna Damage And RepairEndocrine-Related Cancers

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