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- W2972487022 abstract "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. Significance: This study provides novel insights into the genetic and molecular mechanisms underlying familial and sporadic thyroid cancers." @default.
- W2972487022 created "2019-09-19" @default.
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- W2972487022 date "2019-11-01" @default.
- W2972487022 modified "2023-10-18" @default.
- W2972487022 title "Genetic Variants Implicate Dual Oxidase-2 in Familial and Sporadic Nonmedullary Thyroid Cancer" @default.
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- W2972487022 doi "https://doi.org/10.1158/0008-5472.can-19-0721" @default.
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