Abstract
The close genotype-phenotype relationship that characterizes thyroid oncology stimulated the authors to address this article by using a mixed, genetic and phenotypic approach. As such, this article addresses the following aspects of intragenic mutations in thyroid cancer: thyroid stimulating hormone receptor and guanine-nucleotide-binding proteins of the stimulatory family mutations in hyperfunctioning tumors; mutations in RAS and other genes and aneuploidy; PAX8-PPARgamma rearrangements; BRAF mutations; mutations in oxidative phosphorylation and Krebs cycle genes in Hürthle cell tumors; mutations in succinate dehydrogenase genes in medullary carcinoma and C-cell hyperplasia; and mutations in TP53 and other genes in poorly differentiated and anaplastic carcinomas.
Publication types
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Research Support, Non-U.S. Gov't
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Review
MeSH terms
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Aneuploidy
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Carcinoma / genetics*
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Citric Acid Cycle / genetics
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GTP-Binding Proteins / genetics
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GTP-Binding Proteins / physiology
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Genes, ras / physiology
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Humans
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Mutation* / physiology
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Oxidative Phosphorylation
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PAX8 Transcription Factor
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PPAR gamma / genetics
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Paired Box Transcription Factors / genetics
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Proto-Oncogene Proteins B-raf / genetics
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Receptors, Thyrotropin / genetics
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Receptors, Thyrotropin / physiology
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Recombinant Fusion Proteins / genetics
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Succinate Dehydrogenase / genetics
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Thyroid Neoplasms / genetics*
Substances
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PAX8 Transcription Factor
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PAX8 protein, human
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PPAR gamma
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Paired Box Transcription Factors
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Receptors, Thyrotropin
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Recombinant Fusion Proteins
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Succinate Dehydrogenase
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BRAF protein, human
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Proto-Oncogene Proteins B-raf
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GTP-Binding Proteins