title: Intragenic mutations in thyroid cancer.
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.
authors.affiliation: Institute of Molecular Pathology and Immunology of the University of Porto, Rua Roberto Frias s/n, 4200-465 Porto, Portugal.
authors.forename: Manuel
authors.initials: M
authors.lastname: Sobrinho-Simões
authors.forename: Valdemar
authors.initials: V
authors.lastname: Máximo
authors.forename: Ana Sofia
authors.initials: AS
authors.lastname: Rocha
authors.forename: Vitor
authors.initials: V
authors.lastname: Trovisco
authors.forename: Patricia
authors.initials: P
authors.lastname: Castro
authors.forename: Ana
authors.initials: A
authors.lastname: Preto
authors.forename: Jorge
authors.initials: J
authors.lastname: Lima
authors.forename: Paula
authors.initials: P
authors.lastname: Soares
mesh_terms: D000782:Aneuploidy; D002277:Carcinoma / Q000235:genetics*; D002952:Citric Acid Cycle / Q000235:genetics; D019204:GTP-Binding Proteins / Q000235:genetics / Q000502:physiology; D011905:Genes, ras / Q000502:physiology; D006801:Humans; D009154:Mutation / Q000502:physiology; D010085:Oxidative Phosphorylation; D000072636:PAX8 Transcription Factor; D047495:PPAR gamma / Q000235:genetics; D051761:Paired Box Transcription Factors / Q000235:genetics; D048493:Proto-Oncogene Proteins B-raf / Q000235:genetics; D011989:Receptors, Thyrotropin / Q000235:genetics / Q000502:physiology; D011993:Recombinant Fusion Proteins / Q000235:genetics; D013385:Succinate Dehydrogenase / Q000235:genetics; D013964:Thyroid Neoplasms / Q000235:genetics*
chemical_list: D000072636:PAX8 Transcription Factor; C083325:PAX8 protein, human; D047495:PPAR gamma; D051761:Paired Box Transcription Factors; D011989:Receptors, Thyrotropin; D011993:Recombinant Fusion Proteins; D013385:Succinate Dehydrogenase; C482119:BRAF protein, human; D048493:Proto-Oncogene Proteins B-raf; D019204:GTP-Binding Proteins