title: Association studies in thyroid cancer susceptibility: are we on the right track?
abstract: It is widely accepted that thyroid cancer is strongly determined by the individual genetic background. In this regard, it is expected that sporadic thyroid cancer is the result of multiple low- to moderate-penetrance genes interacting with each other and with the environment, thus modulating individual susceptibility. In the last years, an important number of association studies on thyroid cancer have been published, trying to determine this genetic contribution. The aim of this review is to provide a comprehensive and critical evaluation of the associations reported so far in thyroid cancer susceptibility in case–control studies performed in both non-medullary (papillary and follicular) and medullary thyroid cancers, including their potential strengths and pitfalls. We summarize the genetic variants reported to date, and stress the importance of validating the results in independent series and assessing the functional role of the associated loci.
authors.affiliation: Hereditary Endocrine Cancer Group, Spanish National Cancer Research Centre (CNIO), Melchor Ferna´ndez Almagro 3, 28029 Madrid, Spain.
authors.forename: Iñigo
authors.initials: I
authors.lastname: Landa
authors.forename: Mercedes
authors.initials: M
authors.lastname: Robledo
mesh_terms: D018278:Carcinoma, Neuroendocrine; D051858:Forkhead Transcription Factors / Q000235:genetics / Q000378:metabolism; D052138:Genes, Neoplasm; D056726:Genetic Association Studies; D020022:Genetic Predisposition to Disease; D055106:Genome-Wide Association Study; D005838:Genotype; D006801:Humans; D020935:MAP Kinase Signaling System; D008957:Models, Genetic; D009154:Mutation; D013964:Thyroid Neoplasms / Q000235:genetics*
chemical_list: C106894:FOXE1 protein, human; D051858:Forkhead Transcription Factors