Association studies in thyroid cancer susceptibility: are we on the right track?

    1. Mercedes Robledo1,2
    1. 1Hereditary Endocrine Cancer Group, Spanish National Cancer Research Centre (CNIO), Melchor Fernández Almagro 3, 28029 Madrid, Spain
      2Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), Madrid, Spain
    1. (Correspondence should be addressed to M Robledo at Hereditary Endocrine Cancer Group, Spanish National Cancer Research Centre (CNIO); Email: mrobledo{at}cnio.es)

    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.

    • Revision received 11 May 2011
    • Accepted 23 May 2011
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