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Thyroid Cancer: The Quest for Genetic Susceptibility Involving DNA Repair Genes

Centre for Toxicogenomics and Human Health, Genetics, Oncology and Human Toxicology, NOVA Medical School|Faculdade de Ciências Médicas, Universidade Nova de Lisboa, 1169-056 Lisboa, Portugal
Universidade Católica Portuguesa, Center for Interdisciplinary Research in Health (CIIS), Institute of Health Sciences (ICS), 3504-505 Viseu, Portugal
Department of Pneumology, Centro Hospitalar São João, 4200–319 Porto, Portugal
Faculdade de Medicina, Universidade do Porto, 4200-319 Porto, Portugal
IBMC/i3S - Instituto de Biologia Molecular e Celular/Instituto de Investigação e Inovação em Saúde, Universidade do Porto, 4200-135 Porto, Portugal
Centro de Ciências e Tecnologias Nucleares, Instituto Superior Técnico, Universidade de Lisboa, 2695-066 Bobadela LRS, Loures, Portugal
Department of Clinical Pathology, Hospital São Francisco Xavier, 1449-005 Lisboa, Portugal
Serviço de Medicina Nuclear, Instituto Português de Oncologia de Lisboa (IPOLFG), 1099-023 Lisboa, Portugal
Serviço de Endocrinologia, Instituto Português de Oncologia de Lisboa (IPOLFG), 1099-023 Lisboa, Portugal
Authors to whom correspondence should be addressed.
Genes 2019, 10(8), 586;
Received: 19 June 2019 / Revised: 10 July 2019 / Accepted: 30 July 2019 / Published: 1 August 2019
(This article belongs to the Special Issue Thyroid Cancer: Genetics and Targeted Therapies)
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The incidence of thyroid cancer (TC), particularly well-differentiated forms (DTC), has been rising and remains the highest among endocrine malignancies. Although ionizing radiation (IR) is well established on DTC aetiology, other environmental and genetic factors may also be involved. DNA repair single nucleotide polymorphisms (SNPs) could be among the former, helping in explaining the high incidence. To further clarify the role of DNA repair SNPs in DTC susceptibility, we analyzed 36 SNPs in 27 DNA repair genes in a population of 106 DTCs and corresponding controls with the aim of interpreting joint data from previously studied isolated SNPs in DNA repair genes. Significant associations with DTC susceptibility were observed for XRCC3 rs861539, XPC rs2228001, CCNH rs2230641, MSH6 rs1042821 and ERCC5 rs2227869 and for a haplotype block on chromosome 5q. From 595 SNP-SNP combinations tested and 114 showing relevance, 15 significant SNP combinations (p < 0.01) were detected on paired SNP analysis, most of which involving CCNH rs2230641 and mismatch repair variants. Overall, a gene-dosage effect between the number of risk genotypes and DTC predisposition was observed. In spite of the volume of data presented, new studies are sought to provide an interpretability of the role of SNPs in DNA repair genes and their combinations in DTC susceptibility. View Full-Text
Keywords: Thyroid cancer; DNA repair; genetic susceptibility; genetic markers; SNPs Thyroid cancer; DNA repair; genetic susceptibility; genetic markers; SNPs

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Santos, L.S.; Gomes, B.C.; Bastos, H.N.; Gil, O.M.; Azevedo, A.P.; Ferreira, T.C.; Limbert, E.; Silva, S.N.; Rueff, J. Thyroid Cancer: The Quest for Genetic Susceptibility Involving DNA Repair Genes. Genes 2019, 10, 586.

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