Thyroid cancer has one of the highest hereditary component among human malignancies as seen in medical epidemiology investigations, suggesting the potential meaningfulness of genetic studies. Here we review researches into genetic variations that influence the chance of developing non-familial differentiated thyroid cancer (DTC), focusing on the major findings of the genome-wide association studies (GWASs) of common single-nucleotide polymorphisms (SNPs). To date, eight GWAS have been performed, and the association of a number of SNPs have been reproduced in dozens of replication investigations across different ethnicities, including Korea and Japan. Despite the cumulative effect of the strongest SNPs demonstrates gradual increase in the risk for cancer and their association signals are statistically quite significant, the overall prediction ability for DTC appears to be very limited. Thus, genotyping of common SNPs only would be insufficient for evidence-based counseling in clinical setting at present. Further studies to include less significant and rare SNPs, non-SNP genetic information, gene-gene interactions, ethnicity, non-genetic and environmental factors, and development of more advanced computational algorithms are warranted to approach to personalized disease risk prediction and prognostication.

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• Radiation-Related Thyroid Cancer
  Vladimir Saenko, Norisato Mitsutake
  Endocrine Reviews.2024; 45(1): 1.     CrossRef
• Gene variants polymorphisms and uterine leiomyoma: an updated review
  Sonal Upadhyay, Pawan K. Dubey
  Frontiers in Genetics.2024;[Epub]     CrossRef
• Disease-associated non-coding variants alter NKX2-5 DNA-binding affinity
  Edwin G. Peña-Martínez, Alejandro Rivera-Madera, Diego A. Pomales-Matos, Leandro Sanabria-Alberto, Brittany M. Rosario-Cañuelas, Jessica M. Rodríguez-Ríos, Emanuel A. Carrasquillo-Dones, José A. Rodríguez-Martínez
  Biochimica et Biophysica Acta (BBA) - Gene Regulatory Mechanisms.2023; 1866(1): 194906.     CrossRef
• The Role of Genetic Polymorphisms in Differentiated Thyroid Cancer: A 2023 Update
  Robert Aurelian Tiucă, Oana Mirela Tiucă, Ionela Maria Pașcanu
  Biomedicines.2023; 11(4): 1075.     CrossRef
• Genetic susceptibility to hereditary non-medullary thyroid cancer
  Tina Kamani, Parsa Charkhchi, Afshan Zahedi, Mohammad R. Akbari
  Hereditary Cancer in Clinical Practice.2022;[Epub]     CrossRef
• Genetic signature of differentiated thyroid carcinoma susceptibility: a machine learning approach
  Giulia Brigante, Clara Lazzaretti, Elia Paradiso, Federico Nuzzo, Martina Sitti, Frank Tüttelmann, Gabriele Moretti, Roberto Silvestri, Federica Gemignani, Asta Försti, Kari Hemminki, Rossella Elisei, Cristina Romei, Eric Adriano Zizzi, Marco Agostino Der
  European Thyroid Journal.2022;[Epub]     CrossRef
• Study of single nucleotide polymorphism of vascular endothelium factor in patients with differentiated thyroid cancer
  Mohamad Mohsen Motawea, Maysaa El Sayed Zaki, Maha Saif, Asmaa Osama BS Osman, Aml Mohamed Nada
  Clinical Diabetes and Endocrinology.2022;[Epub]     CrossRef
• The Contribution of Genetic Variants to the Risk of Papillary Thyroid Carcinoma in the Kazakh Population: Study of Common Single Nucleotide Polymorphisms and Their Clinicopathological Correlations
  Zhanna Mussazhanova, Tatiana I. Rogounovitch, Vladimir A. Saenko, Ainur Krykpayeva, Maira Espenbetova, Bauyrzhan Azizov, Hisayoshi Kondo, Katsuya Matsuda, Zhanna Kalmatayeva, Raushan Issayeva, Zhanar Yeleubayeva, Madina Madiyeva, Aray Mukanova, Marat Sand
  Frontiers in Endocrinology.2021;[Epub]     CrossRef
• Incidence of the CHEK2 Germline Mutation and Its Impact on Clinicopathological Features, Treatment Responses, and Disease Course in Patients with Papillary Thyroid Carcinoma
  Danuta Gąsior-Perczak, Artur Kowalik, Krzysztof Gruszczyński, Agnieszka Walczyk, Monika Siołek, Iwona Pałyga, Sławomir Trepka, Estera Mikina, Tomasz Trybek, Janusz Kopczyński, Agnieszka Suligowska, Rafał Ślusarczyk, Agnieszka Gonet, Jarosław Jaskulski, Pa
  Cancers.2021; 13(3): 470.     CrossRef
• Carcinoma diferenciado de tiroides familiar: más allá de las formas sindrómicas
  Aida Orois, Mireia Mora, Irene Halperin, Josep Oriola
  Endocrinología, Diabetes y Nutrición.2021; 68(4): 260.     CrossRef
• Gene network and biological pathways associated with susceptibility to differentiated thyroid carcinoma
  Om Kulkarni, Pierre-Emmanuel Sugier, Julie Guibon, Anne Boland-Augé, Christine Lonjou, Delphine Bacq-Daian, Robert Olaso, Carole Rubino, Vincent Souchard, Frédérique Rachedi, Juan Jesus Lence-Anta, Rosa Maria Ortiz, Constance Xhaard, Pierre Laurent-Puig,
  Scientific Reports.2021;[Epub]     CrossRef
• Familial non medullary thyroid carcinoma: Beyond the syndromic forms
  Aida Orois, Mireia Mora, Irene Halperin, Josep Oriola
  Endocrinología, Diabetes y Nutrición (English ed.).2021; 68(4): 260.     CrossRef
• Discrimination between 34 of 36 Possible Combinations of Three C>T SNP Genotypes in the MGMT Promoter by High Resolution Melting Analysis Coupled with Pyrosequencing Using A Single Primer Set
  Katja Zappe, Christine Pirker, Heidi Miedl, Martin Schreiber, Petra Heffeter, Georg Pfeiler, Stefan Hacker, Werner Haslik, Sabine Spiegl-Kreinecker, Margit Cichna-Markl
  International Journal of Molecular Sciences.2021; 22(22): 12527.     CrossRef
• Emerging Biomarkers in Thyroid Practice and Research
  Shipra Agarwal, Andrey Bychkov, Chan-Kwon Jung
  Cancers.2021; 14(1): 204.     CrossRef
• The effects of the genetic polymorphisms of antioxidant enzymes on susceptibility to papillary thyroid carcinoma
  Saeedeh Salimi, Mahdiyeh Harati‐Sadegh, Moein Eskandari, Zahra Heidari
  IUBMB Life.2020; 72(5): 1045.     CrossRef
• Familial Aggregation and Heritability of Nonmedullary Thyroid Cancer in an Asian Population: A Nationwide Cohort Study
  Huan-Tang Lin, Fu-Chao Liu, Shu-Fu Lin, Chang-Fu Kuo, Yu-Ying Chen, Huang-Ping Yu
  The Journal of Clinical Endocrinology & Metabolism.2020; 105(7): e2521.     CrossRef
• Does the TT Variant of the rs966423 Polymorphism in DIRC3 Affect the Stage and Clinical Course of Papillary Thyroid Cancer?
  Kinga Hińcza, Artur Kowalik, Iwona Pałyga, Agnieszka Walczyk, Danuta Gąsior-Perczak, Estera Mikina, Tomasz Trybek, Monika Szymonek, Klaudia Gadawska-Juszczyk, Klaudia Zajkowska, Agnieszka Suligowska, Artur Kuchareczko, Karol Krawczyk, Janusz Kopczyński, M
  Cancers.2020; 12(2): 423.     CrossRef
• The effect of TP53 and P21 gene polymorphisms on papillary thyroid carcinoma susceptibility and clinical/pathological features
  Zahra Heidari, Mahdiyeh Harati‐Sadegh, Abtin Arian, Rostam Maruei‐Milan, Saeedeh Salimi
  IUBMB Life.2020; 72(5): 922.     CrossRef
• Feasibility Study Shows Multicenter, Observational Case-Control Study Is Practicable to Determine Risk of Secondary Breast Cancer in Females With Differentiated Thyroid Carcinoma Given Radioiodine Therapy in Their Childhood or Adolescence; Findings Also S
  Valentina Drozd, Rita Schneider, Tamara Platonova, Galina Panasiuk, Tatjana Leonova, Nataliya Oculevich, Irina Shimanskaja, Irina Vershenya, Tatjana Dedovich, Tatjana Mitjukova, Inge Grelle, Johannes Biko, Christoph Reiners
  Frontiers in Endocrinology.2020;[Epub]     CrossRef
• Genetic Mutations and Variants in the Susceptibility of Familial Non-Medullary Thyroid Cancer
  Fabíola Yukiko Miasaki, Cesar Seigi Fuziwara, Gisah Amaral de Carvalho, Edna Teruko Kimura
  Genes.2020; 11(11): 1364.     CrossRef
• Current Knowledge of Germline Genetic Risk Factors for the Development of Non-Medullary Thyroid Cancer
  Kinga Hińcza, Artur Kowalik, Aldona Kowalska
  Genes.2019; 10(7): 482.     CrossRef
• Thyroid Cancer: The Quest for Genetic Susceptibility Involving DNA Repair Genes
  Santos, Gomes, Bastos, Gil, Azevedo, Ferreira, Limbert, Silva, Rueff
  Genes.2019; 10(8): 586.     CrossRef
• Effect of the thymine‐DNA glycosylase rs4135050 variant on Saudi smoker population
  Mikhlid Almutairi, Abdullah Mohammad Alhadeq, Rafa Almeer, Mohammed Almutairi, Mohammed Alzahrani, Abdelhabib Semlali
  Molecular Genetics & Genomic Medicine.2019;[Epub]     CrossRef
• Association of Vitamin D Pathway Genetic Variation and Thyroid Cancer
  Isabel S. Carvalho, Catarina I. Gonçalves, Joana T. Almeida, Teresa Azevedo, Teresa Martins, Fernando J. Rodrigues, Manuel C. Lemos
  Genes.2019; 10(8): 572.     CrossRef
• Association of radiation risk in the second and third generations with polymorphisms in the genes CYP1A1, CYP2E1, GSTP1 and changes in the thyroid
  Meruyert Massabayeva, Nailya Chaizhunusova, Nurlan Aukenov, Tolkyn Bulegenov, Bakytbek Apsalikov, Aigerim Shapihanova, Yersin Zhunussov
  Molecular Medicine.2019;[Epub]     CrossRef
• BRAF‐positive multifocal and unifocal papillary thyroid cancer show different messenger RNA expressions
  Kyoungjune Pak, Sunghwan Suh, Tae Sik Goh, Seong‐Jang Kim, Sae‐Ock Oh, Ju Won Seok, In Joo Kim, Yun Hak Kim
  Clinical Endocrinology.2019; 90(4): 601.     CrossRef