Abstract
Single nucleotide polymorphisms (SNPs) can have a variety of implications for the progression and development of papillary thyroid carcinomas (PTCs). Identification of SNPs, either as germline variants or mutations occurring in tumor tissue, can thus have useful implications for patient management. There are many potential methods that can be used to identify a specific SNP or other genetic variant, and among these is high-resolution melting (HRM). HRM can be used to detect the presence of a genetic variant in a single sealed tube, involving undertaking a polymerase chain reaction (PCR) in the presence of a saturating intercalating dye. Once PCR is complete, the amplicons produced can be melted through incremental raising of the temperature and the genotype of individual samples determined by changes in the change in fluorescence as the fluorescent dye is released by the melting DNA. In this chapter, we detail a method for the genotyping of DNA samples using HRM.
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References
Ferlay J, Ervik M, Lam F, Colombet M, Mery L, Piñeros M, Znaor A, Soerjomataram I, Bray F (2020) Global cancer observatory: cancer today. International Agency for Research on Cancer, Lyon. Available from: https://gco.iarc.fr/today. Accessed 30 Apr 2021.
Abdullah MI, Junit SM, Ng KL, Jayapalan JJ, Karikalan B, Hashim OH (2019) Papillary thyroid cancer: genetic alterations and molecular biomarker investigations. Int J Med Sci 16(3):450–460. https://doi.org/10.7150/ijms.29935
Roman BR, Morris LG, Davies L (2017) The thyroid cancer epidemic, 2017 perspective. Curr Opin Endocrinol Diabetes Obes 24(5):332–336. https://doi.org/10.1097/MED.0000000000000359
Prete A, Borges de Souza P, Censi S, Muzza NN, Sponziello M (2020) Update on fundamental mechanisms of thyroid cancer. Front Endocrinol (Lausanne) 11:102. https://doi.org/10.3389/fendo.2020.00102
Basolo F, Giannini R, Faviana P, Fontanini G, Patricelli Malizia A, Ugolini C, Elisei R, Miccoli P, Toniolo A (2004) Thyroid papillary carcinoma: preliminary evidence for a germ-line single nucleotide polymorphism in the Fas gene. J Endocrinol 182(3):479–484. https://doi.org/10.1677/joe.0.1820479
Mohammadpour-Gharehbagh A, Heidari Z, Eskandari M, Aryan A, Salimi S (2020) Association between genetic polymorphisms in microrna machinery genes and risk of papillary thyroid carcinoma. Pathol Oncol Res 26(2):1235–1241. https://doi.org/10.1007/s12253-019-00688-z
Choi JH, Lee J, Yang S, Lee EK, Hwangbo Y, Kim J (2018) Genetic variations in TAS2R3 and TAS2R4 bitterness receptors modify papillary carcinoma risk and thyroid function in Korean females. Sci Rep 8(1):15004. https://doi.org/10.1038/s41598-018-33338-6
Song CM, Kwon TK, Park BL, Ji YB, Tae K (2015) Single nucleotide polymorphisms of ataxia telangiectasia mutated and the risk of papillary thyroid carcinoma. Environ Mol Mutagen 56(1):70–76. https://doi.org/10.1002/em.21898
Zhang X, Gu Y, Li Y, Cui H, Liu X, Sun H, Yu Q, Yu Y, Liu Y, Zhan S, Cheng Y (2020) Association of rs944289, rs965513, and rs1443434 in TITF1/TITF2 with risks of papillary thyroid carcinoma and with nodular goiter in Northern Chinese Han populations. Int J Endocrinol 2020:4539747. https://doi.org/10.1155/2020/4539747
Maruei-Milan R, Heidari Z, Salimi S (2019) Role of MDM2 309T>G (rs2279744) and I/D (rs3730485) polymorphisms and haplotypes in risk of papillary thyroid carcinoma, tumor stage, tumor size, and early onset of tumor: a case control study. J Cell Physiol 234(8):12934–12940. https://doi.org/10.1002/jcp.27960
Xu L, Doan PC, Wei Q, Liu Y, Li G, Sturgis EM (2012) Association of BRCA1 functional single nucleotide polymorphisms with risk of differentiated thyroid carcinoma. Thyroid 22(1):35–43. https://doi.org/10.1089/thy.2011.0117
Salajegheh A, Smith RA, Kasem K, Gopalan V, Nassiri MR, William R, Lam AK (2011) Single nucleotide polymorphisms and mRNA expression of VEGF-A in papillary thyroid carcinoma: potential markers for aggressive phenotypes. Eur J Surg Oncol 37(1):93–99. https://doi.org/10.1016/j.ejso.2010.10.010
Roncevic J, Djoric I, Selemetjev S, Jankovic J, Dencic TI, Bozic V, Cvejic D (2019) MMP-9-1562 C/T single nucleotide polymorphism associates with increased MMP-9 level and activity during papillary thyroid carcinoma progression. Pathology 51(1):55–61. https://doi.org/10.1016/j.pathol.2018.10.008
Jendrzejewski J, Liyanarachchi S, Nagy R, Senter L, Wakely PE, Thomas A, Nabhan F, He H, Li W, Sworczak K, Ringel MD, Kirschner LS, de la Chapelle A (2016) Papillary thyroid carcinoma: association between germline DNA variant markers and clinical parameters. Thyroid 26(9):1276–1284. https://doi.org/10.1089/thy.2015.0665
Er TK, Chang JG (2012) High-resolution melting: applications in genetic disorders. Clin Chim Acta 414:197–201. https://doi.org/10.1016/j.cca.2012.09.012
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Smith, R.A., Lam, A.K. (2022). Single Nucleotide Polymorphisms in Papillary Thyroid Carcinoma: Clinical Significance and Detection by High-Resolution Melting. In: Lam, A.K. (eds) Papillary Thyroid Carcinoma. Methods in Molecular Biology, vol 2534. Humana, New York, NY. https://doi.org/10.1007/978-1-0716-2505-7_11
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DOI: https://doi.org/10.1007/978-1-0716-2505-7_11
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