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KMID : 0356620090240040293
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Journal of Korean Society of Endocrinology
2009 Volume.24 No. 4 p.293 ~ p.297
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A Case of Sporadic Medullary Thyroid Cancer with RET G691S Polymorphism
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Kang Min-Kyu
Lee Jung-Min
Kim Ji-Hyun
Lee Min-Young
Kim Ji-Hyun
Moon Sung-Dae
Han Je-Ho
Chang Sang-Ah
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Abstract
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Sporadic medullary thyroid carcinoma (MTC) is the most common form of MTC and somatic RET proto-oncogene mutations account for approximately 25% of the patients with sporadic MTC. However, other pathogeneses of sporadic MTC are still unclear. Not only RET mutation, but also polymorphisms of RET may have an association with sporadic MTC. We herein describe the association of MTC and RET proto-oncogene polymorphism. A 51-year-old man was diagnosed with MTC, which was incidentally found on a thyroid sonogram. The patient underwent total thyroidectomy and genetic mutational analysis of the RET gene. Genetic testing detected a polymorphism in codon 691 (G691S) on exon 11 of the RET proto-oncogene. His son and daughter had the same polymorphism. We report on this case along with a review of the related literature on RET gene polymorphism of sporadic MTC.
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KEYWORD
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polymorphism, RET proto-oncogene, sporadic medullary thyroid carcinoma
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