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Familiar Papillary Thyroid Carcinoma in a Large Brazilian Family Is Not Associated with Succinate Dehydrogenase Defects

机译:巴西大家庭中的熟悉的乳头状甲状腺癌与琥珀酸脱氢酶缺陷无关。

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摘要

BackgroundThyroid cancer is the most common endocrine gland malignancy. Advances in understanding the genetic basis for thyroid cancer revealed the potential involvement of several genes in the formation of thyroid tumors. Mutations in the gene coding for succinate dehydrogenase subtype B (SDHB) have been implicated in papillary thyroid cancer (PTC). Succinate dehydrogenase (SDH) is a heterotetrameric protein composed of four subunits, SDHA, SDHB, SDHC, and SDHD, and participates in both the electron transport chain and the tricarboxylic acid cycle. The aim of the study was to evaluate the association between variants in the SDHA, SDHB, SDHC, and SDHD genes and familiar PTC in a large Brazilian family.
机译:背景甲状腺癌是最常见的内分泌腺恶性肿瘤。在了解甲状腺癌的遗传基础方面的进展揭示了几种基因可能参与甲状腺肿瘤的形成。编码琥珀酸脱氢酶B亚型(SDHB)的基因突变与甲状腺乳头状癌(PTC)有关。琥珀酸脱氢酶(SDH)是由四个亚基SDHA,SDHB,SDHC和SDHD组成的异四聚体蛋白,既参与电子传输链又参与三羧酸循环。该研究的目的是评估SDHA,SDHB,SDHC和SDHD基因的变异与巴西大家庭中熟悉的PTC之间的关联。

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