家族性非髓样甲状腺癌中HABP2 G534E变异：一项意大利研究系列
HABP2 G534E variation in familial non-medullary thyroid cancer: an Italian series.
作者信息
Cantara S, Marzocchi C, Castagna M G, Pacini F
机构信息
Department of Medical, Surgical and Neurological Sciences, University of Siena, Siena, Italy.
出版信息
J Endocrinol Invest. 2017 May;40(5):557-560. doi: 10.1007/s40618-016-0583-9. Epub 2016 Nov 21.
INTRODUCTION
Thyroid cancer may have a familial predisposition and may occur in the context of hereditary syndromes or as isolated tumor. Recently, the G534E variant in the HABP2 gene has been suggested as causative mutation for familial thyroid cancer, but other studies gave contradictory results.
METHODS
We have analyzed the G534E variant in an Italian series of 63 familial thyroid cancer patients and 41 unaffected family members with end-point PCR, DHPLC and direct sequencing.
RESULTS
All samples analyzed displayed a pattern typical of the homozygous wild type revealing the absence of the G534E variant.
CONCLUSION
In this study, HABP2 G534E variant is not correlated with the familial form of PTC.
引言
甲状腺癌可能具有家族易感性，可发生于遗传性综合征背景下或作为孤立性肿瘤出现。最近，HABP2基因中的G534E变异被认为是家族性甲状腺癌的致病突变，但其他研究得出了相互矛盾的结果。
方法
我们采用终点PCR、变性高效液相色谱（DHPLC）和直接测序法，对一组63例意大利家族性甲状腺癌患者及41名未受影响的家庭成员中的G534E变异进行了分析。
结果
所有分析样本均显示出典型的纯合野生型模式，表明不存在G534E变异。
结论
在本研究中，HABP2 G534E变异与甲状腺乳头状癌的家族形式无关。
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