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甲状腺癌二代测序面板ThyroSeq v.2简明图谱

A Concise Atlas of Thyroid Cancer Next-Generation Sequencing Panel ThyroSeq v.2.

作者信息

Alsina Jorge, Alsina Raul, Gulec Seza

机构信息

Florida International University Herbert Wertheim College of Medicine, Departments of Surgery and Nuclear Medicine, Miami, USA, E-mail:

出版信息

Mol Imaging Radionucl Ther. 2017 Feb 9;26(Suppl 1):102-117. doi: 10.4274/2017.26.suppl.12.

Abstract

The next-generation sequencing technology allows high out-put genomic analysis. An innovative assay in thyroid cancer, ThyroSeq® was developed for targeted mutation detection by next generation sequencing technology in fine needle aspiration and tissue samples. ThyroSeq v.2 next generation sequencing panel offers simultaneous sequencing and detection in >1000 hotspots of 14 thyroid cancer-related genes and for 42 types of gene fusions known to occur in thyroid cancer. ThyroSeq is being increasingly used to further narrow the indeterminate category defined by cytology for thyroid nodules. From a surgical perspective, genomic profiling also provides prognostic and predictive information and closely relates to determination of surgical strategy. Both the genomic analysis technology and the informatics for the cancer genome data base are rapidly developing. In this paper, we have gathered existing information on the thyroid cancer-related genes involved in the initiation and progression of thyroid cancer. Our goal is to assemble a glossary for the current ThyroSeq genomic panel that can help elucidate the role genomics play in thyroid cancer oncogenesis.

摘要

下一代测序技术可实现高产量的基因组分析。在甲状腺癌领域,一种创新检测方法——ThyroSeq®被开发出来,用于通过下一代测序技术在细针穿刺和组织样本中进行靶向突变检测。ThyroSeq v.2下一代测序面板可同时对14个甲状腺癌相关基因的1000多个热点区域以及已知在甲状腺癌中出现的42种基因融合类型进行测序和检测。ThyroSeq越来越多地被用于进一步缩小甲状腺结节细胞学定义的不确定类别范围。从外科手术角度来看,基因组分析还可提供预后和预测信息,并且与手术策略的确定密切相关。基因组分析技术和癌症基因组数据库的信息学都在迅速发展。在本文中,我们收集了有关参与甲状腺癌发生和发展的甲状腺癌相关基因的现有信息。我们的目标是为当前的ThyroSeq基因组面板汇编一个术语表,以帮助阐明基因组学在甲状腺癌发生过程中所起的作用。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/b6e5/5283709/896937fb1ff4/MIRT-26-102-g1.jpg

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