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MET D1228N 和 D1246N 是 MET 外显子 14 跳跃中的相同耐药突变。

MET D1228N and D1246N are the Same Resistance Mutation in MET Exon 14 Skipping.

机构信息

Department of Pathology, Brigham and Women's Hospital/Harvard Medical School, Boston, Massachusetts, USA.

Cancer Center, Massachusetts General Hospital/Harvard Medical School, Boston, Massachusetts, USA.

出版信息

Oncologist. 2021 Dec;26(12):e2297-e2301. doi: 10.1002/onco.13924. Epub 2021 Aug 17.

DOI:10.1002/onco.13924
PMID:34347347
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC8649016/
Abstract

Comprehensive genetic profiling using next-generation sequencing technologies has become an integral part of precision oncology. Variant annotation requires translating the DNA findings into protein level predictions. In this article we highlight inconsistencies in variant annotation for the MET D1228N exon 19 resistance mutations. MET D1228N and D1246N represent the same resistance mutation in MET exon 14 skipping alterations annotated on different transcripts. Additional examples of relevant variants annotated on different transcripts emphasize the importance of avoiding erroneous interpretation when realizing precision oncology.

摘要

使用下一代测序技术进行全面的基因谱分析已经成为精准肿瘤学的一个组成部分。变异注释需要将 DNA 发现转化为蛋白质水平的预测。本文重点介绍了 MET D1228N 外显子 19 耐药突变的变异注释中的不一致之处。MET D1228N 和 D1246N 代表 MET 外显子 14 跳跃改变中不同转录本上注释的相同耐药突变。在不同转录本上注释的其他相关变异的例子强调了在实现精准肿瘤学时避免错误解释的重要性。

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2
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JCO Precis Oncol. 2020 Mar 24;4. doi: 10.1200/PO.19.00118. eCollection 2020.
3
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