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日本癌症基因组医学中“临床测序”的实施情况。

Implementation of "clinical sequencing" in cancer genome medicine in Japan.

作者信息

Kohno Takashi

机构信息

Division of Genome Biology, National Cancer Center Research Institute, Tokyo, Japan.

Division of Translational Genomics, Exploratory Oncology Research and Clinical Trial Center, National Cancer Center, Tokyo, Japan.

出版信息

Cancer Sci. 2018 Mar;109(3):507-512. doi: 10.1111/cas.13486. Epub 2018 Feb 2.

DOI:10.1111/cas.13486
PMID:29285848
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC5834803/
Abstract

In oncology, actionable mutations (alterations) in cancer-associated genes are critical in terms of the selection of therapeutic approaches. Next-generation sequencing of tumor sample DNA (ie, clinical sequencing) can guide clinical management by providing diagnostic or prognostic data, and facilitating the identification of potential treatment regimens, such as molecular-targeted and immune checkpoint blockade therapies. In the USA, a variety of tumor-profiling multiplex gene panels have been developed and implemented for this purpose. In Japan, several academic institutions have now carried out detailed investigations of the feasibility and value of clinical sequencing, and cancer societies have issued consensus clinical practice guidance for next-generation sequencing-based gene panel tests. These efforts will facilitate the implementation of cancer genome medicine in Japan.

摘要

在肿瘤学领域,癌症相关基因中的可操作突变(改变)对于治疗方法的选择至关重要。肿瘤样本DNA的二代测序(即临床测序)可通过提供诊断或预后数据,并有助于确定潜在的治疗方案,如分子靶向治疗和免疫检查点阻断治疗,来指导临床管理。在美国,已经为此开发并实施了多种肿瘤分析多重基因检测板。在日本,几家学术机构现已对临床测序的可行性和价值进行了详细研究,并且癌症协会已发布基于二代测序的基因检测板检测的共识临床实践指南。这些努力将促进癌症基因组医学在日本的实施。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/8e3d/5834803/4267ee5f38e9/CAS-109-507-g002.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/8e3d/5834803/6783827fb2be/CAS-109-507-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/8e3d/5834803/4267ee5f38e9/CAS-109-507-g002.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/8e3d/5834803/6783827fb2be/CAS-109-507-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/8e3d/5834803/4267ee5f38e9/CAS-109-507-g002.jpg

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