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Gene panel for detecting tumor targeted drug related gene mutation, method, application and kit

A tumor-targeting and gene-based technology, applied in the fields of biotechnology, DNA mutation detection technology and bioinformatics, can solve problems that are not suitable for targeted therapy

Pending Publication Date: 2020-03-24
深圳市新合生物医疗科技有限公司
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  • Abstract
  • Description
  • Claims
  • Application Information

AI Technical Summary

Problems solved by technology

Use of targeted therapy may be limited to patients whose tumors have specific genetic mutations; patients without mutations are not candidates for targeted therapy

Method used

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  • Gene panel for detecting tumor targeted drug related gene mutation, method, application and kit
  • Gene panel for detecting tumor targeted drug related gene mutation, method, application and kit
  • Gene panel for detecting tumor targeted drug related gene mutation, method, application and kit

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Experimental program
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Effect test

Embodiment

[0036] 1. NGS library preparation

[0037] (1) Use 10ng of standard substance to refer to cfDNA ( ctDNA Reference Material, AF 1%, AF0.5%, Cat. No. 0710-0204, 0710-0205), and use NEBNext Ultra II DNA library Prep Kit (NEB, product code E7645S) for NGS library preparation;

[0038] (2) Use Qubit 3.0 Fluorometer and Tapestation4200 system to check the quantity and quality of NGS library.

[0039] 2. Use the gene panel to capture the target DNA

[0040] (1) Use 100-500ng of library for target capture;

[0041] (2) Hybridize with the probe of the gene panel at 65°C for 4-16 hours;

[0042] The targeted DNA probe and the fusion DNA probe are commercial probes purchased from Integrated DNA Technologies, Inc. (IDT) in the United States;

[0043] The targeted DNA probes are all probe combinations covering all exon regions of the corresponding genes, and the gene panel contains 15,027 targeted DNA probes for capturing targeted DNA, including Exon regions of the following 357 gene...

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Abstract

The invention discloses a gene panel for detecting tumor targeted drug related gene mutation, an application, a method and a kit. The gene panel provided by the invention comprises 15, 027 targeting DNA probes used for capturing targeting DNA. The targeting DNA comprises 357 gene exon regions on a human genome and 511 probes used for capturing gene fusion. The gene panel disclosed by the inventioncan be used for detecting DNA mutation and variation of a plurality of sites at one time, therefore, the optimal individualized treatment medicine and scheme can be selected according to the genome characteristics of a patient in the cancer immunotherapy process. The gene panel can be used for measuring various types of biomarkers such as SNV, Indel, CNV, gene fusion, MSI, TMB and HLA.

Description

technical field [0001] The invention relates to the fields of biotechnology, DNA mutation detection technology and bioinformatics, in particular to a gene panel for detecting tumor mutation load and specific gene mutation. Specifically, the present invention relates to a probe combination that can cover all exon regions of 357 genes and 511 gene fusion events, and is used to detect tumor mutation burden, measure genome microsatellite instability (MSI) and analyze cancer samples. Multiple types of mutations in the genome are detected. The present invention quantifies the tumor mutation load based on DNA mutation detection to predict the response of individual patients to specific anti-cancer immunotherapy, and also provides optimal anti-cancer drugs and treatment plans for cancer patients based on genomic mutations. Background technique [0002] Cancer is one of the main causes of human death. Traditional cancer treatments mainly include surgery, radiotherapy, and chemothera...

Claims

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Application Information

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IPC IPC(8): C12Q1/6886C12N15/11
CPCC12Q1/6886C12Q2600/156C12Q2600/106
Inventor 余涛金泰庆王志强万季宋麒
Owner 深圳市新合生物医疗科技有限公司
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