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Kit for detecting or assisting in detecting tumor-related gene variation and application thereof

A tumor-related gene and auxiliary detection technology, applied in the field of biomedicine, can solve the problems of low detection sensitivity, missed detection of low-frequency mutations, limited application scope, etc., and achieve the effect of strong exploration ability, high sensitivity and low detection limit.

Inactive Publication Date: 2022-05-24
普瑞基准科技(北京)有限公司 +2
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  • Summary
  • Abstract
  • Description
  • Claims
  • Application Information

AI Technical Summary

Problems solved by technology

For example, Sanger sequencing is the gold standard for sequencing, but because the sequencing technology can only obtain one sequence per reaction, the sequencing throughput is low; although the price of a single reaction is low, the cost of obtaining a large number of sequencing is high; and the detection sensitivity is low, Generally, only mutations with a mutation abundance above 20% can be detected, so some low-frequency mutations may be missed.
However, RT-PCR can only detect known sites and cannot discover unknown sites, which is not conducive to the exploration of new targets.
IHC is mainly used to detect protein expression, but cannot detect gene point mutations (SNV), small fragment insertion deletions (Indel), etc., and the detection of medication that needs to be guided by gene SNV / Indel cannot be achieved by IHC
Similarly, although FISH detection is the gold standard for identifying gene fusion (Fusion) and amplification (CNV), it is also not applicable to the detection of SNV / Indel, and there are limitations in its application

Method used

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  • Kit for detecting or assisting in detecting tumor-related gene variation and application thereof
  • Kit for detecting or assisting in detecting tumor-related gene variation and application thereof
  • Kit for detecting or assisting in detecting tumor-related gene variation and application thereof

Examples

Experimental program
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Effect test

Embodiment

[0037] 1. Kits for the detection of tumor-related gene mutations

[0038] The kit for detecting tumor-related gene variation includes 320 DNA probes shown in SEQ ID NO: 1-SEQ ID NO: 320.

[0039] The acquisition process of the probe is as follows:

[0040] In order to realize the precise treatment of renal cancer, gastric cancer, and intestinal cancer, the present invention adopts the next-generation sequencing technology to capture the target region. After analysis and selection, all 80 (see Table 1) genes related to individualized medicine and genetic risk of tumors are obtained. Exon regions, hotspot regions of some genes, and chemotherapeutic drug-related SNP sites. To detect gene point mutation (SNV), small insertion deletion (Indel), copy number variation (CNV), gene fusion (Fusion) and microsatellite instability (MSI) with clear clinical significance in renal cancer, gastric cancer and intestinal cancer ) and other biomarkers to further guide the precise treatment of ...

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PUM

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Abstract

The invention relates to a kit for detection or auxiliary detection of tumor-related gene variation and application thereof, the kit comprises a set of DNA probes, and the set of DNA probes comprises DNA probes as shown in SEQ ID NO: 1-SEQ ID NO: 320. The invention relates to a kit (Panel product) capable of detecting 80 genes, which can be used for detecting a solid tumor targeted drug or a biomarker corresponding to an immune checkpoint inhibitor approved by the American Food and Drug Administration (FDA) / State Drug Administration (NMPA) at present at one time. A tumor tissue sample and a whole blood sample of a subject are collected, and tumor content evaluation, DNA extraction, library establishment, capture, sequencing, bioinformatics analysis and medical interpretation are carried out, so that a biomarker for guiding precise treatment is found.

Description

technical field [0001] The invention relates to the field of biomedicine, in particular to a kit for detecting or assisting the detection of tumor-related gene variation and its application. Background technique [0002] According to statistics from the National Cancer Center, in 2015, the number of new cancer cases in my country was 1.8639 / 100,000, and the mortality rate was 105.84 / 100,000, which seriously threatens human health. Clinical studies classify tumors as a genetic disease, mainly caused by the activation of proto-oncogenes or the inactivation of inhibitory genes. With the great progress of high-throughput sequencing (NGS) and biotechnology, many driver genes related to the occurrence and development of cancer and biomarkers that can be used to guide tumor treatment have been discovered, and many driver genes and biomarkers have been developed. This type of drug can be used for precise treatment based on detected driver gene mutations or biomarkers in clinical tr...

Claims

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Application Information

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Patent Type & Authority Applications(China)
IPC IPC(8): C12Q1/6886C12N15/11
CPCC12Q1/6886C12Q2600/156C12Q2600/118
Inventor 季序我邓晨旭韦宝耶董宇
Owner 普瑞基准科技(北京)有限公司
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