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

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...

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

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