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Gene panel used for detecting breast cancer gene mutation, detection method used for detecting breast cancer gene mutation and application of gene panel

A breast cancer, gene technology, applied in biochemical equipment and methods, microbial determination/inspection, DNA/RNA fragments, etc., can solve the problems of complex process, rarely heard of reports, and inaccurate detection.

Inactive Publication Date: 2020-09-11
北斗生命科学(广州)有限公司 +1
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  • Summary
  • Abstract
  • Description
  • Claims
  • Application Information

AI Technical Summary

Problems solved by technology

[0004] Breast cancer is a common, high-risk cancer with a wide range of patients. Breast cancer gene detection is of great significance for tumor prevention and treatment. At present, the detection of breast cancer-related gene mutations is mostly unilateral. Mutations, but reports of comprehensive testing are rare
At present, some drugs, such as targeted drugs, can specifically target certain tumor gene mutations to achieve precise killing effects. Different tumor patients have different tumor driver gene mutations, which will lead to different or even diametrically opposite therapeutic effects for different patients on the same drug. Therefore, unilateral detection and small panel detection often have the defect of incomplete information or inaccurate detection. It is impossible to clearly and comprehensively understand which gene mutation has occurred in the patient and which drug is suitable for it, and precision medicine cannot be realized.
[0005] Secondly, the existing bioinformatics analysis process is complex and has many parameters, which requires experienced professional bioinformatics analysts to complete. Therefore, a large gene panel and its detection method that can comprehensively and quickly detect breast cancer and its tumor types are The urgent need for breast cancer precision medicine

Method used

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  • Gene panel used for detecting breast cancer gene mutation, detection method used for detecting breast cancer gene mutation and application of gene panel
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  • Gene panel used for detecting breast cancer gene mutation, detection method used for detecting breast cancer gene mutation and application of gene panel

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Experimental program
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Effect test

Embodiment 1

[0149] The standard products HD830, HD831, COA-GW-OGTM003, COA-GW-OGTM800, and COA-GW-OPSM002 were tested according to the above detection method, and the test results are shown in the following table (Table 4-5):

[0150] Table 4 Gene mutations in standard products HD830, HD831, COA-GW-OGTM003, COA-GW-OGTM800, COA-GW-OPSM002

[0151]

[0152]

[0153] Table 5 MSI detection results of HD830 and HD831

[0154] Standard expectations detection value Test results HD830 MSI-high MSI-high 41.99 HD831 MSS MSS 1.19

Embodiment 2

[0156] According to the above detection method, the clinically obtained breast cancer tissue samples were detected, and the detection results were shown in the following table (Table 6):

[0157] Table 3 Gene mutations in breast cancer tissue samples

[0158]

[0159] It can be seen from Table 4-6 that using the panel of the present invention to construct targeted capture libraries for standard reference DNA and clinical breast cancer samples, the sequencing results show that all kinds of mutation types contained in the reference products have been detected, and the mutation frequency and It is expected to be basically the same, and mutations below 0.02 (detection limit) can be detected at a minimum, with an accuracy of 100%; and it also has the effect of high accuracy and low detection limit for clinical samples. Therefore, the present invention can meet the requirements for breast cancer tissue samples and Testing requirements for normal whole blood.

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Abstract

The invention relates to a gene panel used for detecting breast cancer gene mutation, and a detection method and application of the gene panel. The panel disclosed by the invention comprises 54419 pieces of targeted DNA (deoxyribonucleic acid) probes. The targeted DNA comprises the exon regions of 445 pieces of genes on the human genomes, 2573 pieces of MSI (microsatellite instability) sites and 566 position intervals used for detecting gene fusion. The detection method in the invention can be used for detecting SNV (single nucleotide variation), Indel (Insertion and Deletion), CNV (Copy Number Variation), Fusion, MSI, TMB (Tumor Mutational Burden), HLA (human leucocyte antigen) parting and the like of a tumor somatic cell multi-site DNA mutation. An optimal individual treatment medicine and scheme can be conveniently selected according to the genome features of patients in a breast cancer immunotherapy process.

Description

technical field [0001] The invention relates to the field of gene detection, in particular to a gene panel for detecting breast cancer gene mutation, a detection method and application thereof. Background technique [0002] Breast cancer is a systemic disease, and its occurrence and development is a complex process involving multiple factors and links, including the activation of oncogenes and the inactivation of tumor suppressor genes. Therefore, gene mutation plays a very important role in the occurrence and development of breast cancer. [0003] Breast cancer is a multifactorial genetic variation disease, less than 10% is caused by a single gene defect. With the rapid development of next-generation sequencing (NGS), more and more breast cancer-related genes have been discovered, and potential genetic variations (single nucleotide polymorphisms and copy number variations) on these genes will cause breast cancer drug treatment effects difference. [0004] Breast cancer i...

Claims

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Application Information

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Patent Type & Authority Applications(China)
IPC IPC(8): C12Q1/6858C12Q1/6886C12N15/11G16B30/10
CPCC12Q1/6858C12Q1/6886C12Q2600/156G16B30/10C12Q2535/122C12Q2537/165
Inventor 钱志荣石建涛李文斌叶辉
Owner 北斗生命科学(广州)有限公司
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