Homologous recombination defect detection method

Abstract

According to the homologous recombination defect detection method provided by the invention, the detection of accompanying diagnosis of multiple drugs can be simultaneously met, the requirement on the initial quantity of a sample is low, the cost is low, and the detection period is short; the homologous recombination defect detection method comprises the following steps: S1, carrying out total DNA extraction, DNA fragmentation and DNA amplification on a human tissue sample; s2, detecting a part of amplified tissue sample DNA by adopting an SNP chip, and calculating an HRD value; next-generation sequencing is carried out on the other part of amplified tissue sample DNA, and the gene mutation state in an HRD signal channel and accompanying diagnosis of other targeted drugs are evaluated; and S3, integrating an SNP chip detection result and a next-generation sequencing result, and judging which tumor treatment medicine the sample can benefit from.

Description

technical field [0001] The present invention relates to the field of biotechnology, and more particularly, to a method for detecting homologous recombination deficiency. Background technique [0002] For the detection of HRD (homologous recombination deficiency, homologous recombination deficiency), the total amount of tissue samples from tumor patients is very limited. Depending on the diameter of the puncture needle, the tumor tissue obtained by one-time puncture ranges from tens of thousands of cells to millions of cells. With the development of precision medicine, the detection methodologies that need to be done downstream have also expanded from one to many: for example NGS, RNAseq, microarrays, next-generation sequencing, ddPCR, nanostring, and more. However, the total number of clinical samples is too small, so clinicians often have to make difficult choices between different methodologies (corresponding to different medication guidance), so that patients are forced ...

AI Technical Summary

Problems solved by technology

However, the current domestic HRD status assessment products all use the next-generation sequencing method. 1. This method requires a relatively high initial sample volume (above 250ng); 2. This method generally selects approximately There are 70,000 SNPs, the captured interval is about 2M, and the amount of sequencing data is large. The cost of detection reagents for a sample is more than 1,000 for the capture of SNP sites and sequencing, plus the operating cost of the detection methodology. The clinical fee is about 10,000 yuan, and the high cost problem is the pain point of widespread clinical application, which greatly reduces the number of people who benefit from this test, and cannot become an effective screening method for companion diagnosis; 3. Can not meet the requirements at the same time The detection of other drugs can not meet the demands of doctors and patients clinically; 4. The detection cycle of NGS generally takes 6-7 days, which also makes patients need a long waiting time

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