Application of gene combination in preparation of products for graded detection of human tumor homologous recombination defect, tumor mutation load and microsatellite instability

Abstract

The invention relates to the field of grading detection of tumors, in particular to application of a gene combination to preparation of products for grading detection of human tumor homologous recombination defects, tumor mutation loads and microsatellite instability, and the gene combination is composed of a gene set A and a gene fragment set B, the gene combination is obtained from actual high-throughput sequencing data of a first hospital of Beijing University through specific pairing clustering analysis, the data from the real world has higher reliability and credibility, and homologous recombination defect, tumor mutation load and microsatellite instability grading and prediction can be accurately carried out on the pan cancer.

Description

technical field [0001] The invention relates to the field of tumor grading detection, in particular to the use of a gene combination to prepare a grading detection product of human tumor homologous recombination defect, tumor mutation load and microsatellite instability. Background technique [0002] Homologous recombination deficiency (HRD), Tumor Mutation Burden (TMB), and Microsatellite Instability (MSI) are important factors commonly used in clinical immunotherapy for malignant tumors and the efficacy of PARP inhibitors. index. Usually, different sequencing methods are needed to obtain complete information for the above three types of indicators. Usually, for homologous recombination defect (HRD) and microsatellite instability (MSI), it is necessary to design a special sequencing panel for targeted sequencing of genes in specific regions, and finally calculate the final HRD score and MSI score to judge HRD and MSI; usually for tumor mutational burden (TMB), whole-exome...

AI Technical Summary

Problems solved by technology

Although the traditional detection methods of homologous recombination deficiency (HRD), tumor mutation burden (TMB) and microsatellite instability (MSI) are reliable, they have the following obvious defects when detecting the above three indicators at the same time: using the whole exon Sequencing and other methods are used to detect the above indicators. Although the accuracy is high, the cost is high and will cause huge medical expenses.

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