Method for detecting mutation and HRD scoring of tumor patient to guide medication

Abstract

The invention relates to a method for for detecting mutation and HRD scoring of tumor patient to guide medication, which comprises the following steps: detecting a tumor tissue sample and a control leukocyte sample thereof on the basis of taking a BAM file as an input file, and detecting mutation information of an HRR pathway in panels of different sample types and large-fragment chromosome abnormality HRD caused by gene recombination repair defects, the method for detecting the tumor tissue sample comprises the following steps: 1) detecting mononucleotide mutation of an HRR pathway; 2) detecting the loss of heterozygosity (LOH), telomere allele imbalance (TAI) and large fragment state transition (LST) of the HRR region, wherein the HRD score is equal to the weighted sum of LOH, TAI and LST scores; the invention provides a mutation and HRD scoring medication guidance method for tumor patients. According to the method, a traditional method that the HRD value score is calculated through whole genome detection and is not beneficial to clinical actual effect is optimized, the calculation speed is increased, the detection effect is good, the detection result is accurate, and the requirements of actual application can be well met.

Description

technical field [0001] The invention relates to the technical field of gene detection, in particular to a method for detecting mutations in tumor patients and guiding medication by HRD scores. Background technique [0002] With the maturity of next-generation sequencing technology and the decline of economic costs, genome sequencing has been widely used in the medical field. Taking tumor drug use and clinical trials as an example, researchers can take cancer tissue or plasma samples to study the effectiveness of drugs for cancer types with different biomarkers, the process mechanism of cancer metastasis and the markers produced, screening Check the markers of early tumor or recurrence. [0003] Genes have multiple mutation types, a single point mutation is a single nucleotide mutation (SNV), which can be divided into germline mutation and somatic mutation according to the time of mutation occurrence. Germline mutation is also called germ cell mutation, which is a mutation ...

AI Technical Summary

Problems solved by technology

Therefore, it is difficult to use the HRD score in WGS as a reference and directly apply it to the HRD score of the Panel, so it is also impossible to apply the medication guidance or efficacy evaluation corresponding to the HRD score (>42) in WGS to the panel detection After calculating the HRD results in