Marker, detection method and detection system for homologous recombination deletion

Abstract

The invention relates to a marker, a detection method and a detection system for homologous recombination deletion, and belongs to the technical field of medical molecular biology. According to the invention, the high-heterozygosity-rate SNP locus suitable for Chinese species is screened out by screening the gomAD heterozygosity rate and the real Chinese population locus heterozygosity rate, and an HRD scoring method is constructed on the basis of the high-heterozygosity-rate SNP locus. The marker for homologous recombination deletion provided by the invention can effectively score HRD, and the consistency of the calculation result and the WGS sequencing result is good.

Description

technical field [0001] The invention relates to a marker, a detection method and a detection system for homologous recombination deletion, and belongs to the technical field of medical molecular biology. Background technique [0002] DNA Homologous Recombination Repair (HRR) is an important way to repair DNA double-strand damage. The homologous recombination repair pathway is extremely precise and critical to maintaining genome stability and integrity. About 50% of ovarian cancer patients have homologous recombination repair deficiency (HRD). [0003] Currently, three PARP inhibitors (niraparib, olaparib, and rucaparib) have been approved for maintenance treatment of platinum-sensitive recurrent ovarian cancer. Wild-type patients with altered homologous recombination repair pathways and molecular features of BRCA-mutant tumors (the so-called "BRCAness" phenotype) may also benefit from treatment with PARP inhibitors. A major clinical challenge is how to accurately identify ...

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Problems solved by technology

[0016] However, in the above-mentioned detection methods, the evaluation of HRD score generally needs to evaluate the data copy number of the whole genome, and requires the information of a large number of SNPs evenly distributed on the genome

Commercial high-density SNP microsequencing technologies, such as Myriad, specially design a large number of heterozygous SNP sites on the genome to detect the status of specific regions of chromosomes, but their low sequencing depth cannot meet the detection of low-abundance somatic mutations; customized Large multi-gene panels, such as FoundationMedicine, have sufficient sequencing depth to detect somatic mutations, but the number of heterozygous SNPs is small, which can meet the detection of loss of heterozygosity in specific regions, but it is not enough to evaluate the chromosome status of the whole gene

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