Method and device for evaluating homologous recombination defects of single sample and storage medium

Abstract

The invention discloses a method and device for evaluating homologous recombination defects of a single sample and a storage medium. The method comprises the following steps of: acquiring SNV mutation sites of a to-be-detected tumor sample and the mutation frequency and mutation site depth of each SNV mutation site, and annotating the SNV mutation sites to obtain a system SNV mutation site set; according to the comparison result of the to-be-detected tumor sample, analyzing segments of the tumor sample with CNV mutation, and the size, including the number of probes and the BAF value, of each segment, and annotating CNV mutation sites to obtain a system CNV mutation site set; and calculating an LOH score value, a TAI score value and an LST score value by utilizing system CNV and SNV results, thereby realizing the homologous recombination defect scoring of the single sample. According to the method, homologous recombination defect evaluation can be achieved only through the to-be-detected tumor sample, and the defect that an existing homologous recombination defect evaluation method depends on a blood cell sample is overcome.

Description

technical field [0001] The present application relates to the technical field of homologous recombination defect evaluation, in particular to a method, device and storage medium for evaluating homologous recombination defect in a single sample. Background technique [0002] Research data show that the incidence of ovarian cancer among female compatriots is increasing year by year, and the mortality rate is also increasing; most ovarian cancer patients are found to be in the advanced stage, and the 5-year survival rate is less than 30%; therefore, ovarian cancer has become the most deadly malignant disease for women one of the tumors. However, with the advent of PARP inhibitors, new hope has been brought to ovarian cancer patients. After 2014, a number of PARP inhibitors have been approved for marketing, which has greatly improved the survival rate of ovarian cancer patients and improved the survival benefits. The biomarkers of ovarian cancer PARP inhibitors have been exten...

AI Technical Summary

Problems solved by technology

However, in clinical practice, it is not always possible to obtain blood cell samples corresponding to tumor samples. In this case, accurate and effective evaluation of homologous recombination deficiency cannot be performed, and HRD indicators cannot be applied clinically.

Images