Tumor mutation load detection method, device and storage medium

Abstract

The invention provides a tumor mutational load detecting method, a device and a storage medium. The method comprises the steps of acquiring mutation frequency data of a single testing sample, whereinthe mutation frequency data comprise the site mutation frequency of a sample target area, comparing the site mutation frequency with a preset threshold for obtaining a mononucleotide mutation which ishigher than the threshold, and eliminating meaningless mutation in mononucleotide mutation for obtaining the number of effective mononucleotide mutations; acquiring Indel mutation frequency data of the single testing sample, wherein the Indel mutation frequency data comprises the Indel mutation frequency of the sample target area, comparing the Indel mutation frequency with a preset threshold forobtaining the number of the Indel mutations which are higher than the threshold; calculating the number of the tumor mutational load according to a number evaluation formula of the tumor mutational load, wherein the number estimation formula comprises the weight item of the number of the effective mononucleotide mutations and the weight item of the number of the Indel mutations. The method according to the invention accurately detects the TMB index of the lung cancer sample under a precondition of no dependence to a common database and a normal pairing comparison sample.

Description

Technical field [0001] The invention relates to the technical field of tumor detection, in particular to a method, device and storage medium for detecting tumor mutation burden. Background technique [0002] Programmed Cell Death protein 1 (PD-1) is a protein usually expressed on the surface of cells, which regulates the immune system by reducing the inflammatory response of immune cells to cells and prevents the occurrence of autoimmunity. PD-1's ligand PD-L1 can specifically neutralize PD-1, thereby restarting the immune system's killing effect on cells. This phenomenon is also called immune checkpoint suppression. Drugs developed through immune checkpoint suppression mechanisms (such as CTLA-4 and PD-L1) have been found to have encouraging therapeutic effects in cancer treatment in recent years. [0003] Canceration of cells is usually the result of long-term accumulation of genetic mutations in somatic cells, but not all somatic mutations can cause cell canceration. The curr...

AI Technical Summary

Problems solved by technology

First of all, TMB differences between different cancer types are large, and the same database filtering method cannot guarantee the accurate removal of germline gene mutations in all cancer types; secondly, this method is highly dependent on the quality and diversity of public databases. Unable to make precise descriptions of the mutant backgrounds of races not in the database

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