Tumor mutation load detection method, device and storage medium

A mutation load and tumor technology, applied in the field of tumor detection, can solve the problems of large differences, the inability to make an accurate description of the mutation background, and the inability to ensure the precise removal of germline gene mutations, etc., to reduce manpower consumption, reduce dependence, and reduce Calculate the effect of resource consumption
CN109949861BActive Publication Date: 2020-02-21裕策医疗器械江苏有限公司
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Patent Information

Authority / Receiving Office
CN · China
Patent Type
Patents(China)
Current Assignee / Owner
裕策医疗器械江苏有限公司
Publication Date
2020-02-21

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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.
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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...

Claims

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