US 2026/0038631 A1 · METHOD AND SYSTEM FOR EVALUATING TUMOR FORMATION RISK AND TUMOR TISSUE SOURCE

Abstract

Provided are a tumor risk evaluation method and system. Specifically provided are a method and/or system for evaluating the correlation between a sample under test and a tumor formation risk and/or tumor tissue source. Methylation variation regions of various different cancers and specific methylation characteristic regions of various organs are captured by using DNA or RNA oligonucleotide sequences, the existence of tumor components (ctDNA) in blood cell-free DNA (cfDNA) is determined, and the correlation between the sample and the tumor tissue source is evaluated. Provided is a low-cost and high-accuracy method, which is conducive to accurately predicting and evaluating the risk of various cancers.

Claims28

Dependent claims

A method for evaluating correlation between a sample to be tested and risk of tumor formation and/or tumor tissue of origin, characterized by comprising:

(1) a differentially methylated region DMR classification step:
determining a plurality of target DMRs for evaluation, based on sequencing coverage depth of a methylated site and/or methylation level difference of adjacent methylated sites;
(2) a tumor formation risk evaluation step:
evaluating the correlation between the sample to be tested and the risk of tumor formation, based on methylation levels of the target DMRs of the sample to be tested, wherein optionally comprising a step of reducing influence of age factor of a subject on evaluation result, wherein the sample to be tested is derived from the subject;
(3) optionally comprising a tumor tissue of origin evaluation step:
evaluating the correlation between the sample to be tested and the tumor tissue of origin, based on methylation levels of the target DMRs of the sample to be tested.

3 more elements

A system for evaluating correlation between a sample to be tested and risk of tumor formation and/or tumor tissue of origin, characterized by comprising:

(1) a differentially methylated region DMR classification module:
used for determining a plurality of target DMRs for evaluation, based on sequencing coverage depth of a methylated site and/or methylation level difference of adjacent methylated sites;
(2) a tumor formation risk evaluation module:
used for evaluating the correlation between the sample to be tested and the risk of tumor formation, based on methylation levels of the target DMRs of the sample to be tested, wherein optionally comprising a module used for reducing influence of age factor of a subject on evaluation result, wherein the sample to be tested is derived from the subject;
(3) optionally comprising a tumor tissue of origin evaluation module:
used for evaluating the correlation between the sample to be tested and the tumor tissue of origin, based on methylation levels of the target DMRs of the sample to be tested.

3 more elements

Dependencies are inferred from the claim text.

Method and system for evaluating tumor formation risk and tumor tissue source

Life of this patent

Method and system for evaluating tumor formation risk and tumor tissue source

Life of this patent

Abstract

Claims28