ADHFE1 Methylation Region for Noninvasive Colorectal Cancer Detection

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Solution Overview

Problem

Current colorectal cancer screening methods, such as colonoscopy, fecal occult blood test, and tumor markers, are invasive, non-specific, or have low sensitivity, necessitating the development of a more accurate and non-invasive early screening method.

Innovation Solution

Utilization of the differentially methylated region (DMR) of the ADHFE1 gene, specifically chr8:67344198-67345563, for detecting colorectal cancer or precancerous lesions, combined with a kit containing primers and probes for methylation analysis, particularly using fluorescence quantitative PCR.

Engineering Contradictions & Design Principles

VSEngineering Contradiction Analysis

1Measurement precision

If colonoscopy is used for colorectal cancer screening, then diagnostic accuracy is improved, but patient compliance deteriorates due to invasive procedure and complicated preparation

Engineering Contradiction:
Improvediagnostic accuracyVSAvoidpatient compliance
Core Design Contradiction:
Measurement precisionVSEase of operation

Solution Approach 1:

The patent replaces the mechanical invasive colonoscopy procedure with a molecular detection method analyzing DNA methylation patterns in fecal samples. This substitution maintains diagnostic accuracy by detecting epigenetic changes associated with colorectal cancer while eliminating the need for invasive procedures and complicated bowel preparation, thereby significantly improving patient compliance

Inventive Principle:
Principle #28Mechanics substitution (Replace mechanical system)

2Ease of operation

If fecal occult blood test is used for colorectal cancer screening, then patient compliance is improved, but diagnostic accuracy deteriorates due to low sensitivity and false positives

Engineering Contradiction:
Improvepatient complianceVSAvoiddiagnostic accuracy
Core Design Contradiction:
Ease of operationVSMeasurement precision

Solution Approach 1:

The patent changes the detection parameter from blood components (hemoglobin) to epigenetic markers (DNA methylation patterns at specific genomic loci). This parameter change maintains the non-invasive nature of fecal testing, ensuring high patient compliance, while dramatically improving diagnostic accuracy by detecting methylation changes that occur early in carcinogenesis, reducing false positives and increasing sensitivity

Inventive Principle:
Principle #35Parameter changes

3Difficulty of detecting and measuring

If broad-spectrum tumor markers like CEA are used for colorectal cancer screening, then ease of detection is improved, but diagnostic accuracy deteriorates due to low specificity and false positives

Engineering Contradiction:
Improveease of detectionVSAvoidspecificity
Core Design Contradiction:
Difficulty of detecting and measuringVSMeasurement precision

Solution Approach 1:

The patent segments the detection target from broad-spectrum tumor markers to specific differentially methylated regions at defined genomic loci. This segmentation approach maintains ease of detection through standardized protocols while dramatically improving specificity by targeting epigenetic changes unique to colorectal cancer development, thereby reducing false positives associated with broad-spectrum markers

Inventive Principle:
Principle #1Segmentation

Data Source

PatentEP4582560A1Differentially methylated region of adhfe1 gene, kit, and use thereof
Publication Date: 2025.07.09 BGI GENOMICS CO LTD
  • EP4582560A1 patent drawingFigure 1
  • EP4582560A1 patent drawingFigure 2
  • EP4582560A1 patent drawing

AI summary

The present invention belongs to the field of bio-pharmaceuticals. Disclosed are a differentially methylated region of an ADHFE1 gene, a detection primer, a probe, a kit, and use of the differentially methylated region in the detection of colorectal cancer or precancerous lesions of colorectal cancer and in the evaluation of prognostic risks of colorectal cancer patients. The differentially methylated region is chr8:67344198-67345563. The differentially methylated region of the present invention can be used for effectively detecting colorectal cancer or precancerous lesions of colorectal cancer, or for evaluating prognostic risks of colorectal cancer patients.