Methylated DNA Marker Panel for Early Colorectal Neoplasm Detection
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Solution Overview
Problem
Current methods for detecting colorectal cancer, such as colonoscopy, are invasive and have limitations, necessitating a need for non-invasive, highly sensitive, and specific methods for early detection of pre-malignant and malignant neoplastic alterations in the colon.
Innovation Solution
A method involving the determination of methylation states of the Septin 9, Ikaros family zinc-finger 1 (IKZF1), and branched-chain aminotransferase 1 (BCAT1) genes in biological samples, using various DNA analysis techniques, to identify colorectal neoplasms or predisposition, including amplification and detection methods like PCR and methylation-specific PCR.
Engineering Contradictions & Design Principles
Engineering Contradiction Analysis
1Measurement precision
If colonoscopy is used for colorectal cancer detection, then detection sensitivity and specificity are improved, but invasiveness and patient discomfort increase
Solution Approach 1:
The patent introduces methylated DNA markers (Septin 9, IKZF1, BCAT1) as intermediary substances that mediate between the tumor tissue and the detection system. These markers are released into bodily fluids and stool, serving as indirect indicators of colorectal neoplasms, thereby enabling non-invasive detection while maintaining high sensitivity and specificity.
Solution Approach 2:
The patent replaces the mechanical invasive procedure of colonoscopy with a biochemical detection system. Instead of physically examining the colon lining, the method uses molecular biology techniques (PCR, methylation-specific amplification) to detect disease markers in blood, plasma, or stool samples, substituting mechanical intervention with chemical/biological detection.
2Measurement precision
If single marker detection is used, then test simplicity is maintained, but detection sensitivity decreases
Solution Approach 1:
The patent combines multiple independent detection targets (Septin 9, IKZF1, and BCAT1 genes) into a single comprehensive test panel. By detecting methylation status of multiple markers simultaneously in the same biological sample, the method achieves enhanced detection sensitivity while maintaining operational simplicity, as all markers are assessed in one test rather than requiring separate procedures.
Solution Approach 2:
The patent creates a universal detection platform that can identify multiple different methylated DNA markers using a single methodology framework. The same basic procedure (methylation analysis via PCR or similar techniques) is applied to detect different gene markers, allowing the system to perform multiple detection functions through one standardized process.
Applied Scientific Principles
This section explains which scientific principles are used to turn an abstract innovation direction into a practical engineering solution.
Function Achieved in This Case
Enhances the sensitivity and specificity of colorectal cancer detection by capturing additional cases, particularly at earlier stages, through the combined use of Septin 9, IKZF1, and BCAT1 markers, improving the accuracy of early detection and monitoring.
Implementation Method 1
determining the methylation state of the Septin 9 gene and the methylation state of one additional marker gene within the biological sample, wherein the one additional marker gene is selected from the Ikaros family zinc-finger 1 (IKZF1) gene and the branched-chain aminotransferase 1 (BCAT1) gene
Implementation Method 2
amplification, PCR method, isothermal amplification, NASBA method, LCR method, methylation specific amplification, Methylation Specific PCR (MSP), nested MSP, Heavy-MethylTM, bisulfite sequencing
Data Source
AI summary
Disclosed herein is a combination of genomic sequences whose methylation patterns have utility for the improved detection and differentiation between colorectal neoplasms. Further disclosed herein are methods, nucleic acids and kits for detecting or differentiating between colorectal neoplasms.