DNA Methylation Markers for Early Cancer Detection
Find Innovative SolutionsGenerate Solutions
Solution Overview
Problem
Current diagnostic methods for colorectal and breast cancers are invasive, expensive, and not sensitive enough to detect early-stage cancers, necessitating the development of simpler and more informative screening protocols.
Innovation Solution
Assessing the methylation status of specific DNA regions, such as Hg19 coordinates Chr6: 163834097-163834982, Chr6: 163834295-163834500, and Chr6: 163834621-163834906, in biological samples to identify neoplastic cells or cells predisposed to neoplastic states through methods involving bisulfite treatment and PCR amplification.
Engineering Contradictions & Design Principles
Engineering Contradiction Analysis
1Measurement precision
If current diagnostic methods are used for colorectal and breast cancers, then diagnosis can be performed, but the methods are invasive, expensive, and not sensitive enough to detect early-stage cancers
Solution Approach 1:
The invention extracts and analyzes specific DNA methylation markers (such as RASSF1A, GSTP1, and other gene promoters) from biological samples to detect early-stage cancers. By focusing on these specific molecular markers rather than using invasive imaging or biopsy methods, the test achieves high sensitivity for early detection while minimizing patient burden and procedural complexity
Solution Approach 2:
The invention uses DNA methylation status as an intermediary marker to indirectly detect the presence of early-stage cancers. Instead of directly observing tumors through invasive procedures, the test measures methylation patterns in DNA extracted from blood or other accessible samples, serving as a non-invasive proxy for cancer detection
2Measurement precision
If current diagnostic methods are used for colorectal and breast cancers, then diagnosis can be performed, but the cost is high
Solution Approach 1:
The invention employs a disposable, single-use DNA extraction and analysis protocol that processes samples through a series of straightforward steps (DNA extraction, bisulfite treatment, PCR amplification, and methylation-specific PCR). This approach eliminates the need for expensive, reusable equipment while maintaining high detection accuracy, making the test cost-effective for widespread screening
3Ease of operation
If DNA methylation assessment is performed to detect early-stage cancers, then sensitivity and simplicity are improved, but the method requires specific technical procedures
Solution Approach 1:
The invention segments the complex DNA methylation analysis into distinct, manageable steps: DNA extraction, bisulfite treatment to convert unmethylated cytosines to uracils, PCR amplification of target regions, and methylation-specific PCR using primers designed to distinguish methylated from unmethylated sequences. Each step is optimized and can be performed with standard laboratory equipment, making the overall process simpler and more accessible
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
This approach enables the detection of neoplastic changes in colorectal and breast cells, facilitating early diagnosis and screening for cancer predisposition with higher sensitivity and simplicity compared to existing methods.
Implementation Method 1
treating the nucleic acid with an amount of a compound that selectively mutates a non-methylated cytosine residue under conditions sufficient to induce mutagenesis
Implementation Method 2
amplifying the nucleic acid under conditions sufficient for selective amplification of the non-mutated nucleic acid
Data Source
AI summary
The present invention relates generally to nucleic acid molecules in respect of which changes to DNA methylation levels are indicative of the onset or predisposition to the onset of a neoplasm. More particularly, the present invention is directed to nucleic acid molecules in respect of which changes to DNA methylation levels are indicative of the onset and/or progression of a large intestine or breast neoplasm, such as an adenoma or adenocarcinoma. The DNA methylation status of the present invention is useful in a range of applications including, but not limited to, those relating to the diagnosis and/or monitoring of colorectal or breast neoplasms, such as colorectal or breast adenocarcinomas. Accordingly, in a related aspect the present invention is directed to a method of screening for the onset, predisposition to the onset and/or progression of a neoplasm by screening for modulation in DNA methylation of one or more nucleic acid molecules. The nucleic acid molecules used for diagnostics in the present invention are sequences from LOC 100526820, subsequently named CAHM (colorectal adenocarcinoma hypermethylated).