FAP Diagnosis via Protein Expression Profiles
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Solution Overview
Problem
Current diagnostic methods for familial adenomatous polyposis (FAP) are inadequate, as genetic tests often provide unclear results, and clinical symptoms may only develop later, leading to delayed detection and treatment.
Innovation Solution
A method involving the determination of specific protein expression profiles using a panel of biomarkers (RNF115, HSPA8, HSPD1, ASTN2, KRT9, KRT10, UQCRC1, CCT5, NDUFS1, ACTB, LMNA, ACY1, RUVBL1, CSTF2T, ECH1, ALDH2, and KRT18) in intestinal mucosa tissue samples, compared to healthy individuals and those with sporadic colorectal carcinoma, to accurately diagnose FAP.
Engineering Contradictions & Design Principles
Engineering Contradiction Analysis
1Reliability
If genetic tests are used to diagnose FAP, then diagnostic capability is provided, but the results are often unclear and cannot reliably rule out FAP
Solution Approach 1:
The patent transitions from genetic parameter analysis (DNA mutations) to protein expression parameter analysis. By measuring the expression levels of multiple proteins (KRT18, ECH1, and other biomarkers) in tissue samples, the method provides clearer quantitative diagnostic data that overcomes the binary/unclear nature of genetic test results.
Solution Approach 2:
The diagnostic approach combines multiple protein biomarkers into a composite diagnostic profile. Instead of relying on a single genetic marker, the patent analyzes the combined expression patterns of numerous proteins, creating a more robust and clear diagnostic signature that improves both reliability and measurement precision.
2Loss of time
If genetic testing is performed, then FAP detection is attempted, but early detection capability is limited when no clinical signs are present
Solution Approach 1:
The patent enables preliminary diagnosis before clinical symptoms manifest. By detecting altered protein expression profiles in tissue samples from individuals without obvious clinical signs, the method performs the diagnostic action in advance, allowing for earlier intervention while maintaining reliability through multi-biomarker analysis.
Solution Approach 2:
The patent replaces the mechanical/genetic testing approach with a biochemical detection system. By substituting DNA-based diagnostics with protein expression analysis, the method achieves both earlier detection capability and maintained reliability, as protein expression changes occur earlier in the disease progression than genetic mutations become detectable.
3Reliability
If multiple examinations are conducted to rule out FAP, then diagnostic thoroughness is improved, but the complexity and number of procedures increase
Solution Approach 1:
The patent merges multiple diagnostic functions into a single protein expression analysis procedure. By simultaneously measuring the expression levels of multiple protein biomarkers in one tissue sample analysis, the method combines what would otherwise require multiple separate examinations, reducing procedural complexity while maintaining diagnostic thoroughness.
Solution Approach 2:
The protein expression analysis method serves multiple diagnostic functions universally. A single test can diagnose FAP, detect early disease stages, differentiate FAP from sporadic colorectal carcinoma, and provide prognostic information, replacing the need for multiple specialized examinations with one multi-functional diagnostic tool.
Data Source
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AI summary
The invention relates to a method for diagnosing familial andenomatous polyposis (FAP). The method is characterized by the following steps: determining the expression of at least one protein selected from the group consisting of RNF115, HSPA8, HSPD1, ASTN2, KRT9, KRT10, UQCRC1, CCT5, NDUFS1, ACTB, LMNA, ACY1, RUVBL1, CSTF2T, TIGD5, ECH1, ALDH2 and KRT18 in a tissue sample of a first individual; and comparing the expression of the at least one protein in the tissue sample of the first individual with the expression of the at least one protein in a tissue sample of a healthy second individual and/or a third individual with sporadic colorectal carcinoma, wherein the presence of an increased expression of the at least one protein in the tissue sample of the first individual indicates the presence of familial andenomatous polyposis (FAP).