YAP1 R331W SNP Detection for Lung Cancer Risk
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Solution Overview
Problem
Current methods for risk evaluation of lung cancer based on genome typing and protein expression are inaccurate and inefficient, necessitating a more precise approach to assess the risk of developing lung cancer in individuals.
Innovation Solution
A method involving the detection of a specific SNP locus (rs193100333) in DNA samples using primers with sequences SEQ ID NOs: 1 and 2, employing techniques such as primer extension assay via Matrix Assisted Laser Desorption Ionization Time-of-Flight Mass Spectrometry (MALDI-TOF MS), to determine the presence of a mutation on the YAP1 protein associated with lung cancer risk.
Engineering Contradictions & Design Principles
Engineering Contradiction Analysis
1Measurement precision
If current genome typing and protein expression methods are used for lung cancer risk evaluation, then the evaluation can be performed, but the accuracy and efficiency are poor
Solution Approach 1:
The patent segments the complex genome typing and protein expression analysis into a specific focused detection of the YAP1 R331W SNP locus. By concentrating on this single high-risk genetic marker rather than performing comprehensive genomic analysis, the method achieves both improved accuracy for lung cancer risk evaluation and increased efficiency through simplified testing procedures
Solution Approach 2:
The patent applies local quality by identifying and targeting a specific critical region (the YAP1 gene R331W mutation site) rather than analyzing the entire genome uniformly. This localized approach to detecting the specific SNP locus rs193100333 provides high measurement precision for lung cancer risk while maintaining efficiency by avoiding unnecessary broad-spectrum analysis
2Loss of information
If comprehensive genome typing is performed, then more genetic information is obtained, but the complexity and cost increase
Solution Approach 1:
The patent extracts the most critical genetic information relevant to lung cancer risk from the complex genome - specifically the YAP1 R331W SNP locus. By taking out and focusing solely on this high-value genetic marker rather than analyzing the entire genome, the method minimizes information loss for the specific application while dramatically reducing detection complexity and cost
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 method provides a more accurate and efficient means to assess lung cancer risk by identifying the YAP1 R331W mutation, correlating its presence with a higher likelihood of lung adenocarcinoma or ground glass opacity, thereby serving as a potential marker for risk evaluation.
Implementation Method 1
employing techniques such as primer extension assay via Matrix Assisted Laser Desorption Ionization Time-of-Flight Mass Spectrometry (MALDI-TOF MS)
Data Source
AI summary
Disclosed herein is a method of determining whether a subject having or is at risk of developing lung cancer. The presence of the SNP locus of rs193100333, which corresponds to a mutation on YAP1 protein with a substitution of an arginine to a tryptophan at position 331, indicates the subject has or is at risk of developing lung cancer. Accordingly, also disclosed herein is a kit for facilitating the detection of the SNP locus of rs193100333.