MUC4 Gene Mutation Detection for Gastric Cancer Diagnosis
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Solution Overview
Problem
Current methods for predicting or diagnosing gastric cancer are limited by inconsistent results and small effect sizes of single nucleotide polymorphisms (SNPs), particularly in identifying effective biomarkers for familial and intestinal-type gastric cancer.
Innovation Solution
A composition and kit for detecting mutations in the MUC4 gene at specific loci (rs774527434, rs534579185, rs77250903, rs868067409, rs531395109, rs754808151, rs1304612772, rs774907241, rs771925912, rs745342765, rs148735556, rs11717039, and rs547775645) are used to predict or diagnose gastric cancer, with a method involving genomic DNA extraction and mutation detection.
Engineering Contradictions & Design Principles
Engineering Contradiction Analysis
1Reliability
If single nucleotide polymorphisms (SNPs) are used for predicting or diagnosing gastric cancer, then the diagnostic method can be implemented, but the effect size is small and results are inconsistent
Solution Approach 1:
The patent segments the diagnostic approach by focusing on specific functional regions of the MUC4 gene (exons 2 and 24) rather than analyzing the entire genome or using multiple scattered SNPs. This segmentation allows for targeted detection of mutations that have larger effect sizes and more consistent diagnostic value for gastric cancer prediction.
2Reliability
If MUC4 gene mutation detection is performed at multiple loci, then the prediction and diagnosis accuracy improves, but the complexity of the detection system increases
Solution Approach 1:
The patent extracts and focuses on specific critical loci (rs774527434, rs534579185, rs77250903, rs868067409, rs531395109, rs754808151, rs1304612772, rs774907241, rs771925912, rs745342765, rs148735556, rs11717039, and rs547775645) within the MUC4 gene that are most strongly associated with gastric cancer. By taking out only these specific loci for detection rather than analyzing the entire gene or multiple genes, the system achieves high accuracy while maintaining manageable complexity.
Solution Approach 2:
The detection system is designed to be universal by covering multiple loci within the MUC4 gene that can collectively predict different types of gastric cancer (intestinal-type and familial gastric cancer). This multi-loci approach provides a comprehensive diagnostic tool that can identify various cancer subtypes through a single integrated detection platform.
Data Source
AI summary
The present invention in which a MUC4 gene is discovered as a biomarker for predicting or diagnosis gastric cancer relates to a composition and kit capable of predicting or diagnosing gastric cancer when a mutation is present on the gene and to a method for providing information therefor. The composition according to an aspect of the present invention allows the detection of a mutation at one or more loci selected from the group consisting of rs774527434, rs534579185, rs77250903, rs868067409, rs531395109, rs754808151, rs1304612772, rs774907241, rs771925912, rs745342765, rs148735556, rs11717039, and rs547775645 on MUC4 gene, thus exhibiting an excellent effect of predicting or diagnosing gastric cancer in a cost and time effective manner for multiple subjects to be tested.