Universal Microsatellite Instability Marker Panel for Cancer Detection
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Solution Overview
Problem
Current methods for detecting microsatellite instability (MSI) in tumors, such as the Bethesda panel, have low sensitivity and are cancer-type specific, requiring specialized equipment and techniques, limiting their applicability and accuracy across different cancer types.
Innovation Solution
Development of a new panel of microsatellite instability markers, including indels in coding and non-coding regions, that can be detected using next-generation sequencing, providing a more sensitive and generalizable method for MSI status determination across various cancer types without the need for specialized equipment.
Engineering Contradictions & Design Principles
Engineering Contradiction Analysis
1Reliability
If the Bethesda panel method is used for MSI detection, then the detection can be performed with established protocols, but the sensitivity is low and it is cancer-type specific
Solution Approach 1:
The patent develops a new panel of microsatellite markers that can detect MSI across multiple cancer types including colorectal, endometrial, ovarian, gastric, and pancreatic cancers. The markers are selected to be universally applicable rather than cancer-type specific, allowing a single panel to serve multiple diagnostic purposes across different malignancies.
Solution Approach 2:
The patent changes the parameters of MSI detection by using a different set of microsatellite markers with optimized characteristics. The new panel includes markers with specific repeat lengths and genomic locations that provide higher sensitivity and broader cancer-type coverage compared to the traditional Bethesda panel markers.
2Measurement precision
If specialized equipment and techniques are used for MSI detection, then the detection accuracy can be maintained, but the applicability and accessibility are limited
Solution Approach 1:
The patent enables MSI detection using next-generation sequencing technology, which creates a copy of the diagnostic capability available through common genomic sequencing platforms. This allows laboratories to perform MSI detection using standard NGS workflows and equipment that are already widely available, rather than requiring specialized MSI-specific instrumentation.
Solution Approach 2:
The new marker panel is designed to be compatible with standard next-generation sequencing platforms that are already universally used in genomic laboratories. This multi-functional approach allows the same sequencing equipment used for other genomic applications to also perform MSI detection, eliminating the need for specialized equipment.
3Reliability
If multiple sequencing platforms are used for different cancer types, then the detection accuracy for each cancer type can be optimized, but the complexity and cost increase
Solution Approach 1:
The patent provides a single universal marker panel that can be used across all cancer types with any next-generation sequencing platform. This eliminates the need for multiple cancer-type-specific panels and the corresponding multiple sequencing platforms, reducing laboratory complexity while maintaining detection accuracy through the optimized universal marker selection.
Data Source
AI summary
The present application relates to the field of cancer, particularly to mismatch repair (MMR−) deficient tumors. New markers are presented herein that have a high sensitivity to detect whether a tumor is mismatch repair deficient or not. The markers are particularly mutations in microsatellite regions. Accordingly, methods are provided for diagnosing microsatellite instability of a tumor, comprising determining the presence of these markers. Further, kits are provided to detect the presence of these markers (or subsets thereof) in a sample.


