Gene Expression Profiling for Breast Cancer Diagnostics
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Solution Overview
Problem
Current diagnostic methods for breast cancer lack precision and reliability, particularly in early detection, due to high false positive and negative rates and the need for prevalent disease populations for effective screening, which can lead to delayed diagnosis and unnecessary surgeries.
Innovation Solution
An in vitro method measuring gene expression in blood samples using oligonucleotide probes and primers targeting differentially expressed genes identified in breast cancer patients, compared to healthy controls, to detect specific gene expression patterns indicative of breast cancer.
Engineering Contradictions & Design Principles
Engineering Contradiction Analysis
1Loss of time
If mammography screening is used for breast cancer detection, then early detection capability is provided, but false positive and negative rates increase leading to delayed diagnosis and unnecessary surgeries
Solution Approach 1:
The patent changes the detection parameter from anatomical imaging (mammography) to molecular biology parameters (gene expression profiles). By measuring the expression levels of specific genes in blood samples and comparing them to established thresholds, the method achieves both early detection and high diagnostic accuracy, resolving the contradiction between early detection and reliability.
2Reliability
If gene expression profiling is performed on prevalent disease populations, then diagnostic reliability is improved, but detection of early stage cancer is delayed
Solution Approach 1:
The patent performs gene expression profiling on blood samples from asymptomatic individuals before clinical symptoms appear. By establishing baseline gene expression patterns and comparing them to predefined thresholds derived from population studies, the method detects cancer at very early stages, enabling intervention before the disease becomes prevalent and symptomatic.
3Ease of operation
If blood-based gene expression analysis is used, then non-invasive early detection is achieved, but measurement precision requirements increase
Solution Approach 1:
The patent focuses on measuring the expression levels of specific, predetermined genes rather than performing comprehensive genomic analysis. By selecting a targeted panel of genes known to be differentially expressed in breast cancer, the method achieves high measurement precision for clinically relevant markers while maintaining the simplicity of blood sample collection.
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 reliable and early detection of breast cancer by identifying specific gene expression patterns in blood samples, potentially reducing false positives and negatives and allowing for earlier intervention.
Implementation Method 1
measuring the level of gene expression of all of the genes set forth in Table 1 or all of the genes set forth in Table 2 in a blood sample
Data Source
Figure 1A~1D
Figure 2
Figure 3A~3B
AI summary
The present invention provides a method for diagnosing, identifying or monitoring proliferative disorders due to e.g cancer preferably breast cancer in a subject by measuring the change of gene expression in a sample e.g. a blood sample. The present invention also encompasses oligonucleotide probes and primers corresponding to genes differentially expressed compared to the expression pattern in a normal cell. The use of such oligonucleotides is also an aspect of the invention together with a kit comprising said oligonucleotides.