ARID1A and PPP2R1A Mutation Detection via Segmented Analysis

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Solution Overview

Problem

Current methods lack effective detection and diagnosis tools for identifying specific mutations in ARID1A and PPP2R1A genes, which are crucial for diagnosing and managing various types of cancer, particularly ovarian clear cell carcinoma, breast, colon, gastric, lung, medulloblastoma, and prostate cancers.

Innovation Solution

The disclosure provides methods for detecting mutations in ARID1A and PPP2R1A genes by analyzing nucleic acids and proteins, using techniques such as PCR, sequencing, and hybridization-based approaches to identify specific mutations, enabling early detection, diagnosis, and treatment monitoring of these cancers.

Engineering Contradictions & Design Principles

VSEngineering Contradiction Analysis

1Measurement precision

If conventional detection methods are used, then general cancer screening is possible, but specific mutation detection in ARID1A and PPP2R1A genes cannot be achieved

Engineering Contradiction:
Improvemutation detection accuracyVSAvoiddetection method complexity
Core Design Contradiction:
Measurement precisionVSDevice complexity

Solution Approach 1:

The patent segments the detection process into specific targeted analysis of ARID1A and PPP2R1A genes rather than general cancer screening. This segmentation allows for precise detection of mutations in these specific genes using specialized methods like next-generation sequencing and immunohistochemistry, resolving the contradiction between detection precision and method complexity by focusing resources on specific genetic targets.

Inventive Principle:
Principle #1Segmentation

Solution Approach 2:

The patent employs intermediary molecules and techniques such as oligonucleotide probes, antibodies, and sequencing intermediates that specifically bind to or detect mutations in ARID1A and PPP2R1A genes. These intermediaries enable precise mutation detection without requiring direct observation, thus achieving high measurement precision while managing device complexity through the use of specialized biological mediators.

Inventive Principle:
Principle #24Intermediary (Mediator)

2Reliability

If early detection methods are implemented, then patient outcomes can be improved, but current methods lack the specificity to identify ARID1A and PPP2R1A mutations

Engineering Contradiction:
Improvediagnosis reliabilityVSAvoidmutation detection difficulty
Core Design Contradiction:
ReliabilityVSDifficulty of detecting and measuring

Solution Approach 1:

The patent applies preliminary action by implementing specific screening protocols and detection methods tailored for ARID1A and PPP2R1A mutations before definitive diagnosis is made. This preliminary targeted detection increases diagnosis reliability by identifying specific mutations early in the diagnostic process, making the subsequent confirmation easier and more reliable.

Inventive Principle:
Principle #10Preliminary action

Solution Approach 2:

The patent replaces conventional mechanical or general biochemical detection methods with advanced molecular techniques such as next-generation sequencing and immunohistochemistry. These substituted methods specifically target ARID1A and PPP2R1A mutations, overcoming the difficulty of detection by using highly specific molecular recognition mechanisms instead of general screening approaches.

Inventive Principle:
Principle #28Mechanics substitution (Replace mechanical system)

3Adaptability or versatility

If personalized treatment strategies are developed, then patient outcomes improve, but this requires accurate identification of specific gene mutations

Engineering Contradiction:
Improvetreatment personalizationVSAvoidmutation identification accuracy
Core Design Contradiction:
Adaptability or versatilityVSMeasurement precision

Solution Approach 1:

The patent applies local quality by tailoring the detection approach specifically to ARID1A and PPP2R1A genes rather than using uniform detection methods across all cancer types. This localized specialized detection enables accurate mutation identification in these specific genes, which is essential for developing personalized treatment strategies that adapt to the specific genetic profile of each patient's cancer.

Inventive Principle:
Principle #3Local quality

Solution Approach 2:

The patent utilizes parameter changes in detection sensitivity and specificity by employing advanced methods like next-generation sequencing and immunohistochemistry that can detect subtle mutations in ARID1A and PPP2R1A genes. These parameter changes in detection capability enable accurate mutation identification, which is the foundation for personalized treatment strategies that can be adapted to each patient's specific genetic profile.

Inventive Principle:
Principle #35Parameter changes

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

These methods enable accurate detection and diagnosis of cancer, contributing to personalized treatment strategies and improving patient outcomes by identifying specific mutations in ARID1A and PPP2R1A genes across multiple cancer types.

Implementation Method 1

PCR, sequencing, and hybridization-based approaches

Methodology Applied
Scientific EffectPCR (Polymerase Chain Reaction):

Implementation Method 2

PCR, sequencing, and hybridization-based approaches to identify specific mutations

Methodology Applied
Scientific EffectDNA Sequencing:

Implementation Method 3

PCR, sequencing, and hybridization-based approaches

Methodology Applied
Scientific EffectNucleic acid hybridization:

Data Source

PatentUS9982304B2ARID1A and PPP2R1A mutations in cancer
Publication Date: 2018.05.29 JOHNS HOPKINS UNIVERSITY
  • US9982304B2 patent drawing
  • US9982304B2 patent drawing
  • US9982304B2 patent drawing

AI summary

Two genes, ARID1A (AT-rich interactive domain-containing protein 1A) and PPP2R1A (protein-phosphatase 2, regulatory subunit 1, alpha), can be used in methods which are useful for detecting cancer, diagnosing cancer, contributing to a diagnosis of cancer, confirming a diagnosis of cancer, identifying appropriate treatments for cancer, monitoring treatment of cancer, and evaluating treatment protocols for cancer, including ovarian clear cell carcinoma, breast cancer, colon cancer, gastric cancer, lung cancer, medulloblastoma, pancreatic cancer, and prostate cancer.