Chromosomal Aberration Scoring for HRD Assessment

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Solution Overview

Problem

Current cancer treatment methods lack effective molecular diagnostic tools to characterize patient-specific cancer characteristics for personalized treatment plans, particularly in assessing homologous recombination deficiency (HRD) in cancer cells.

Innovation Solution

A method involving the detection and analysis of chromosomal aberrations (CA Regions) such as LOH, TAI, and LST in cancer cells to determine HRD, using a combined analysis of these regions to assess HRD through determining their number, size, and character, and calculating CA Region Scores to predict treatment responses.

Engineering Contradictions & Design Principles

VSEngineering Contradiction Analysis

1Adaptability or versatility

If molecular diagnostic tools are used to characterize patient-specific cancer characteristics, then treatment personalization is improved, but device complexity and measurement precision requirements increase

Engineering Contradiction:
Improvetreatment personalizationVSAvoiddiagnostic tool complexity
Core Design Contradiction:
Adaptability or versatilityVSDevice complexity

Solution Approach 1:

The patent segments the complex task of HRD assessment into distinct chromosomal aberration types (LOH regions, TAI regions, LST regions), each detected and analyzed separately before being integrated into a comprehensive HRD score. This segmentation simplifies the overall diagnostic process by breaking down the complex molecular characterization into manageable, standardized components that can be detected using established genomic technologies.

Inventive Principle:
Principle #1Segmentation

2Measurement precision

If comprehensive chromosomal aberration analysis is performed to assess HRD, then measurement precision is improved, but difficulty of detecting and measuring increases

Engineering Contradiction:
ImproveHRD assessment accuracyVSAvoidchromosomal aberration detection complexity
Core Design Contradiction:
Measurement precisionVSDifficulty of detecting and measuring

Solution Approach 1:

The patent employs a universal scoring system (CA Region Score) that integrates multiple types of chromosomal aberrations (LOH, TAI, LST) into a single comprehensive HRD assessment metric. This multi-functional approach allows the same analytical framework to evaluate different aberration types uniformly, improving measurement precision while simplifying the interpretation complexity through standardized scoring criteria.

Inventive Principle:
Principle #6Universality (Multi-functionality)

3Reliability

If multiple types of chromosomal aberration regions are analyzed, then reliability of HRD assessment is improved, but device complexity and analysis time increase

Engineering Contradiction:
ImproveHRD assessment reliabilityVSAvoidanalysis system complexity
Core Design Contradiction:
ReliabilityVSDevice complexity

Solution Approach 1:

The patent merges multiple types of chromosomal aberration analyses (LOH regions, TAI regions, LST regions) into a unified HRD assessment framework. By combining these different aberration types into a single integrated scoring system, the patent improves reliability through comprehensive evaluation while managing complexity through standardized integration protocols that can be implemented using existing genomic analysis platforms.

Inventive Principle:
Principle #5Merging (Combining)

Data Source

PatentUS20250223655A1Methods and materials for assessing homologous recombination deficiency
Publication Date: 2025.07.10 MYRIAD GENETICS INC
  • US20250223655A1 patent drawing
  • US20250223655A1 patent drawing
  • US20250223655A1 patent drawing

AI summary

This document provides methods and materials involved in assessing samples (e.g., cancer cells) for the presence of homologous recombination deficiency (HRD) or an HRD signature. For example, methods and materials for determining whether or not a cell (e.g., a cancer cell) contains an HRD signature are provided. Materials and methods for identifying cells (e.g., cancer cells) having a deficiency in homology directed repair (HDR) as well as materials and methods for identifying cancer patients likely to respond to a particular cancer treatment regimen also are provided.