Cancer Predisposition Sequencing Reporter (CPSR)

Cancer Predisposition Sequencing Reporter (CPSR) interprets and classifies germline DNA variants from next-generation sequencing data to identify variants associated with inherited cancer predisposition.

Key Features:

• ACMG-Based Variant Classification: Classifies germline variants using more than 30 criteria derived from American College of Medical Genetics and Genomics (ACMG) guidelines.
• Cancer Predisposition Gene Reporting: Generates reports for germline variants detected in known cancer predisposition genes.
• Virtual Gene Panel Selection: Supports analysis using more than 40 expert-curated virtual gene panels for inherited cancer screening.
• Incidental Finding Identification: Reports incidental germline variants according to ACMG v3.0 recommendations.
• GWAS Risk Variant Annotation: Annotates germline variants associated with cancer risk using data from the NHGRI-EBI GWAS Catalog.

Scientific Applications:

• Inherited Cancer Genomics: Identifies germline variants associated with hereditary cancer syndromes.
• Clinical Genomic Interpretation: Supports interpretation of germline variants for diagnostic, prognostic, and therapeutic relevance.
• Precision Oncology Research: Analyzes germline variants in genes involved in cancer susceptibility and DNA repair pathways.

Methodology:

CPSR analyzes germline variants detected from next-generation sequencing data, annotates variants using curated cancer predisposition gene panels and GWAS datasets, and applies ACMG guideline-based criteria to classify variants and generate structured reports.