VAF–tumor content graph: a simple visual framework for interpreting hereditary cancer variants and supporting genetic counseling in tumor-only sequencing

Abstract excerpt

Comprehensive genomic profiling (CGP) using tumor-only sequencing detects pathogenic or likely pathogenic (P/LP) variants in hereditary cancer susceptibility genes (HCSGs). However, interpreting the biological origin and clinical significance of detected variants is often challenging, complicating communication and decision-making during genetic counseling. We developed a variant allele frequency (VAF)-Tumor...

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