Pan-cancer copy number variant analysis identifies optimized size thresholds and co-occurrence models for individualized risk-stratification

Res Sq [Preprint]. 2024 Jan 11:rs.3.rs-3443805. doi: 10.21203/rs.3.rs-3443805/v1.

Abstract

Chromosome instability leading to accumulation of copy number gains or losses is a hallmark of cancer. Copy number variant (CNV) signatures are increasingly used for clinical risk-stratification, but size thresholds for defining CNVs are variable and the biological or clinical implications of CNV size heterogeneity or co-occurrence patterns are incompletely understood. Here we analyze CNV and clinical data from 565 meningiomas and 9,885 tumors from The Cancer Genome Atlas (TCGA) to develop tumor-and chromosome-specific CNV size-dependent and co-occurrence models for clinical outcomes. Our results reveal prognostic CNVs with optimized size thresholds and co-occurrence patterns that refine risk-stratification across a diversity of human cancers.

Publication types

  • Preprint