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Article

Global impact of germline structural variation on the cancer proteome.

Nature communications - 14 Apr 2026

Chen Fengju, Zhang Yiqun, Paulin Luis F, Chandrashekar Darshan S, Varambally Sooryanarayana, Sedlazeck Fritz J, Creighton Chad J

Abstract excerpt

Proteome and transcriptome data combined can help assess the relevance of non-coding germline variants. Here, we combine germline Structural Variants (SVs) with mass spectrometry-based proteomics on tumors from 1637 cancer patients spanning various tumor tissues of origin to determine the extent SV breakpoint patterns involve differential protein expression of nearby genes. Rare and singleton SVs disrupting...

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Identifiers

PMID: 41980961
DOI: 10.1038/s41467-026-71967-y
PMCID: PMC13254347

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