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Germline structural variation globally impacts the cancer transcriptome including disease-relevant genes

Fengju Chen1, Yiqun Zhang1, Fritz J Sedlazeck2

  • 1Dan L. Duncan Comprehensive Cancer Center, Baylor College of Medicine, Houston, TX 77030, USA.

Cell Reports. Medicine
|March 5, 2024
PubMed
Summary

Germline structural variants (SVs) significantly impact gene expression in tumors, affecting hundreds of genes. These variations can influence cancer development and patient survival, offering potential targets for genetic testing and cancer therapies.

Keywords:
GWASPCAWGPan-Cancer Analysis of Whole GenomesWhole Genome SequencingcancereQTLexpression quantitative trait locigermlinestructural variantsstructural variation

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