Researchers at Baylor College of Medicine investigated the impact of germline or inherited structural variations on gene expression in human cancers. Published in Cell Reports Medicine, the study found that specific germline structural variations could be potential candidates for cancer genetic testing, especially those involving genes with therapeutic targeting implications. Structural variations are changes in the genome that can affect gene function and contribute to disease, including cancer. The study utilized data from the Pan-Cancer Analysis of Whole Genomes consortium, identifying genes whose expression was influenced by germline structural variations. This research highlights the role of germline structural variations in cancer development and suggests further investigation into their value in genetic testing.
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Genetic germline variations influence expression of cancer cell genes, finds study
