Article
Comprehensive genomic and epigenomic analysis in cancer of unknown primary guides molecularly-informed therapies despite heterogeneity.
Nature communications - 2 Aug 2022
Möhrmann Lino, Werner Maximilian, Oleś Małgorzata, Mock Andreas, Uhrig Sebastian, Jahn Arne, Kreutzfeldt Simon, Fröhlich Martina, Hutter Barbara, Paramasivam Nagarajan, Richter Daniela, Beck Katja, Winter Ulrike, Pfütze Katrin, Heilig Christoph E, Teleanu Veronica, Lipka Daniel B, Zapatka Marc, Hanf Dorothea, List Catrin, Allgäuer Michael, Penzel Roland, Rüter Gina, Jelas Ivan, Hamacher Rainer, Falkenhorst Johanna, Wagner Sebastian, Brandts Christian H, Boerries Melanie, Illert Anna L, Metzeler Klaus H, Westphalen C Benedikt, Desuki Alexander, Kindler Thomas, Folprecht Gunnar, Weichert Wilko, Brors Benedikt, Stenzinger Albrecht, Schröck Evelin, Hübschmann Daniel, Horak Peter, Heining Christoph, Fröhling Stefan, Glimm Hanno
Abstract excerpt
The benefit of molecularly-informed therapies in cancer of unknown primary (CUP) is unclear. Here, we use comprehensive molecular characterization by whole genome/exome, transcriptome and methylome analysis in 70 CUP patients to reveal substantial mutational heterogeneity with TP53, MUC16, KRAS, LRP1B and CSMD3 being the most frequently mutated known cancer-related genes. The most common fusion partner is FGFR2,...
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