Cascon Soriano, AlbertoRobledo Batanero, Mercedes2025-01-172025-01-172024-09Biochim Biophys Acta Rev Cancer . 2024 Sep;1879(5):189141.https://hdl.handle.net/20.500.12105/26051Over the past two decades, research into the genetic susceptibility behind pheochromocytoma and paraganglioma (PPGL) has surged, ranking them among the most heritable tumors. Massive sequencing combined with careful patient selection has so far identified more than twenty susceptibility genes, leading to an over-detection of variants of unknown significance (VUS) that require precise molecular markers to determine their pathogenic role. Moreover, some PPGL patients remain undiagnosed, possibly due to mutations in regulatory regions of already known genes or mutations in undiscovered genes. Accurate classification of VUS and identification of new genes require well-defined clinical and molecular markers that allow effective genetic diagnosis of most PPGLs.A.C. is funded by the Instituto de Salud Carlos III (ISCIII), through the "Accion Estrategica en Salud " (AES) (project PI22/01490) . M.R is funded by grants from the Instituto de Salud Carlos III (ISCIII), through the " Accion Estrategica en Salud " (AES) (project PI20/01169), Paradifference Foundation, and the Pheipas Association.engVoRhttp://creativecommons.org/licenses/by-nc-nd/4.0/Cancer geneticsMolecular markersOmicsParagangliomaPheochromocytomaAttribution-NonCommercial-NoDerivatives 4.0 International3890853618795189141BIOCHIMICA ET BIOPHYSICA ACTA-REVIEWS ON CANCERopen access