2026-04-26T23:12:45Zhttps://repisalud.isciii.es/rest/oai/request

oai:repisalud.isciii.es:20.500.12105/260512025-12-18T12:56:19Zcom_20.500.12105_2173com_20.500.12105_2051col_20.500.12105_19597

00925njm 22002777a 4500 dc Cascon Soriano, Alberto author Robledo Batanero, Mercedes author 2024-09 Over 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. Biochim Biophys Acta Rev Cancer . 2024 Sep;1879(5):189141. https://hdl.handle.net/20.500.12105/26051 38908536 BIOCHIMICA ET BIOPHYSICA ACTA-REVIEWS ON CANCER Cancer genetics Molecular markers Omics Paraganglioma Pheochromocytoma Clinical and molecular markers guide the genetics of pheochromocytoma and paraganglioma.