2026-04-26T23:12:46Zhttps://repisalud.isciii.es/rest/oai/requestoai:repisalud.isciii.es:20.500.12105/260512025-12-18T12:56:19Zcom_20.500.12105_2173com_20.500.12105_2051col_20.500.12105_19597
Repisalud
author
Cascon Soriano, Alberto
author
Robledo Batanero, Mercedes
funder
Instituto de Salud Carlos III
funder
ACEV Foundation
funder
Pheipas Association
2025-01-17T12:47:41Z
2025-01-17T12:47:41Z
2024-09
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
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.
eng
Cancer genetics
Molecular markers
Omics
Paraganglioma
Pheochromocytoma
Clinical and molecular markers guide the genetics of pheochromocytoma and paraganglioma.
research article
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URL
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File
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application/pdf
clinicalandmolecularmarkers-2024.pdf