—

Print
Save
Email this link

Share Link

Copy this link, or click below to email it to a friend
Email this link
or copy the link directly:

https://jme.bioscientifica.com/search?f_0=author&pageSize=10&q_0=Alberto+Casc%C3%B3n&sort=relevance
The link was not copied. Your current browser may not support copying via this button.

Link copied successfully

Search Results

You are looking at 1 - 1 of 1 items for

Author: Alberto Cascón x

Refine by access: All content x

Genetic bases of pheochromocytoma and paraganglioma

Alberto Cascón

Alberto Cascón Hereditary Endocrine Cancer Group, Spanish National Cancer Research Centre (CNIO), Madrid, Spain
Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), Madrid, Spain

Search for other papers by Alberto Cascón in
Google Scholar
PubMed

Bruna Calsina

Bruna Calsina Hereditary Endocrine Cancer Group, Spanish National Cancer Research Centre (CNIO), Madrid, Spain

Search for other papers by Bruna Calsina in
Google Scholar
PubMed

María Monteagudo

María Monteagudo Hereditary Endocrine Cancer Group, Spanish National Cancer Research Centre (CNIO), Madrid, Spain

Search for other papers by María Monteagudo in
Google Scholar
PubMed

Sara Mellid

Sara Mellid Hereditary Endocrine Cancer Group, Spanish National Cancer Research Centre (CNIO), Madrid, Spain

Search for other papers by Sara Mellid in
Google Scholar
PubMed

Alberto Díaz-Talavera

Alberto Díaz-Talavera Hereditary Endocrine Cancer Group, Spanish National Cancer Research Centre (CNIO), Madrid, Spain
Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), Madrid, Spain

Search for other papers by Alberto Díaz-Talavera in
Google Scholar
PubMed

Maria Currás-Freixes

Maria Currás-Freixes Hereditary Endocrine Cancer Group, Spanish National Cancer Research Centre (CNIO), Madrid, Spain

Search for other papers by Maria Currás-Freixes in
Google Scholar
PubMed

, and

Mercedes Robledo

Mercedes Robledo Hereditary Endocrine Cancer Group, Spanish National Cancer Research Centre (CNIO), Madrid, Spain
Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), Madrid, Spain

Search for other papers by Mercedes Robledo in
Google Scholar
PubMed

The genetics of pheochromocytoma and paraganglioma (PPGL) has become increasingly complex over the last two decades. The list of genes involved in the development of these tumors has grown steadily, and there are currently more than 20 driver genes implicated in either the hereditary or the sporadic nature of the disease. Although genetic diagnosis is achieved in about 75–80% of patients, genetic etiology remains unexplained in a significant percentage of cases. Patients lacking a genetic diagnosis include not only those with apparently sporadic PPGL but also patients with a family history of the disease or with multiple tumors, that meet the criteria to be considered as candidates for carrying germline mutations in yet undiscovered genes. Mutations in known PPGL genes deregulate three main signaling pathways (hypoxia, kinase signaling, and Wnt-signaling pathways), which could be the starting point for the development of personalized treatment for PPGL patients. Furthermore, the integration of results from several genomic high-throughput platforms enables the discovery of regulatory mechanisms that cannot be identified by analyzing each piece of information separately. These strategies are powerful tools for elucidating optimal therapeutic options based on molecular biomarkers in PPGL and represent an important step toward the achievement of precision medicine for patients with metastatic PPGL.