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Gain-of-function mutations in DNMT3Ain patients with paraganglioma

Authors :
Remacha, Laura
Currás-Freixes, Maria
Torres-Ruiz, Raúl
Schiavi, Francesca
Torres-Pérez, Rafael
Calsina, Bruna
Letón, Rocío
Comino-Méndez, Iñaki
Roldán-Romero, Juan M
Montero-Conde, Cristina
Santos, María
Pérez, Lucía Inglada
Pita, Guillermo
Alonso, María R.
Honrado, Emiliano
Pedrinaci, Susana
Crespo-Facorro, Benedicto
Percesepe, Antonio
Falcioni, Maurizio
Rodríguez-Perales, Sandra
Korpershoek, Esther
Ramón-Maiques, Santiago
Opocher, Giuseppe
Rodríguez-Antona, Cristina
Robledo, Mercedes
Cascón, Alberto
Source :
Genetics in Medicine; December 2018, Vol. 20 Issue: 12 p1644-1651, 8p
Publication Year :
2018

Abstract

The high percentage of patients carrying germline mutations makes pheochromocytomas/paragangliomas the most heritable of all tumors. However, there are still cases unexplained by mutations in the known genes. We aimed to identify the genetic cause of disease in patients strongly suspected of having hereditary tumors.

Details

Language :
English
ISSN :
10983600 and 15300366
Volume :
20
Issue :
12
Database :
Supplemental Index
Journal :
Genetics in Medicine
Publication Type :
Periodical
Accession number :
ejs59919975
Full Text :
https://doi.org/10.1038/s41436-018-0003-y