TY  - GEN
AU  - Remacha, Laura
AU  - Currás-Freixes, Maria
AU  - Torres-Ruiz, Raúl
AU  - Schiavi, Francesca
AU  - Torres-Pérez, Rafael
AU  - Calsina, Bruna
AU  - Letón, Rocío
AU  - Comino-Méndez, Iñaki
AU  - Roldán-Romero, Juan M
AU  - Montero-Conde, Cristina
AU  - Santos, María
AU  - Pérez, Lucía Inglada
AU  - Pita, Guillermo
AU  - Alonso, María R
AU  - Honrado, Emiliano
AU  - Pedrinaci, Susana
AU  - Crespo-Facorro, Benedicto
AU  - Percesepe, Antonio
AU  - Falcioni, Maurizio
AU  - Rodríguez-Perales, Sandra
AU  - Korpershoek, Esther
AU  - Ramón-Maiques, Santiago
AU  - Opocher, Giuseppe
AU  - Rodríguez-Antona, Cristina
AU  - Robledo Batanero, Mercedes
AU  - Cascon Soriano, Alberto
PY  - 2018
UR  - https://hdl.handle.net/20.500.12105/26053
AB  - 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...
AB  - Whole-exome sequencing was applied to the germlines of a parent-proband trio. Genome-wide methylome analysis, RNA-seq, CRISPR/Cas9 gene editing, and targeted sequencing were also performed.
AB  - We identified a novel de novo germline mutation in DNMT3A, affecting a highly conserved residue located close to the aromatic cage that binds to trimethylated histone H3. DNMT3A-mutated tumors exhibited significant hypermethylation of...
AB  - Our findings suggest that DNMT3A may be a susceptibility gene for paragangliomas and, if confirmed in future studies, would represent the first example of gain-of-function mutations affecting a DNA methyltransferase gene involved in cancer predisposition.
LA  - eng
PB  - Elsevier
KW  - CRISPR/Cas9 gene editing
KW  - DNMT3A
KW  - exome sequencing
KW  - hypermethylation
KW  - paraganglioma
TI  - Gain-of-function mutations in DNMT3A in patients with paraganglioma.
TY  - research article
ER  -