Article
Recommendations for somatic and germline genetic testing of single pheochromocytoma and paraganglioma based on findings from a series of 329 patients.
Journal of medical genetics - 1 Oct 2015
Currás-Freixes Maria, Inglada-Pérez Lucía, Mancikova Veronika, Montero-Conde Cristina, Letón Rocío, Comino-Méndez Iñaki, Apellániz-Ruiz María, Sánchez-Barroso Lara, Aguirre Sánchez-Covisa Miguel, Alcázar Victoria, Aller Javier, Álvarez-Escolá Cristina, Andía-Melero Víctor M, Azriel-Mira Sharona, Calatayud-Gutiérrez María, Díaz José Ángel, Díez-Hernández Alberto, Lamas-Oliveira Cristina, Marazuela Mónica, Matias-Guiu Xavier, Meoro-Avilés Amparo, Patiño-García Ana, Pedrinaci Susana, Riesco-Eizaguirre Garcilaso, Sábado-Álvarez Constantino, Sáez-Villaverde Raquel, Sainz de Los Terreros Amaya, Sanz Guadarrama Óscar, Sastre-Marcos Julia, Scolá-Yurrita Bartolomé, Segura-Huerta Ángel, Serrano-Corredor Maria de la Soledad, Villar-Vicente María Rosa, Rodríguez-Antona Cristina, Korpershoek Esther, Cascón Alberto, Robledo Mercedes
Abstract excerpt
BACKGROUND: Nowadays, 65-80% of pheochromocytoma and paraganglioma (PPGL) cases are explained by germline or somatic mutations in one of 22 genes. Several genetic testing algorithms have been proposed, but they usually exclude sporadic-PPGLs (S-PPGLs) and none include somatic testing. We aimed to genetically characterise S-PPGL cases and propose an evidence-based algorithm for genetic testing, prioritising DNA...
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