Non-hotspot PIK3CA mutations are more frequent in CLOVES than in common or combined lymphatic malformations

Non-hotspot PIK3CA mutations are more frequent in CLOVES than in common or combined lymphatic malformations

Abstract Background Theragnostic management, treatment according to precise pathological molecular targets, requests to unravel patients’ genotypes. We used targeted next-generation sequencing (NGS) or digital droplet polymerase chain reaction (ddPCR) to screen for somatic PIK3CA mutations on DNA ex...

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Bibliographic Details
Main Authors: Pascal Brouillard, Matthieu J. Schlögel, Nassim Homayun Sepehr, Raphaël Helaers, Angela Queisser, Elodie Fastré, Simon Boutry, Sandra Schmitz, Philippe Clapuyt, Frank Hammer, Anne Dompmartin, Annamaria Weitz-Tuoretmaa, Jussi Laranne, Louise Pasquesoone, Catheline Vilain, Laurence M. Boon, Miikka Vikkula
Format: Article
Language:English
Published: BMC 2021-06-01
Series:Orphanet Journal of Rare Diseases
Subjects:
Lymphatic malformation
Isolated
Gene
Mutation
Somatic
PI3K
Online Access:https://doi.org/10.1186/s13023-021-01898-y

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