Title: | Exome sequencing identifies germline variants in DIS3 in familial multiple myeloma |
Author: | Pertesi, Maroulio Vallée, Maxime Wei, Xiaomu Revuelta, Maria V. Galia, Perrine Demangel, Delphine Oliver, Javier Foll, Matthieu Chen, Siwei Perrial, Emeline Garderet, Laurent Corre, Jill Leleu, Xavier Boyle, Eileen M. Decaux, Olivier Rodon, Philippe Kolb, Brigitte Slama, Borhane Mineur, Philippe Voog, Eric Bris, Catherine Le Fontan, Jean Maigre, Michel Beaumont, Marie Azais, Isabelle Sobol, Hagay Vignon, Marguerite Royer, Bruno Perrot, Aurore Fuzibet, Jean-Gabriel Dorvaux, Véronique Anglaret, Bruno Cony-Makhoul, Pascale Berthou, Christian Desquesnes, Florence Pegourie, Brigitte Leyvraz, Serge Mosser, Laurent Frenkiel, Nicole Augeul-Meunier, Karine Leduc, Isabelle Leyronnas, Cécile Voillat, Laurent Casassus, Philippe Mathiot, Claire Cheron, Nathalie Paubelle, Etienne Moreau, Philippe Bignon, Yves-Jean Joly, Bertrand Bourquard, Pascal Caillot, Denis Naman, Hervé Rigaudeau, Sophie Marit, Gérald Macro, Margaret Lambrecht, Isabelle Cliquennois, Manuel Vicent, Laure Helias, Philippe Avet-Loiseau, Hervé Moreno Aguado, Víctor Reis, Rui Manuel Varkonyi, Judit Kruszewski, Marcin Vangsted, Annette Juul Jurczyszyn, Artur Zaucha, Jan Maciej Sainz, Juan Krawczyk-Kulis, Malgorzata Wątek, Marzena Pelosini, Matteo Iskierka-Jażdżewska, Elzbieta Grząśko, Norbert Martínez López, Joaquin Jerez, Andrés Campa, Daniele Buda, Gabriele Lesueur, Fabienne Dudziński, Marek García Sanz, Ramón Nagler, Arnon Rymko, Marcin Jamroziak, Krzysztof Butrym, Aleksandra Canzian, Federico Obazee, Ofure Nilsson, Björn Klein, Robert J. Lipkin, Steven M. McKay, James D. Dumontet, Charles |
Keywords: | Mieloma múltiple Genètica Multiple myeloma Genetics |
Issue Date: | 1-Sep-2019 |
Publisher: | Springer Nature |
Abstract: | Multiple myeloma (MM) is the third most common hematological malignancy, after Non-Hodgkin Lymphoma and Leukemia. MM is generally preceded by Monoclonal Gammopathy of Undetermined Significance (MGUS) [1], and epidemiological studies have identified older age, male gender, family history, and MGUS as risk factors for developing MM [2]. The somatic mutational landscape of sporadic MM has been increasingly investigated, aiming to identify recurrent genetic events involved in myelomagenesis. Whole exome and whole genome sequencing studies have shown that MM is a genetically heterogeneous disease that evolves through accumulation of both clonal and subclonal driver mutations [3] and identified recurrently somatically mutated genes, including KRAS, NRAS, FAM46C, TP53, DIS3, BRAF, TRAF3, CYLD, RB1 and PRDM1 [3,4,5]. |
Note: | Reproducció del document publicat a: https://doi.org/10.1038/s41375-019-0452-6 |
It is part of: | Leukemia, 2019, vol. 33, num. 9, p. 2324-2330 |
URI: | http://hdl.handle.net/2445/171340 |
Related resource: | https://doi.org/10.1038/s41375-019-0452-6 |
ISSN: | 0887-6924 |
Appears in Collections: | Articles publicats en revistes (Ciències Clíniques) Articles publicats en revistes (Institut d'lnvestigació Biomèdica de Bellvitge (IDIBELL))
|