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Exome sequencing of pleuropulmonary blastoma reveals frequent biallelic loss of TP53 and two hits in DICER1 resulting in retention of 5p-derived miRNA hairpin loop sequences

Pleuropulmonary blastoma is a rare childhood malignancy of lung mesenchymal cells that can remain dormant as epithelial cysts or progress to high-grade sarcoma. Predisposing germline loss-of-function DICER1 variants have been described. We sought to uncover additional contributors through whole exom...

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Detalles Bibliográficos
Autores principales: Pugh, T J, Yu, W, Yang, J, Field, A L, Ambrogio, L, Carter, S L, Cibulskis, K, Giannikopoulos, P, Kiezun, A, Kim, J, McKenna, A, Nickerson, E, Getz, G, Hoffher, S, Messinger, Y H, Dehner, L P, Roberts, C W M, Rodriguez-Galindo, C, Williams, G M, Rossi, C T, Meyerson, M, Hill, D A
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group 2014
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4224628/
https://www.ncbi.nlm.nih.gov/pubmed/24909177
http://dx.doi.org/10.1038/onc.2014.150