Germ-line and somatic DICER1 mutations in pineoblastoma

Germ-line RB-1 mutations predispose to pineoblastoma (PinB), but other predisposing genetic factors are not well established. We recently identifed a germ-line DICER1 mutation in a child with a PinB. This was accompanied by loss of heterozygosity (LOH) of the wild-type allele within the tumour. We s...

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Publicat a:Acta Neuropathol
Autors principals: de Kock, Leanne, Sabbaghian, Nelly, Druker, Harriet, Weber, Evan, Hamel, Nancy, Miller, Suzanne, Choong, Catherine S., Gottardo, Nicholas G., Kees, Ursula R., Rednam, Surya P., van Hest, Liselotte P., Jongmans, Marjolijn C., Jhangiani, Shalini, Lupski, James R., Zacharin, Margaret, Bouron-Dal Soglio, Dorothée, Huang, Annie, Priest, John R., Perry, Arie, Mueller, Sabine, Albrecht, Steffen, Malkin, David, Grundy, Richard G., Foulkes, William D.
Format: Artigo
Idioma:Inglês
Publicat: 2014
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Article
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC4381868/
https://ncbi.nlm.nih.gov/pubmed/25022261
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1007/s00401-014-1318-7
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