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...

ver descrição completa

Na minha lista:
Detalhes bibliográficos
Publicado no:Acta Neuropathol
Main Authors: 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.
Formato: Artigo
Idioma:Inglês
Publicado em: 2014
Assuntos:
Article
Acesso em linha: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
Tags: Adicionar Tag
Sem tags, seja o primeiro a adicionar uma tag!

Registos relacionados