Whole-exome sequencing identifies germline mutation in TP53 and ATRX in a child with genomically aberrant AT/RT and her mother with anaplastic astrocytoma

Brain tumors typically arise sporadically and do not affect several family members simultaneously. In the present study, we describe clinical and genetic data from two patients, a mother and her daughter, with familial brain tumors. Exome sequencing revealed a germline missense mutation in the TP53...

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Detalhes bibliográficos
Publicado no:Cold Spring Harb Mol Case Stud
Main Authors: Nordfors, Kristiina, Haapasalo, Joonas, Afyounian, Ebrahim, Tuominen, Joonas, Annala, Matti, Häyrynen, Sergei, Karhu, Ritva, Helén, Pauli, Lohi, Olli, Nykter, Matti, Haapasalo, Hannu, Granberg, Kirsi J.
Formato: Artigo
Idioma:Inglês
Publicado em: Cold Spring Harbor Laboratory Press 2018
Assuntos:
Research Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC5880256/
https://ncbi.nlm.nih.gov/pubmed/29602769
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1101/mcs.a002246
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