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...

Descripción completa

Detalles Bibliográficos
Autores principales: 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: Online Artículo Texto
Lenguaje:English
Publicado: Cold Spring Harbor Laboratory Press 2018
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5880256/
https://www.ncbi.nlm.nih.gov/pubmed/29602769
http://dx.doi.org/10.1101/mcs.a002246

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5880256/
https://www.ncbi.nlm.nih.gov/pubmed/29602769
http://dx.doi.org/10.1101/mcs.a002246

Ejemplares similares