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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Udgivet i: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.
Format: Artigo
Sprog:Inglês
Udgivet: Cold Spring Harbor Laboratory Press 2018
Fag:
Research Article
Online adgang: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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