Biallelic loss of GNAS in a patient with pediatric medulloblastoma

Genome sequencing was performed on matched normal and tumor tissue from a 6.5-yr-old boy with a diagnosis of recurrent medulloblastoma. A pathogenic heterozygous c.432+1G>A canonical splice donor site variant in GNAS was detected on analysis of blood DNA. Analysis of tumor DNA showed the same spl...

ver descrição completa

Na minha lista:
Detalhes bibliográficos
Publicado no:Cold Spring Harb Mol Case Stud
Main Authors: Tokita, Mari J., Nahas, Shareef, Briggs, Benjamin, Malicki, Denise M., Mesirov, Jill P., Reyes, Iris Anne C., Farnaes, Lauge, Levy, Michael L., Kingsmore, Stephen F., Dimmock, David, Crawford, John R., Wechsler-Reya, Robert J.
Formato: Artigo
Idioma:Inglês
Publicado em: Cold Spring Harbor Laboratory Press 2019
Assuntos:
Rapid Cancer Communication
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC6824258/
https://ncbi.nlm.nih.gov/pubmed/31624069
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1101/mcs.a004572
Tags: Adicionar Tag
Sem tags, seja o primeiro a adicionar uma tag!

Registos relacionados