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...

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Detalles Bibliográficos
Autores principales: 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: Online Artículo Texto
Lenguaje:English
Publicado: Cold Spring Harbor Laboratory Press 2019
Materias:
Rapid Cancer Communication
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6824258/
https://www.ncbi.nlm.nih.gov/pubmed/31624069
http://dx.doi.org/10.1101/mcs.a004572

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6824258/
https://www.ncbi.nlm.nih.gov/pubmed/31624069
http://dx.doi.org/10.1101/mcs.a004572

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