Whole-Genome Sequencing of Retinoblastoma Reveals the Diversity of Rearrangements Disrupting RB1 and Uncovers a Treatment-Related Mutational Signature

SIMPLE SUMMARY: Retinoblastoma, a childhood cancer of the eye, is thought to be caused by inactivating mutations of both copies of the RB1 gene. The majority of RB1 mutations can be detected by clinical screening. However, retinoblastoma cases exist where mutations in RB1 have not been detected. We...

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Detalles Bibliográficos
Autores principales: Davies, Helen R., Broad, Kevin D., Onadim, Zerrin, Price, Elizabeth A., Zou, Xueqing, Sheriff, Ibrahim, Karaa, Esin Kotiloğlu, Scheimberg, Irene, Reddy, M. Ashwin, Sagoo, Mandeep S., Ohnuma, Shin-ichi, Nik-Zainal, Serena
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2021
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7918943/
https://www.ncbi.nlm.nih.gov/pubmed/33670346
http://dx.doi.org/10.3390/cancers13040754

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