MEDB-42. GermlineElp1 deficiency promotes genomic instability and survival of granule neuron progenitors primed for SHH medulloblastoma pathogenesis

Germline loss-of-function (LOF) mutations in Elongator complex protein 1 (ELP1) are found in 15-20% of childhood SHH medulloblastoma (MB) and are exceedingly rare in non-SHH-MB or other cancers. ELP1 germline carriers that develop SHH-MB harbor frequent somatic PTCH1 mutations and universally sustai...

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Detalles Bibliográficos
Autores principales: Garcia-Lopez *, Jesus, Ahmad *, Shiekh Tanveer, Li *, Yiran, Gudenas, Brian, Kojic, Marija, Manz, Friedrik, Jonchere, Barbara, Mayasundari, Anand, Pitre, Aaron, Hadley, Jennifer, Paul, Leena, Batts, Melissa, Bianski, Brandon, Tinkle, Christopher, Orr, Brent, Rankovic, Zoran, Robinson, Giles, Roussel, Martine, Wainwright, Brandon, Kutscher, Lena, Lin #, Hong, Northcott #, Paul
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Oxford University Press 2022
Materias:
Medulloblastoma
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9165006/
http://dx.doi.org/10.1093/neuonc/noac079.416

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9165006/
http://dx.doi.org/10.1093/neuonc/noac079.416

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