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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...
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 |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Oxford University Press
2022
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9165006/ http://dx.doi.org/10.1093/neuonc/noac079.416 |
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