Outlier response to anti-PD1 in uveal melanoma reveals germline MBD4 mutations in hypermutated tumors

Metastatic uveal melanoma is a deadly disease with no proven standard of care. Here we present a metastatic uveal melanoma patient with an exceptional high sensitivity to a PD-1 inhibitor associated with outlier CpG>TpG mutation burden, MBD4 germline deleterious mutation, and somatic MBD4 inactiv...

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Publicado en:Nat Commun
Autores principales: Rodrigues, Manuel, Mobuchon, Lenha, Houy, Alexandre, Fiévet, Alice, Gardrat, Sophie, Barnhill, Raymond L., Popova, Tatiana, Servois, Vincent, Rampanou, Aurore, Mouton, Aurore, Dayot, Stéphane, Raynal, Virginie, Galut, Michèle, Putterman, Marc, Tick, Sarah, Cassoux, Nathalie, Roman-Roman, Sergio, Bidard, François-Clément, Lantz, Olivier, Mariani, Pascale, Piperno-Neumann, Sophie, Stern, Marc-Henri
Formato: Artigo
Lenguaje:Inglês
Publicado: Nature Publishing Group UK 2018
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Article
Acceso en línea:https://ncbi.nlm.nih.gov/pmc/articles/PMC5951831/
https://ncbi.nlm.nih.gov/pubmed/29760383
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/s41467-018-04322-5
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