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

doi:10.1038/s41467-018-04322-5

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Article

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

Nature communications - 14 May 2018

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

Abstract excerpt

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 inactivation in the tumor. We identify additional tumors in The Cancer Genome Atlas (TCGA) cohorts with similar hypermutator...

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Identifiers

PMID: 29760383
DOI: 10.1038/s41467-018-04322-5
PMCID: PMC5951831

Genes

MBD4

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