Publications by authors named "Michele Galut"
Article Synopsis
- Scientists found that tumors with a lot of mutations (high TMB) respond better to a special cancer treatment called pembrolizumab.
- They created a new way to measure TMB using their own tests and compared it to another test called FoundationOne®.
- Their new method showed different results, and they think their TMB measurement can be adjusted for different types of tests and tumor samples.
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 profiles in patients carrying germline deleterious MBD4 mutations and somatic loss of heterozygosity.
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