{"database":"biostudies-literature","file_versions":[],"scores":null,"additional":{"omics_type":["Unknown"],"volume":["12(11)"],"submitter":["Wang Q"],"pubmed_abstract":["Immunotherapies have dramatically improved survival outcome for patients with melanoma. <i>MUC16</i> encodes cancer antigen 125 (CA125), which is frequently mutated in melanoma. In this study, we correlated the <i>MUC16</i> mutational status with the following: tumor mutation burden (TML), multiple immune-related signals in microenvironment, deregulated pathways, survival outcome, and immunotherapeutic efficacy. We found that patients with <i>MUC16</i> mutations had significantly higher TML than those without it. Enriched pro-inflammatory CD8 T cells and M1 macrophages, enhanced interferon gamma (IFNγ) and T cell-inflamed signatures, and increased cytolytic activity were associated with <i>MUC16</i> mutations. Immune-suppressive M2 macrophages were enriched in patients with wild-type <i>MU"],"journal":["Aging"],"pagination":["10827-10843"],"full_dataset_link":["https://www.ebi.ac.uk/biostudies/studies/S-EPMC7346065"],"repository":["biostudies-literature"],"pubmed_title":["High mutation load, immune-activated microenvironment, favorable outcome, and better immunotherapeutic efficacy in melanoma patients harboring <i>MUC16</i>/CA125 mutations."],"pmcid":["PMC7346065"],"pubmed_authors":["Li X","Yang Y","Wang Q","Chen K","Yang M"],"additional_accession":[]},"is_claimable":false,"name":"High mutation load, immune-activated microenvironment, favorable outcome, and better immunotherapeutic efficacy in melanoma patients harboring <i>MUC16</i>/CA125 mutations.","description":"Immunotherapies have dramatically improved survival outcome for patients with melanoma. <i>MUC16</i> encodes cancer antigen 125 (CA125), which is frequently mutated in melanoma. In this study, we correlated the <i>MUC16</i> mutational status with the following: tumor mutation burden (TML), multiple immune-related signals in microenvironment, deregulated pathways, survival outcome, and immunotherapeutic efficacy. We found that patients with <i>MUC16</i> mutations had significantly higher TML than those without it. Enriched pro-inflammatory CD8 T cells and M1 macrophages, enhanced interferon gamma (IFNγ) and T cell-inflamed signatures, and increased cytolytic activity were associated with <i>MUC16</i> mutations. Immune-suppressive M2 macrophages were enriched in patients with wild-type <i>MU","dates":{"release":"2020-01-01T00:00:00Z","publication":"2020 Jun","modification":"2025-04-22T19:33:43.161Z","creation":"2025-04-06T02:49:10.444Z"},"accession":"S-EPMC7346065","cross_references":{"pubmed":["32491995"],"doi":["10.18632/aging.103296"]}}