{"database":"biostudies-literature","file_versions":[],"scores":null,"additional":{"omics_type":["Unknown"],"volume":["5(1)"],"submitter":["Richardson TE"],"pubmed_abstract":["<h4>Background</h4>Mutations in mismatch repair (MMR) genes (<i>MSH2</i>, <i>MSH6</i>, <i>MLH1</i>, and <i>PMS2)</i> are associated with microsatellite instability and a hypermutator phenotype in numerous systemic cancers, and germline MMR mutations have been implicated in multi-organ tumor syndromes. In gliomas, MMR mutations can function as an adaptive response to alkylating chemotherapy, although there are well-documented cases of germline and sporadic mutations, with detrimental effects on patient survival.<h4>Methods</h4>The clinical, pathologic, and molecular features of 18 IDH-mutant astrocytomas and 20 IDH-wild-type glioblastomas with MMR mutations in the primary tumor were analyzed in comparison to 361 IDH-mutant and 906 IDH-wild-type tumors without MMR mutations. In addition, 12 "],"journal":["Neuro-oncology advances"],"pagination":["vdad085"],"full_dataset_link":["https://www.ebi.ac.uk/biostudies/studies/S-EPMC10406418"],"repository":["biostudies-literature"],"pubmed_title":["Mismatch repair protein mutations in isocitrate dehydrogenase (IDH)-mutant astrocytoma and IDH-wild-type glioblastoma."],"pmcid":["PMC10406418"],"pubmed_authors":["Snuderl M","Walker JM","Tsankova NM","Yokoda RT","Rashidipour O","Umphlett M","Abdullah KG","McBrayer SK","Vij M","Richardson TE","Hatanpaa KJ","Brem S"],"additional_accession":[]},"is_claimable":false,"name":"Mismatch repair protein mutations in isocitrate dehydrogenase (IDH)-mutant astrocytoma and IDH-wild-type glioblastoma.","description":"<h4>Background</h4>Mutations in mismatch repair (MMR) genes (<i>MSH2</i>, <i>MSH6</i>, <i>MLH1</i>, and <i>PMS2)</i> are associated with microsatellite instability and a hypermutator phenotype in numerous systemic cancers, and germline MMR mutations have been implicated in multi-organ tumor syndromes. In gliomas, MMR mutations can function as an adaptive response to alkylating chemotherapy, although there are well-documented cases of germline and sporadic mutations, with detrimental effects on patient survival.<h4>Methods</h4>The clinical, pathologic, and molecular features of 18 IDH-mutant astrocytomas and 20 IDH-wild-type glioblastomas with MMR mutations in the primary tumor were analyzed in comparison to 361 IDH-mutant and 906 IDH-wild-type tumors without MMR mutations. In addition, 12 ","dates":{"release":"2023-01-01T00:00:00Z","publication":"2023 Jan-Dec","modification":"2025-05-29T20:49:15.662Z","creation":"2025-05-29T20:49:15.662Z"},"accession":"S-EPMC10406418","cross_references":{"pubmed":["37554222"],"doi":["10.1093/noajnl/vdad085"]}}