{"database":"biostudies-literature","file_versions":[],"scores":null,"additional":{"omics_type":["Unknown"],"submitter":["Edwards AD"],"funding":["NIDDK NIH HHS"],"pubmed_abstract":["Although mutations in genes encoding histones display a similar prevalence to that of some other somatic mutations in cancer, the underlying mechanisms by which histone mutations drive tumorigenesis have not been fully explored. Herein, we curated missense mutations occurring in core histone genes in breast cancers using data from MSK-IMPACT and cBioPortal to identify high frequency breast cancer-associated histone gene mutations. We characterized 17 high frequency oncohistone mutations in H2A H2B, and H3 that are enriched in breast cancer samples and occurred at glutamate (E), aspartate (D), serine (S), and arginine (R) residues. Many of these mutants co-occur with <i>PIK3CA</i> mutations in breast cancer samples. The oncohistone mutants were expressed in MCF-7 breast cancer cells or MCF-"],"journal":["bioRxiv : the preprint server for biology"],"pagination":["2025.04.29.651098"],"full_dataset_link":["https://www.ebi.ac.uk/biostudies/studies/S-EPMC12247979"],"repository":["biostudies-literature"],"pubmed_title":["Phenotypic and Functional Characterization of Oncohistone Mutations in Breast Cancers."],"pmcid":["PMC12247979"],"funding_grant_id":["R01 DK069710"],"pubmed_authors":["Thornton M","Kittler R","Huang D","Camacho CV","Edwards AD","Kraus WL","Nandu T","Singh S","Dai Y"],"additional_accession":[]},"is_claimable":false,"name":"Phenotypic and Functional Characterization of Oncohistone Mutations in Breast Cancers.","description":"Although mutations in genes encoding histones display a similar prevalence to that of some other somatic mutations in cancer, the underlying mechanisms by which histone mutations drive tumorigenesis have not been fully explored. Herein, we curated missense mutations occurring in core histone genes in breast cancers using data from MSK-IMPACT and cBioPortal to identify high frequency breast cancer-associated histone gene mutations. We characterized 17 high frequency oncohistone mutations in H2A H2B, and H3 that are enriched in breast cancer samples and occurred at glutamate (E), aspartate (D), serine (S), and arginine (R) residues. Many of these mutants co-occur with <i>PIK3CA</i> mutations in breast cancer samples. The oncohistone mutants were expressed in MCF-7 breast cancer cells or MCF-","dates":{"release":"2025-01-01T00:00:00Z","publication":"2025 May","modification":"2025-08-27T03:07:10.377Z","creation":"2025-08-27T03:07:10.377Z"},"accession":"S-EPMC12247979","cross_references":{"pubmed":["40654790"],"doi":["10.1101/2025.04.29.651098"]}}