{"entity": "researcher", "timestamp": "2026-10-07T13:39:49.832Z", "family": "Blakemore", "given": "S", "initials": "S", "orcid": "0000-0003-2892-1162", "affiliations": ["Academic Unit of Cancer Sciences, Faculty of Medicine, Cancer Research UK Centre and Experimental Cancer Medicine Centre, University of Southampton, Southampton, UK."], "links": {"self": {"href": "https://publications-affiliated.scilifelab.se/researcher/d762a0dcdb6447c1b41bd10a177ae7ac.json"}, "display": {"href": "https://publications-affiliated.scilifelab.se/researcher/d762a0dcdb6447c1b41bd10a177ae7ac"}}, "publications": [{"entity": "publication", "iuid": "de6b3fbcfe9d43178c7214df8dd55cdb", "links": {"self": {"href": "https://publications-affiliated.scilifelab.se/publication/de6b3fbcfe9d43178c7214df8dd55cdb.json"}, "display": {"href": "https://publications-affiliated.scilifelab.se/publication/de6b3fbcfe9d43178c7214df8dd55cdb"}}, "title": "Genomic disruption of the histone methyltransferase SETD2 in chronic lymphocytic leukaemia.", "authors": [{"family": "Parker", "given": "H", "initials": "H"}, {"family": "Rose-Zerilli", "given": "M J J", "initials": "MJ"}, {"family": "Larrayoz", "given": "M", "initials": "M"}, {"family": "Clifford", "given": "R", "initials": "R"}, {"family": "Edelmann", "given": "J", "initials": "J"}, {"family": "Blakemore", "given": "S", "initials": "S", "orcid": "0000-0003-2892-1162", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/d762a0dcdb6447c1b41bd10a177ae7ac.json"}}, {"family": "Gibson", "given": "J", "initials": "J", "orcid": "0000-0002-0973-8285", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/d55b8bdcdd29424b811c44da0faee5d5.json"}}, {"family": "Wang", "given": "J", "initials": "J"}, {"family": "Ljungstr\u00f6m", "given": "V", "initials": "V"}, {"family": "Wojdacz", "given": "T K", "initials": "TK"}, {"family": "Chaplin", "given": "T", "initials": "T"}, {"family": "Roghanian", "given": "A", "initials": "A"}, {"family": "Davis", "given": "Z", "initials": "Z"}, {"family": "Parker", "given": "A", "initials": "A"}, {"family": "Tausch", "given": "E", "initials": "E"}, {"family": "Ntoufa", "given": "S", "initials": "S"}, {"family": "Ramos", "given": "S", "initials": "S"}, {"family": "Robbe", "given": "P", "initials": "P"}, {"family": "Alsolami", "given": "R", "initials": "R"}, {"family": "Steele", "given": "A J", "initials": "AJ"}, {"family": "Packham", "given": "G", "initials": "G"}, {"family": "Rodr\u00edguez-Vicente", "given": "A E", "initials": "AE"}, {"family": "Brown", "given": "L", "initials": "L"}, {"family": "McNicholl", "given": "F", "initials": "F"}, {"family": "Forconi", "given": "F", "initials": "F"}, {"family": "Pettitt", "given": "A", "initials": "A"}, {"family": "Hillmen", "given": "P", "initials": "P"}, {"family": "Dyer", "given": "M", "initials": "M"}, {"family": "Cragg", "given": "M S", "initials": "MS"}, {"family": "Chelala", "given": "C", "initials": "C"}, {"family": "Oakes", "given": "C C", "initials": "CC"}, {"family": "Rosenquist", "given": "R", "initials": "R"}, {"family": "Stamatopoulos", "given": "K", "initials": "K"}, {"family": "Stilgenbauer", "given": "S", "initials": "S"}, {"family": "Knight", "given": "S", "initials": "S"}, {"family": "Schuh", "given": "A", "initials": "A"}, {"family": "Oscier", "given": "D G", "initials": "DG"}, {"family": "Strefford", "given": "J C", "initials": "JC"}], "type": "journal article", "published": "2016-11-00", "journal": {"title": "Leukemia", "issn": "1476-5551", "volume": "30", "issue": "11", "pages": "2179-2186", "issn-l": "0887-6924"}, "abstract": "Histone methyltransferases (HMTs) are important epigenetic regulators of gene transcription and are disrupted at the genomic level in a spectrum of human tumours including haematological malignancies. Using high-resolution single nucleotide polymorphism (SNP) arrays, we identified recurrent deletions of the SETD2 locus in 3% (8/261) of chronic lymphocytic leukaemia (CLL) patients. Further validation in two independent cohorts showed that SETD2 deletions were associated with loss of TP53, genomic complexity and chromothripsis. With next-generation sequencing we detected mutations of SETD2 in an additional 3.8% of patients (23/602). In most cases, SETD2 deletions or mutations were often observed as a clonal event and always as a mono-allelic lesion, leading to reduced mRNA expression in SETD2-disrupted cases. Patients with SETD2 abnormalities and wild-type TP53 and ATM from five clinical trials employing chemotherapy or chemo-immunotherapy had reduced progression-free and overall survival compared with cases wild type for all three genes. Consistent with its postulated role as a tumour suppressor, our data highlight SETD2 aberration as a recurrent, early loss-of-function event in CLL pathobiology linked to aggressive disease.", "doi": "10.1038/leu.2016.134", "pmid": "27282254", "labels": [], "xrefs": [{"db": "mid", "key": "EMS68286"}, {"db": "pmc", "key": "PMC5023049"}, {"db": "pii", "key": "leu2016134"}], "notes": [], "created": "2018-12-05T09:48:16.461Z", "modified": "2026-09-23T07:49:46.289Z"}]}