Vassiliou Group | Haematological cancer genetics

Vassiliou Group | Haematological cancer genetics

Vassiliou Group

vassiliou_faculty_13.jpgSanger Institute, Genome Research Limited

Our Research and Approach

The Haematological Cancer Genetics team, led by George Vassiliou, studies the genes and genetic pathways involved in the development of blood cancers, with a particular emphasis on Acute Myeloid Leukaemia and related malignancies. The ultimate goal of the team is to help develop treatments that can improve the survival and quality of life of cancer sufferers.

  • Identification of genetic vulnerabilities in acute myeloid leukaemia


Professor George S Vassiliou, FRCPath, MRCP, PhD
Group Leader

George Vassiliou is a Cancer Research UK Senior Fellow and an Honorary Consultant Haematologist at Cambridge University Hospitals. He heads the Haematological Cancer Genetics Group at the Sanger Institute and is member of Faculty at the Cambridge Stem Cell Institute. His team studies blood cancers with a particular focus on myeloid leukaemias their pathogenesis, clonal evolution and the development of new anti-leukaemia treatments. Additionally, they develop and apply novel molecular methodologies for the diagnosis, classification and treatment of haematological cancers.

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  • Dissecting the early steps of MLL induced leukaemogenic transformation using a mouse model of AML.

    Basilico S, Wang X, Kennedy A, Tzelepis K, Giotopoulos G et al.

    Nature communications 2020;11;1;1407

  • Mouse Models of Myeloid Malignancies.

    Basheer F and Vassiliou G

    Cold Spring Harbor perspectives in medicine 2020

  • Analysis pipelines for cancer genome sequencing in mice.

    Lange S, Engleitner T, Mueller S, Maresch R, Zwiebel M et al.

    Nature protocols 2020;15;2;266-315

  • Therapeutic targeting of preleukemia cells in a mouse model of NPM1 mutant acute myeloid leukemia.

    Uckelmann HJ, Kim SM, Wong EM, Hatton C, Giovinazzo H et al.

    Science (New York, N.Y.) 2020;367;6477;586-590

  • Concordance for clonal hematopoiesis is limited in elderly twins.

    Fabre MA, McKerrell T, Zwiebel M, Vijayabaskar MS, Park N et al.

    Blood 2020;135;4;269-273

  • Vitamin D Receptor Controls Cell Stemness in Acute Myeloid Leukemia and in Normal Bone Marrow.

    Paubelle E, Zylbersztejn F, Maciel TT, Carvalho C, Mupo A et al.

    Cell reports 2020;30;3;739-754.e4

  • HBO1 is required for the maintenance of leukaemia stem cells.

    MacPherson L, Anokye J, Yeung MM, Lam EYN, Chan YC et al.

    Nature 2020;577;7789;266-270

  • The long non-coding RNA HOXB-AS3 regulates ribosomal RNA transcription in NPM1-mutated acute myeloid leukemia.

    Papaioannou D, Petri A, Dovey OM, Terreri S, Wang E et al.

    Nature communications 2019;10;1;5351

  • RNAmut: robust identification of somatic mutations in acute myeloid leukemia using RNA-seq.

    Gu M, Zwiebel M, Ong SH, Boughton N, Nomdedeu J et al.

    Haematologica 2019

  • Genetic modification of primary human B cells to model high-grade lymphoma.

    Caeser R, Di Re M, Krupka JA, Gao J, Lara-Chica M et al.

    Nature communications 2019;10;1;4543

  • NPM1c alters FLT3-D835Y localization and signaling in acute myeloid leukemia.

    Rudorf A, Müller TA, Klingeberg C, Kreutmair S, Poggio T et al.

    Blood 2019;134;4;383-388

  • SOCS2 is part of a highly prognostic 4-gene signature in AML and promotes disease aggressiveness.

    Nguyen CH, Glüxam T, Schlerka A, Bauer K, Grandits AM et al.

    Scientific reports 2019;9;1;9139

  • The Genomic and Immune Landscapes of Lethal Metastatic Breast Cancer.

    De Mattos-Arruda L, Sammut SJ, Ross EM, Bashford-Rogers R, Greenstein E et al.

    Cell reports 2019;27;9;2690-2708.e10

  • Contrasting requirements during disease evolution identify EZH2 as a therapeutic target in AML.

    Basheer F, Giotopoulos G, Meduri E, Yun H, Mazan M et al.

    The Journal of experimental medicine 2019;216;4;966-981

  • TET2 binding to enhancers facilitates transcription factor recruitment in hematopoietic cells.

    Rasmussen KD, Berest I, Keβler S, Nishimura K, Simón-Carrasco L et al.

    Genome research 2019;29;4;564-575

  • PiggyBac transposon tools for recessive screening identify B-cell lymphoma drivers in mice.

    Weber J, de la Rosa J, Grove CS, Schick M, Rad L et al.

    Nature communications 2019;10;1;1415

  • Genome-scale drop-out screens to identify cancer cell vulnerabilities in AML.

    Basheer FT and Vassiliou GS

    Current opinion in genetics & development 2019;54;83-87

  • Recurrent histone mutations in T-cell acute lymphoblastic leukaemia.

    Collord G, Martincorena I, Young MD, Foroni L, Bolli N et al.

    British journal of haematology 2019;184;4;676-679

  • Targeting MEK in vemurafenib-resistant hairy cell leukemia.

    Caeser R, Collord G, Yao WQ, Chen Z, Vassiliou GS et al.

    Leukemia 2019;33;2;541-545

  • Promoter-bound METTL3 maintains myeloid leukaemia by m6A-dependent translation control.

    Barbieri I, Tzelepis K, Pandolfini L, Shi J, Millán-Zambrano G et al.

    Nature 2017;552;7683;126-131

  • Molecular synergy underlies the co-occurrence patterns and phenotype of NPM1-mutant acute myeloid leukemia.

    Dovey OM, Cooper JL, Mupo A, Grove CS, Lynn C et al.

    Blood 2017;130;17;1911-1922

  • Preventing chemotherapy-induced myelosuppression by repurposing the FLT3 inhibitor quizartinib.

    Taylor SJ, Duyvestyn JM, Dagger SA, Dishington EJ, Rinaldi CA et al.

    Science translational medicine 2017;9;402

  • Therapeutics: Click and discover.

    Vassiliou GS and Balasubramanian S

    Nature 2017;548;7666;162-164

  • JAK2 V617F hematopoietic clones are present several years prior to MPN diagnosis and follow different expansion kinetics.

    McKerrell T, Park N, Chi J, Collord G, Moreno T et al.

    Blood advances 2017;1;14;968-971

  • Enhancing the genome editing toolbox: genome wide CRISPR arrayed libraries.

    Metzakopian E, Strong A, Iyer V, Hodgkins A, Tzelepis K et al.

    Scientific reports 2017;7;1;2244

  • A single-copy Sleeping Beauty transposon mutagenesis screen identifies new PTEN-cooperating tumor suppressor genes.

    de la Rosa J, Weber J, Friedrich MJ, Li Y, Rad L et al.

    Nature genetics 2017;49;5;730-741

  • Hemopoietic-specific Sf3b1-K700E knock-in mice display the splicing defect seen in human MDS but develop anemia without ring sideroblasts.

    Mupo A, Seiler M, Sathiaseelan V, Pance A, Yang Y et al.

    Leukemia 2017;31;3;720-727

  • Dynamic variation of CD5 surface expression levels within individual chronic lymphocytic leukemia clones.

    Bashford-Rogers RJ, Palser AL, Hodkinson C, Baxter J, Follows GA et al.

    Experimental hematology 2017;46;31-37.e10

  • Genome-wide transposon screening and quantitative insertion site sequencing for cancer gene discovery in mice.

    Friedrich MJ, Rad L, Bronner IF, Strong A, Wang W et al.

    Nature protocols 2017;12;2;289-309

  • Design and Application of Multiplex PCR Seq for the Detection of Somatic Mutations Associated with Myeloid Malignancies.

    Park N and Vassiliou G

    Methods in molecular biology (Clifton, N.J.) 2017;1633;87-99

  • Eye on the B-ALL: B-cell receptor repertoires reveal persistence of numerous B-lymphoblastic leukemia subclones from diagnosis to relapse.

    Bashford-Rogers RJ, Nicolaou KA, Bartram J, Goulden NJ, Loizou L et al.

    Leukemia 2016;30;12;2312-2321

  • A CRISPR Dropout Screen Identifies Genetic Vulnerabilities and Therapeutic Targets in Acute Myeloid Leukemia.

    Tzelepis K, Koike-Yusa H, De Braekeleer E, Li Y, Metzakopian E et al.

    Cell reports 2016;17;4;1193-1205

  • Promiscuous targeting of bromodomains by bromosporine identifies BET proteins as master regulators of primary transcription response in leukemia.

    Picaud S, Leonards K, Lambert JP, Dovey O, Wells C et al.

    Science advances 2016;2;10;e1600760

  • Targeting Chromatin Regulators Inhibits Leukemogenic Gene Expression in NPM1 Mutant Leukemia.

    Kühn MW, Song E, Feng Z, Sinha A, Chen CW et al.

    Cancer discovery 2016;6;10;1166-1181

  • JAK2 V617F clonal disorders: fate or chance?

    Vassiliou GS

    Blood 2016;128;8;1032-3

  • Identification of a germline F692L drug resistance variant in cis with Flt3-internal tandem duplication in knock-in mice.

    Dovey OM, Chen B, Mupo A, Friedrich M, Grove CS et al.

    Haematologica 2016;101;8;e328-31

  • Development and validation of a comprehensive genomic diagnostic tool for myeloid malignancies.

    McKerrell T, Moreno T, Ponstingl H, Bolli N, Dias JM et al.

    Blood 2016;128;1;e1-9

  • Infection Susceptibility in Gastric Intrinsic Factor (Vitamin B12)-Defective Mice Is Subject to Maternal Influences.

    Mottram L, Speak AO, Selek RM, Cambridge EL, McIntyre Z et al.

    mBio 2016;7;3

  • Rapid parallel acquisition of somatic mutations after NPM1 in acute myeloid leukaemia evolution.

    Grove CS, Bolli N, Manes N, Varela I, Van't Veer M et al.

    British journal of haematology 2016

  • Multiplexed pancreatic genome engineering and cancer induction by transfection-based CRISPR/Cas9 delivery in mice.

    Maresch R, Mueller S, Veltkamp C, Öllinger R, Friedrich M et al.

    Nature communications 2016;7;10770

  • CRISPR/Cas9 somatic multiplex-mutagenesis for high-throughput functional cancer genomics in mice.

    Weber J, Öllinger R, Friedrich M, Ehmer U, Barenboim M et al.

    Proceedings of the National Academy of Sciences of the United States of America 2015;112;45;13982-7

  • Aging as a driver of leukemogenesis.

    McKerrell T and Vassiliou GS

    Science translational medicine 2015;7;306;306fs38

  • KLF2 mutation is the most frequent somatic change in splenic marginal zone lymphoma and identifies a subset with distinct genotype.

    Clipson A, Wang M, de Leval L, Ashton-Key M, Wotherspoon A et al.

    Leukemia 2015;29;5;1177-85

  • Gene expression changes in HLA mismatched mixed lymphocyte cultures reveal genes associated with allorecognition.

    Nicolaidou V, Stylianou C, Koumas L, Vassiliou GS, Bodman-Smith KB and Costeas P

    Tissue antigens 2015;85;4;267-77

  • Leukemia-associated somatic mutations drive distinct patterns of age-related clonal hemopoiesis.

    McKerrell T, Park N, Moreno T, Grove CS, Ponstingl H et al.

    Cell reports 2015;10;8;1239-45

  • Calreticulin mutations in myeloproliferative neoplasms and new methodology for their detection and monitoring.

    Chi J, Manoloukos M, Pierides C, Nicolaidou V, Nicolaou K et al.

    Annals of hematology 2015;94;3;399-408

  • Effect of mutation order on myeloproliferative neoplasms.

    Ortmann CA, Kent DG, Nangalia J, Silber Y, Wedge DC et al.

    The New England journal of medicine 2015;372;7;601-612

  • Characterization of gene mutations and copy number changes in acute myeloid leukemia using a rapid target enrichment protocol.

    Bolli N, Manes N, McKerrell T, Chi J, Park N et al.

    Haematologica 2015;100;2;214-22

  • Mouse models of NPM1-mutated acute myeloid leukemia: biological and clinical implications.

    Sportoletti P, Varasano E, Rossi R, Mupo A, Tiacci E et al.

    Leukemia 2015;29;2;269-78

  • A conditional piggyBac transposition system for genetic screening in mice identifies oncogenic networks in pancreatic cancer.

    Rad R, Rad L, Wang W, Strong A, Ponstingl H et al.

    Nature genetics 2014;47;1;47-56

  • Origins and functional consequences of somatic mitochondrial DNA mutations in human cancer.

    Ju YS, Alexandrov LB, Gerstung M, Martincorena I, Nik-Zainal S et al.

    eLife 2014;3

  • Capturing needles in haystacks: a comparison of B-cell receptor sequencing methods.

    Bashford-Rogers RJ, Palser AL, Idris SF, Carter L, Epstein M et al.

    BMC immunology 2014;15;29

  • Acute myeloid leukaemia: a paradigm for the clonal evolution of cancer?

    Grove CS and Vassiliou GS

    Disease models & mechanisms 2014;7;8;941-51

  • Vitamin B₁₂-dependent taurine synthesis regulates growth and bone mass.

    Roman-Garcia P, Quiros-Gonzalez I, Mottram L, Lieben L, Sharan K et al.

    The Journal of clinical investigation 2014;124;7;2988-3002

  • Calreticulin gene exon 9 frameshift mutations in patients with thrombocytosis.

    Chi J, Nicolaou KA, Nicolaidou V, Koumas L, Mitsidou A et al.

    Leukemia 2014;28;5;1152-4

  • Recurrent mutations, including NPM1c, activate a BRD4-dependent core transcriptional program in acute myeloid leukemia.

    Dawson MA, Gudgin EJ, Horton SJ, Giotopoulos G, Meduri E et al.

    Leukemia 2014;28;2;311-20

  • Network properties derived from deep sequencing of human B-cell receptor repertoires delineate B-cell populations.

    Bashford-Rogers RJ, Palser AL, Huntly BJ, Rance R, Vassiliou GS et al.

    Genome research 2013;23;11;1874-84

  • A powerful molecular synergy between mutant Nucleophosmin and Flt3-ITD drives acute myeloid leukemia in mice.

    Mupo A, Celani L, Dovey O, Cooper JL, Grove C et al.

    Leukemia 2013;27;9;1917-20

  • Detailed molecular characterisation of acute myeloid leukaemia with a normal karyotype using targeted DNA capture.

    Conte N, Varela I, Grove C, Manes N, Yusa K et al.

    Leukemia 2013;27;9;1820-5

  • A genetic progression model of Braf(V600E)-induced intestinal tumorigenesis reveals targets for therapeutic intervention.

    Rad R, Cadiñanos J, Rad L, Varela I, Strong A et al.

    Cancer cell 2013;24;1;15-29

  • Activity of a heptad of transcription factors is associated with stem cell programs and clinical outcome in acute myeloid leukemia.

    Diffner E, Beck D, Gudgin E, Thoms JA, Knezevic K et al.

    Blood 2013;121;12;2289-300

  • The role of high-throughput technologies in clinical cancer genomics.

    Idris SF, Ahmad SS, Scott MA, Vassiliou GS and Hadfield J

    Expert review of molecular diagnostics 2013;13;2;167-81

  • Histone deacetylase 1 and 2 are essential for normal T-cell development and genomic stability in mice.

    Dovey OM, Foster CT, Conte N, Edwards SA, Edwards JM et al.

    Blood 2013;121;8;1335-44

  • Detection of cytoplasmic nucleophosmin expression by imaging flow cytometry.

    Grimwade L, Gudgin E, Bloxham D, Bottley G, Vassiliou G et al.

    Cytometry. Part A : the journal of the International Society for Analytical Cytology 2012;81;10;896-900

  • Mutant nucleophosmin and cooperating pathways drive leukemia initiation and progression in mice.

    Vassiliou GS, Cooper JL, Rad R, Li J, Rice S et al.

    Nature genetics 2011;43;5;470-5

  • New approaches for modelling sporadic genetic disease in the mouse.

    Fisher EM, Lana-Elola E, Watson SD, Vassiliou G and Tybulewicz VL

    Disease models & mechanisms 2009;2;9-10;446-53

  • An acquired translocation in JAK2 Val617Phe-negative essential thrombocythemia associated with autosomal spread of X-inactivation.

    Vassiliou GS, Campbell PJ, Li J, Roberts I, Swanton S et al.

    Haematologica 2006;91;8;1100-4

  • Definition of subtypes of essential thrombocythaemia and relation to polycythaemia vera based on JAK2 V617F mutation status: a prospective study.

    Campbell PJ, Scott LM, Buck G, Wheatley K, East CL et al.

    Lancet (London, England) 2005;366;9501;1945-53

  • L3mbtl, the mouse orthologue of the imprinted L3MBTL, displays a complex pattern of alternative splicing and escapes genomic imprinting.

    Li J, Bench AJ, Piltz S, Vassiliou G, Baxter EJ et al.

    Genomics 2005;86;4;489-94

  • Acquired mutation of the tyrosine kinase JAK2 in human myeloproliferative disorders.

    Baxter EJ, Scott LM, Campbell PJ, East C, Fourouclas N et al.

    Lancet (London, England) 2005;365;9464;1054-61

  • Imprinting of the human L3MBTL gene, a polycomb family member located in a region of chromosome 20 deleted in human myeloid malignancies.

    Li J, Bench AJ, Vassiliou GS, Fourouclas N, Ferguson-Smith AC and Green AR

    Proceedings of the National Academy of Sciences of the United States of America 2004;101;19;7341-6