Cancer Genome Project | Cancer Genetics & Genomics

Cancer Genome Project | Cancer Genetics & Genomics

Cancer Genome Project

cgp.jpgSanger Institute, Genome Research Limited

Our Research and Approach

Cancer is caused by the genetic changes acquired by our cells as we go through life. We use cutting-edge DNA sequencing methods to identify these genetic changes, known as mutations, from human cancer samples. Our aim is to discover the genes that are frequently mutated in tumours, since these provide important insights into the biology of cancer. We also study the patterns of mutations we see in cancer cells. These patterns represent a record of the cancer's life history, and can illustrate the damaging factors the genome has been exposed to as the cancer has evolved from a normal cell.

People

Campbell, Peter
Peter Campbell
Group Leader

Peter Campbell's research programme focuses on the genetic changes our cells acquire as we go through life, and how these mutations are related to ageing, cancer and other disease processes.

Stratton, Mike
Professor Sir Mike Stratton, FMedSci FRS
Group Leader

Mike Stratton is the Director of the Wellcome Trust Sanger Institute and Chief Executive Officer of the Wellcome Genome Campus.

His primary research interests have been in the genetics of cancer. His early research focused on inherited susceptibility. Mike mapped and identified the major high-risk breast cancer susceptibility gene BRCA2 and subsequently a series of moderate-risk breast cancer and other cancer susceptibility genes. 

Campbell, Peter

Campbell, Peter
Peter Campbell
Head of Cancer, Ageing and Somatic Mutation, and Senior Group Leader

Key Projects, Collaborations, Tools & Data

Partners and Funders

Internal Partners

Publications

  • Tumor evolution. High burden and pervasive positive selection of somatic mutations in normal human skin.

    Martincorena I, Roshan A, Gerstung M, Ellis P, Van Loo P et al.

    Science (New York, N.Y.) 2015;348;6237;880-6

  • Prospective derivation of a living organoid biobank of colorectal cancer patients.

    van de Wetering M, Francies HE, Francis JM, Bounova G, Iorio F et al.

    Cell 2015;161;4;933-45

  • Mobile DNA in cancer. Extensive transduction of nonrepetitive DNA mediated by L1 retrotransposition in cancer genomes.

    Tubio JM, Li Y, Ju YS, Martincorena I, Cooke SL et al.

    Science (New York, N.Y.) 2014;345;6196;1251343

  • Genome sequencing of normal cells reveals developmental lineages and mutational processes.

    Behjati S, Huch M, van Boxtel R, Karthaus W, Wedge DC et al.

    Nature 2014;513;7518;422-5

  • Signatures of mutational processes in human cancer.

    Alexandrov LB, Nik-Zainal S, Wedge DC, Aparicio SA, Behjati S et al.

    Nature 2013;500;7463;415-21

  • The landscape of cancer genes and mutational processes in breast cancer.

    Stephens PJ, Tarpey PS, Davies H, Van Loo P, Greenman C et al.

    Nature 2012;486;7403;400-4

  • Mutational processes molding the genomes of 21 breast cancers.

    Nik-Zainal S, Alexandrov LB, Wedge DC, Van Loo P, Greenman CD et al.

    Cell 2012;149;5;979-93

  • The life history of 21 breast cancers.

    Nik-Zainal S, Van Loo P, Wedge DC, Alexandrov LB, Greenman CD et al.

    Cell 2012;149;5;994-1007

  • Systematic identification of genomic markers of drug sensitivity in cancer cells.

    Garnett MJ, Edelman EJ, Heidorn SJ, Greenman CD, Dastur A et al.

    Nature 2012;483;7391;570-5

  • Genome sequencing and analysis of the Tasmanian devil and its transmissible cancer.

    Murchison EP, Schulz-Trieglaff OB, Ning Z, Alexandrov LB, Bauer MJ et al.

    Cell 2012;148;4;780-91

  • Somatic SF3B1 mutation in myelodysplasia with ring sideroblasts.

    Papaemmanuil E, Cazzola M, Boultwood J, Malcovati L, Vyas P et al.

    The New England journal of medicine 2011;365;15;1384-95

  • Massive genomic rearrangement acquired in a single catastrophic event during cancer development.

    Stephens PJ, Greenman CD, Fu B, Yang F, Bignell GR et al.

    Cell 2011;144;1;27-40

  • The patterns and dynamics of genomic instability in metastatic pancreatic cancer.

    Campbell PJ, Yachida S, Mudie LJ, Stephens PJ, Pleasance ED et al.

    Nature 2010;467;7319;1109-13

  • Signatures of mutation and selection in the cancer genome.

    Bignell GR, Greenman CD, Davies H, Butler AP, Edkins S et al.

    Nature 2010;463;7283;893-8

  • Complex landscapes of somatic rearrangement in human breast cancer genomes.

    Stephens PJ, McBride DJ, Lin ML, Varela I, Pleasance ED et al.

    Nature 2009;462;7276;1005-10

  • A comprehensive catalogue of somatic mutations from a human cancer genome.

    Pleasance ED, Cheetham RK, Stephens PJ, McBride DJ, Humphray SJ et al.

    Nature 2010;463;7278;191-6

  • A small-cell lung cancer genome with complex signatures of tobacco exposure.

    Pleasance ED, Stephens PJ, O'Meara S, McBride DJ, Meynert A et al.

    Nature 2010;463;7278;184-90

  • A Road Map for Precision Cancer Medicine Using Personalized Models.

    Picco G and Garnett MJ

    Cancer discovery 2017;7;5;456-458

  • Molecular diagnoses of century-old childhood tumours.

    Virasami A, Farndon SJ, McDermott U, Sebire N and Behjati S

    The Lancet. Oncology 2017;18;5;e237

  • Drug resistance mechanisms in colorectal cancer dissected with cell type-specific dynamic logic models.

    Eduati F, Doldàn-Martelli V, Klinger B, Cokelaer T, Sieber A et al.

    Cancer research 2017

  • Genome-wide chemical mutagenesis screens allow unbiased saturation of the cancer genome and identification of drug resistance mutations.

    Brammeld JS, Petljak M, Martincorena I, Williams SP, Alonso LG et al.

    Genome research 2017;27;4;613-625

  • Somatic mutations reveal asymmetric cellular dynamics in the early human embryo.

    Ju YS, Martincorena I, Gerstung M, Petljak M, Alexandrov LB et al.

    Nature 2017;543;7647;714-718

  • A somatic-mutational process recurrently duplicates germline susceptibility loci and tissue-specific super-enhancers in breast cancers.

    Glodzik D, Morganella S, Davies H, Simpson PT, Li Y et al.

    Nature genetics 2017;49;3;341-348

  • Revisiting olfactory receptors as putative drivers of cancer.

    Ranzani M, Iyer V, Ibarra-Soria X, Del Castillo Velasco-Herrera M, Garnett M et al.

    Wellcome open research 2017;2;9

  • COSMIC: somatic cancer genetics at high-resolution.

    Forbes SA, Beare D, Boutselakis H, Bamford S, Bindal N et al.

    Nucleic acids research 2017;45;D1;D777-D783

  • ascatNgs: Identifying Somatically Acquired Copy-Number Alterations from Whole-Genome Sequencing Data.

    Raine KM, Van Loo P, Wedge DC, Jones D, Menzies A et al.

    Current protocols in bioinformatics 2016;56;15.9.1-15.9.17

  • Logic models to predict continuous outputs based on binary inputs with an application to personalized cancer therapy.

    Knijnenburg TA, Klau GW, Iorio F, Garnett MJ, McDermott U et al.

    Scientific reports 2016;6;36812

  • Mutational signatures associated with tobacco smoking in human cancer.

    Alexandrov LB, Ju YS, Haase K, Van Loo P, Martincorena I et al.

    Science (New York, N.Y.) 2016;354;6312;618-622

  • 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

  • A novel signalling screen demonstrates that CALR mutations activate essential MAPK signalling and facilitate megakaryocyte differentiation.

    Kollmann K, Warsch W, Gonzalez-Arias C, Nice FL, Avezov E et al.

    Leukemia 2016

  • Tissue-specific mutation accumulation in human adult stem cells during life.

    Blokzijl F, de Ligt J, Jager M, Sasselli V, Roerink S et al.

    Nature 2016;538;7624;260-264

  • A renewed model of pancreatic cancer evolution based on genomic rearrangement patterns.

    Notta F, Chan-Seng-Yue M, Lemire M, Li Y, Wilson GW et al.

    Nature 2016

  • COSMIC: High-Resolution Cancer Genetics Using the Catalogue of Somatic Mutations in Cancer.

    Forbes SA, Beare D, Bindal N, Bamford S, Ward S et al.

    Current protocols in human genetics 2016;91;10.11.1-10.11.37

  • Breast cancer genome and transcriptome integration implicates specific mutational signatures with immune cell infiltration.

    Smid M, Rodríguez-González FG, Sieuwerts AM, Salgado R, Prager-Van der Smissen WJ et al.

    Nature communications 2016;7;12910

  • Drug Sensitivity Assays of Human Cancer Organoid Cultures.

    Francies HE, Barthorpe A, McLaren-Douglas A, Barendt WJ and Garnett MJ

    Methods in molecular biology (Clifton, N.J.) 2016

  • A Biobank of Breast Cancer Explants with Preserved Intra-tumor Heterogeneity to Screen Anticancer Compounds.

    Bruna A, Rueda OM, Greenwood W, Batra AS, Callari M et al.

    Cell 2016

  • Mutational signatures of ionizing radiation in second malignancies.

    Behjati S, Gundem G, Wedge DC, Roberts ND, Tarpey PS et al.

    Nature communications 2016;7;12605

  • Genomic Classification in Acute Myeloid Leukemia.

    Papaemmanuil E, Döhner H and Campbell PJ

    The New England journal of medicine 2016;375;9;900-1

  • Direct Transcriptional Consequences of Somatic Mutation in Breast Cancer.

    Shlien A, Raine K, Fuligni F, Arnold R, Nik-Zainal S et al.

    Cell reports 2016;16;7;2032-46

  • FANCD2 limits replication stress and genome instability in cells lacking BRCA2.

    Michl J, Zimmer J, Buffa FM, McDermott U and Tarsounas M

    Nature structural & molecular biology 2016;23;8;755-7

  • A Landscape of Pharmacogenomic Interactions in Cancer.

    Iorio F, Knijnenburg TA, Vis DJ, Bignell GR, Menden MP et al.

    Cell 2016;166;3;740-54

  • A whole-genome sequence and transcriptome perspective on HER2-positive breast cancers.

    Ferrari A, Vincent-Salomon A, Pivot X, Sertier AS, Thomas E et al.

    Nature communications 2016;7;12222

  • Impact of socioeconomic status on disease phenotype, genomic landscape and outcomes in myelodysplastic syndromes.

    Mastaglio F, Bedair K, Papaemmanuil E, Groves MJ, Hyslop A et al.

    British journal of haematology 2016;174;2;227-34

  • BRAF(V600E) Kinase Domain Duplication Identified in Therapy-Refractory Melanoma Patient-Derived Xenografts.

    Kemper K, Krijgsman O, Kong X, Cornelissen-Steijger P, Shahrabi A et al.

    Cell reports 2016;16;1;263-77

  • Genomic Classification and Prognosis in Acute Myeloid Leukemia.

    Papaemmanuil E, Gerstung M, Bullinger L, Gaidzik VI, Paschka P et al.

    The New England journal of medicine 2016;374;23;2209-21

  • Landscape of somatic mutations in 560 breast cancer whole-genome sequences.

    Nik-Zainal S, Davies H, Staaf J, Ramakrishna M, Glodzik D et al.

    Nature 2016;534;7605;47-54

  • Isocitrate dehydrogenase mutations confer dasatinib hypersensitivity and SRC-dependence in intrahepatic cholangiocarcinoma.

    Saha SK, Gordan JD, Kleinstiver BP, Vu P, Najem MS et al.

    Cancer discovery 2016

  • Multilevel models improve precision and speed of IC50 estimates.

    Vis DJ, Bombardelli L, Lightfoot H, Iorio F, Garnett MJ and Wessels LF

    Pharmacogenomics 2016

  • RUNX1 mutations in acute myeloid leukemia are associated with distinct clinico-pathologic and genetic features.

    Gaidzik VI, Teleanu V, Papaemmanuil E, Weber D, Paschka P et al.

    Leukemia 2016

  • The topography of mutational processes in breast cancer genomes.

    Morganella S, Alexandrov LB, Glodzik D, Zou X, Davies H et al.

    Nature communications 2016;7;11383

  • Constrained positive selection on cancer mutations in normal skin.

    Martincorena I, Jones PH and Campbell PJ

    Proceedings of the National Academy of Sciences of the United States of America 2016;113;9;E1128-9

  • Genomic Characterization of Primary Invasive Lobular Breast Cancer.

    Desmedt C, Zoppoli G, Gundem G, Pruneri G, Larsimont D et al.

    Journal of clinical oncology : official journal of the American Society of Clinical Oncology 2016

  • Exploitation of the Apoptosis-Primed State of MYCN-Amplified Neuroblastoma to Develop a Potent and Specific Targeted Therapy Combination.

    Ham J, Costa C, Sano R, Lochmann TL, Sennott EM et al.

    Cancer cell 2016;29;2;159-72

  • Unscrambling the genomic chaos of osteosarcoma reveals extensive transcript fusion, recurrent rearrangements and frequent novel TP53 aberrations.

    Lorenz S, Barøy T, Sun J, Nome T, Vodák D et al.

    Oncotarget 2016;7;5;5273-88

  • Timing, rates and spectra of human germline mutation.

    Rahbari R, Wuster A, Lindsay SJ, Hardwick RJ, Alexandrov LB et al.

    Nature genetics 2016;48;2;126-33

  • Mutation allele burden remains unchanged in chronic myelomonocytic leukaemia responding to hypomethylating agents.

    Merlevede J, Droin N, Qin T, Meldi K, Yoshida K et al.

    Nature communications 2016;7;10767

  • cgpPindel: Identifying Somatically Acquired Insertion and Deletion Events from Paired End Sequencing.

    Raine KM, Hinton J, Butler AP, Teague JW, Davies H et al.

    Current protocols in bioinformatics 2015;52;15.7.1-12

  • Chromothripsis and Kataegis Induced by Telomere Crisis.

    Maciejowski J, Li Y, Bosco N, Campbell PJ and de Lange T

    Cell 2015;163;7;1641-54

  • VAGrENT: Variation Annotation Generator.

    Menzies A, Teague JW, Butler AP, Davies H, Tarpey P et al.

    Current protocols in bioinformatics 2015;52;15.8.1-11

  • Pharmacogenomic agreement between two cancer cell line data sets.

    Cancer Cell Line Encyclopedia Consortium and Genomics of Drug Sensitivity in Cancer Consortium

    Nature 2015;528;7580;84-7

  • Clock-like mutational processes in human somatic cells.

    Alexandrov LB, Jones PH, Wedge DC, Sale JE, Campbell PJ et al.

    Nature genetics 2015;47;12;1402-7

  • Next-generation sequencing and empowering personalised cancer medicine.

    McDermott U

    Drug discovery today 2015;20;12;1470-5

  • LIM kinase inhibitors disrupt mitotic microtubule organization and impair tumor cell proliferation.

    Mardilovich K, Baugh M, Crighton D, Kowalczyk D, Gabrielsen M et al.

    Oncotarget 2015;6;36;38469-86

  • SETD2 loss-of-function promotes renal cancer branched evolution through replication stress and impaired DNA repair.

    Kanu N, Grönroos E, Martinez P, Burrell RA, Yi Goh X et al.

    Oncogene 2015;34;46;5699-708

  • The genome as a record of environmental exposure.

    Nik-Zainal S, Kucab JE, Morganella S, Glodzik D, Alexandrov LB et al.

    Mutagenesis 2015;30;6;763-70

  • Aberrant splicing of genes involved in haemoglobin synthesis and impaired terminal erythroid maturation in SF3B1 mutated refractory anaemia with ring sideroblasts.

    Conte S, Katayama S, Vesterlund L, Karimi M, Dimitriou M et al.

    British journal of haematology 2015;171;4;478-90

  • DNMT3A mutations occur early or late in patients with myeloproliferative neoplasms and mutation order influences phenotype.

    Nangalia J, Nice FL, Wedge DC, Godfrey AL, Grinfeld J et al.

    Haematologica 2015;100;11;e438-42

  • A mutational signature in gastric cancer suggests therapeutic strategies.

    Alexandrov LB, Nik-Zainal S, Siu HC, Leung SY and Stratton MR

    Nature communications 2015;6;8683

  • Principles Governing A-to-I RNA Editing in the Breast Cancer Transcriptome.

    Fumagalli D, Gacquer D, Rothé F, Lefort A, Libert F et al.

    Cell reports 2015;13;2;277-89

  • Somatic mutation in cancer and normal cells.

    Martincorena I and Campbell PJ

    Science (New York, N.Y.) 2015;349;6255;1483-9

  • Uncovering the genomic heterogeneity of multifocal breast cancer.

    Desmedt C, Fumagalli D, Pietri E, Zoppoli G, Brown D et al.

    The Journal of pathology 2015;236;4;457-66

  • Potent organo-osmium compound shifts metabolism in epithelial ovarian cancer cells.

    Hearn JM, Romero-Canelón I, Munro AF, Fu Y, Pizarro AM et al.

    Proceedings of the National Academy of Sciences of the United States of America 2015;112;29;E3800-5

  • Data analysis: Create a cloud commons.

    Stein LD, Knoppers BM, Campbell P, Getz G and Korbel JO

    Nature 2015;523;7559;149-51

  • SF3B1 mutation identifies a distinct subset of myelodysplastic syndrome with ring sideroblasts.

    Malcovati L, Karimi M, Papaemmanuil E, Ambaglio I, Jädersten M et al.

    Blood 2015;126;2;233-41

  • Analysis of mutational signatures in exomes from B-cell lymphoma cell lines suggest APOBEC3 family members to be involved in the pathogenesis of primary effusion lymphoma.

    Wagener R, Alexandrov LB, Montesinos-Rongen M, Schlesner M, Haake A et al.

    Leukemia 2015;29;7;1612-5

  • Epigenetic activation of a cryptic TBC1D16 transcript enhances melanoma progression by targeting EGFR.

    Vizoso M, Ferreira HJ, Lopez-Serra P, Carmona FJ, Martínez-Cardús A et al.

    Nature medicine 2015;21;7;741-50

  • Subclonal diversification of primary breast cancer revealed by multiregion sequencing.

    Yates LR, Gerstung M, Knappskog S, Desmedt C, Gundem G et al.

    Nature medicine 2015;21;7;751-9

  • Frequent somatic transfer of mitochondrial DNA into the nuclear genome of human cancer cells.

    Ju YS, Tubio JM, Mifsud W, Fu B, Davies HR et al.

    Genome research 2015;25;6;814-24

  • Tumor evolution. High burden and pervasive positive selection of somatic mutations in normal human skin.

    Martincorena I, Roshan A, Gerstung M, Ellis P, Van Loo P et al.

    Science (New York, N.Y.) 2015;348;6237;880-6

  • Prospective derivation of a living organoid biobank of colorectal cancer patients.

    van de Wetering M, Francies HE, Francis JM, Bounova G, Iorio F et al.

    Cell 2015;161;4;933-45

  • Disruption of SF3B1 results in deregulated expression and splicing of key genes and pathways in myelodysplastic syndrome hematopoietic stem and progenitor cells.

    Dolatshad H, Pellagatti A, Fernandez-Mercado M, Yip BH, Malcovati L et al.

    Leukemia 2015;29;5;1092-103

  • Exome sequencing of hepatocellular carcinomas identifies new mutational signatures and potential therapeutic targets.

    Schulze K, Imbeaud S, Letouzé E, Alexandrov LB, Calderaro J et al.

    Nature genetics 2015;47;5;505-11

  • The epigenetic regulators CBP and p300 facilitate leukemogenesis and represent therapeutic targets in acute myeloid leukemia.

    Giotopoulos G, Chan WI, Horton SJ, Ruau D, Gallipoli P et al.

    Oncogene 2015

  • The evolutionary history of lethal metastatic prostate cancer.

    Gundem G, Van Loo P, Kremeyer B, Alexandrov LB, Tubio JM et al.

    Nature 2015;520;7547;353-7

  • Analysis of the genetic phylogeny of multifocal prostate cancer identifies multiple independent clonal expansions in neoplastic and morphologically normal prostate tissue.

    Cooper CS, Eeles R, Wedge DC, Van Loo P, Gundem G et al.

    Nature genetics 2015;47;4;367-72

  • Combined hereditary and somatic mutations of replication error repair genes result in rapid onset of ultra-hypermutated cancers.

    Shlien A, Campbell BB, de Borja R, Alexandrov LB, Merico D et al.

    Nature genetics 2015;47;3;257-62

  • Mutation detection in formalin-fixed prostate cancer biopsies taken at the time of diagnosis using next-generation DNA sequencing.

    Manson-Bahr D, Ball R, Gundem G, Sethia K, Mills R et al.

    Journal of clinical pathology 2015;68;3;212-7

  • Multi-stage genome-wide association study identifies new susceptibility locus for testicular germ cell tumour on chromosome 3q25.

    Litchfield K, Sultana R, Renwick A, Dudakia D, Seal S et al.

    Human molecular genetics 2015;24;4;1169-76

  • 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;601-12

  • 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

  • Recurrent ETNK1 mutations in atypical chronic myeloid leukemia.

    Gambacorti-Passerini CB, Donadoni C, Parmiani A, Pirola A, Redaelli S et al.

    Blood 2015;125;3;499-503

  • BCL11A is a triple-negative breast cancer gene with critical functions in stem and progenitor cells.

    Khaled WT, Choon Lee S, Stingl J, Chen X, Raza Ali H et al.

    Nature communications 2015;6;5987

  • A comprehensive assessment of somatic mutation detection in cancer using whole-genome sequencing.

    Alioto TS, Buchhalter I, Derdak S, Hutter B, Eldridge MD et al.

    Nature communications 2015;6;10001

  • BRAF/NRAS wild-type melanoma, NF1 status and sensitivity to trametinib.

    Ranzani M, Alifrangis C, Perna D, Dutton-Regester K, Pritchard A et al.

    Pigment cell & melanoma research 2015;28;1;117-9

  • Combinations of PARP Inhibitors with Temozolomide Drive PARP1 Trapping and Apoptosis in Ewing's Sarcoma.

    Gill SJ, Travers J, Pshenichnaya I, Kogera FA, Barthorpe S et al.

    PloS one 2015;10;10;e0140988

  • Combining gene mutation with gene expression data improves outcome prediction in myelodysplastic syndromes.

    Gerstung M, Pellagatti A, Malcovati L, Giagounidis A, Porta MG et al.

    Nature communications 2015;6;5901

  • COSMIC: exploring the world's knowledge of somatic mutations in human cancer.

    Forbes SA, Beare D, Gunasekaran P, Leung K, Bindal N et al.

    Nucleic acids research 2015;43;Database issue;D805-11

  • Genetic variation at MECOM, TERT, JAK2 and HBS1L-MYB predisposes to myeloproliferative neoplasms.

    Tapper W, Jones AV, Kralovics R, Harutyunyan AS, Zoi K et al.

    Nature communications 2015;6;6691

  • High-throughput epitope discovery reveals frequent recognition of neo-antigens by CD4+ T cells in human melanoma.

    Linnemann C, van Buuren MM, Bies L, Verdegaal EM, Schotte R et al.

    Nature medicine 2015;21;1;81-5

  • High Throughput Sequencing Analysis of the Immunoglobulin Heavy Chain Gene from Flow-Sorted B Cell Sub-Populations Define the Dynamics of Follicular Lymphoma Clonal Evolution.

    Carlotti E, Wrench D, Rosignoli G, Marzec J, Sangaralingam A et al.

    PloS one 2015;10;9;e0134833

  • Minimal morphological criteria for defining bone marrow dysplasia: a basis for clinical implementation of WHO classification of myelodysplastic syndromes.

    Della Porta MG, Travaglino E, Boveri E, Ponzoni M, Malcovati L et al.

    Leukemia 2015;29;1;66-75

  • What role could organoids play in the personalization of cancer treatment?

    Francies HE and Garnett MJ

    Pharmacogenomics 2015;16;14;1523-6

  • Nongenetic stochastic expansion of JAK2V617F-homozygous subclones in polycythemia vera?

    Godfrey AL, Nangalia J, Baxter EJ, Massie CE, Kent DG et al.

    Blood 2014;124;22;3332-4

  • The AURORA initiative for metastatic breast cancer.

    Zardavas D, Maetens M, Irrthum A, Goulioti T, Engelen K et al.

    British journal of cancer 2014;111;10;1881-7

  • Modification of British Committee for Standards in Haematology diagnostic criteria for essential thrombocythaemia.

    Harrison CN, Butt N, Campbell P, Conneally E, Drummond M et al.

    British journal of haematology 2014;167;3;421-3

  • Spatial and temporal diversity in genomic instability processes defines lung cancer evolution.

    de Bruin EC, McGranahan N, Mitter R, Salm M, Wedge DC et al.

    Science (New York, N.Y.) 2014;346;6206;251-6

  • C. elegans whole-genome sequencing reveals mutational signatures related to carcinogens and DNA repair deficiency.

    Meier B, Cooke SL, Weiss J, Bailly AP, Alexandrov LB et al.

    Genome research 2014;24;10;1624-36

  • 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

  • Genome sequencing of normal cells reveals developmental lineages and mutational processes.

    Behjati S, Huch M, van Boxtel R, Karthaus W, Wedge DC et al.

    Nature 2014;513;7518;422-5

  • Reading between the lines; understanding drug response in the post genomic era.

    Alifrangis CC and McDermott U

    Molecular oncology 2014;8;6;1112-9

  • Fast randomization of large genomic datasets while preserving alteration counts.

    Gobbi A, Iorio F, Dawson KJ, Wedge DC, Tamborero D et al.

    Bioinformatics (Oxford, England) 2014;30;17;i617-23

  • Driver somatic mutations identify distinct disease entities within myeloid neoplasms with myelodysplasia.

    Malcovati L, Papaemmanuil E, Ambaglio I, Elena C, Gallì A et al.

    Blood 2014;124;9;1513-21

  • Fibroblastic growth factor receptor 1 amplification in osteosarcoma is associated with poor response to neo-adjuvant chemotherapy.

    Fernanda Amary M, Ye H, Berisha F, Khatri B, Forbes G et al.

    Cancer medicine 2014;3;4;980-7

  • Mobile DNA in cancer. Extensive transduction of nonrepetitive DNA mediated by L1 retrotransposition in cancer genomes.

    Tubio JM, Li Y, Ju YS, Martincorena I, Cooke SL et al.

    Science (New York, N.Y.) 2014;345;6196;1251343

  • Myelodysplastic syndromes are propagated by rare and distinct human cancer stem cells in vivo.

    Woll PS, Kjällquist U, Chowdhury O, Doolittle H, Wedge DC et al.

    Cancer cell 2014;25;6;794-808

  • Association of a germline copy number polymorphism of APOBEC3A and APOBEC3B with burden of putative APOBEC-dependent mutations in breast cancer.

    Nik-Zainal S, Wedge DC, Alexandrov LB, Petljak M, Butler AP et al.

    Nature genetics 2014;46;5;487-91

  • Subclonal variant calling with multiple samples and prior knowledge.

    Gerstung M, Papaemmanuil E and Campbell PJ

    Bioinformatics (Oxford, England) 2014;30;9;1198-204

  • Processed pseudogenes acquired somatically during cancer development.

    Cooke SL, Shlien A, Marshall J, Pipinikas CP, Martincorena I et al.

    Nature communications 2014;5;3644

  • Constitutional and somatic rearrangement of chromosome 21 in acute lymphoblastic leukaemia.

    Li Y, Schwab C, Ryan SL, Papaemmanuil E, Robinson HM et al.

    Nature 2014;508;7494;98-102

  • Recurrent PTPRB and PLCG1 mutations in angiosarcoma.

    Behjati S, Tarpey PS, Sheldon H, Martincorena I, Van Loo P et al.

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