Campbell, Peter
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.
My major interest is in cancer genomics, and in particular genome-wide analyses of somatic mutations in tumours. My major areas of interest have been: the discovery of new cancer genes; the identification of somatic mutation processes operative in tumours; the characterisation of patterns of cancer evolution; and the translation of these fundamental insights about cancer biology into better management of patients. I am increasingly interested in the role of somatic mutations outside of cancer. Particular focus areas include how somatic mutations delineate clonal relationships of normal cellular populations and how somatic mutations affect normal cellular behaviour.
Publications
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Classification and Personalized Prognosis in Myeloproliferative Neoplasms.
The New England journal of medicine 2018;379;15;1416-1430
PUBMED: 30304655; DOI: 10.1056/NEJMoa1716614
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Population dynamics of normal human blood inferred from somatic mutations.
Nature 2018;561;7724;473-478
PUBMED: 30185910; PMC: 6163040; DOI: 10.1038/s41586-018-0497-0
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Timing the Landmark Events in the Evolution of Clear Cell Renal Cell Cancer: TRACERx Renal.
Cell 2018;173;3;611-623.e17
PUBMED: 29656891; PMC: 5927631; DOI: 10.1016/j.cell.2018.02.020
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Universal Patterns of Selection in Cancer and Somatic Tissues.
Cell 2017;171;5;1029-1041.e21
PUBMED: 29056346; PMC: 5720395; DOI: 10.1016/j.cell.2017.09.042
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Precision oncology for acute myeloid leukemia using a knowledge bank approach.
Nature genetics 2017;49;3;332-340
PUBMED: 28092685; PMC: 5764082; DOI: 10.1038/ng.3756
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Genomic Classification and Prognosis in Acute Myeloid Leukemia.
The New England journal of medicine 2016;374;23;2209-2221
PUBMED: 27276561; PMC: 4979995; DOI: 10.1056/NEJMoa1516192
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Tumor evolution. High burden and pervasive positive selection of somatic mutations in normal human skin.
Science (New York, N.Y.) 2015;348;6237;880-6
PUBMED: 25999502; PMC: 4471149; DOI: 10.1126/science.aaa6806
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Subclonal diversification of primary breast cancer revealed by multiregion sequencing.
Nature medicine 2015;21;7;751-9
PUBMED: 26099045; PMC: 4500826; DOI: 10.1038/nm.3886
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Mobile DNA in cancer. Extensive transduction of nonrepetitive DNA mediated by L1 retrotransposition in cancer genomes.
Science (New York, N.Y.) 2014;345;6196;1251343
PUBMED: 25082706; PMC: 4380235; DOI: 10.1126/science.1251343
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Recurrent PTPRB and PLCG1 mutations in angiosarcoma.
Nature genetics 2014;46;4;376-379
PUBMED: 24633157; PMC: 4032873; DOI: 10.1038/ng.2921
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RAG-mediated recombination is the predominant driver of oncogenic rearrangement in ETV6-RUNX1 acute lymphoblastic leukemia.
Nature genetics 2014;46;2;116-25
PUBMED: 24413735; PMC: 3960636; DOI: 10.1038/ng.2874
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The life history of 21 breast cancers.
Cell 2012;149;5;994-1007
PUBMED: 22608083; PMC: 3428864; DOI: 10.1016/j.cell.2012.04.023
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Somatic SF3B1 mutation in myelodysplasia with ring sideroblasts.
The New England journal of medicine 2011;365;15;1384-95
PUBMED: 21995386; PMC: 3322589; DOI: 10.1056/NEJMoa1103283
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Massive genomic rearrangement acquired in a single catastrophic event during cancer development.
Cell 2011;144;1;27-40
PUBMED: 21215367; PMC: 3065307; DOI: 10.1016/j.cell.2010.11.055
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The patterns and dynamics of genomic instability in metastatic pancreatic cancer.
Nature 2010;467;7319;1109-13
PUBMED: 20981101; PMC: 3137369; DOI: 10.1038/nature09460
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A small-cell lung cancer genome with complex signatures of tobacco exposure.
Nature 2010;463;7278;184-90
PUBMED: 20016488; PMC: 2880489; DOI: 10.1038/nature08629
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Deciphering the genomic, epigenomic, and transcriptomic landscapes of pre-invasive lung cancer lesions.
Nature medicine 2019
PUBMED: 30664780; DOI: 10.1038/s41591-018-0323-0
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TP53 mutation status divides myelodysplastic syndromes with complex karyotypes into distinct prognostic subgroups.
Leukemia 2019
PUBMED: 30635634; DOI: 10.1038/s41375-018-0351-2
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Single cell analysis of clonal architecture in acute myeloid leukaemia.
Leukemia 2018
PUBMED: 30568172; DOI: 10.1038/s41375-018-0319-2
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Somatic mutant clones colonize the human esophagus with age.
Science (New York, N.Y.) 2018;362;6417;911-917
PUBMED: 30337457; PMC: 6298579; DOI: 10.1126/science.aau3879
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COSMIC: the Catalogue Of Somatic Mutations In Cancer.
Nucleic acids research 2018
PUBMED: 30371878; DOI: 10.1093/nar/gky1015
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Neutral tumor evolution?
Nature genetics 2018
PUBMED: 30374075; DOI: 10.1038/s41588-018-0258-x
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Integrative Molecular Characterization of Malignant Pleural Mesothelioma.
Cancer discovery 2018
PUBMED: 30322867; DOI: 10.1158/2159-8290.CD-18-0804
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Classification and Personalized Prognosis in Myeloproliferative Neoplasms.
The New England journal of medicine 2018;379;15;1416-1430
PUBMED: 30304655; DOI: 10.1056/NEJMoa1716614
-
Population dynamics of normal human blood inferred from somatic mutations.
Nature 2018;561;7724;473-478
PUBMED: 30185910; PMC: 6163040; DOI: 10.1038/s41586-018-0497-0
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Rearrangement bursts generate canonical gene fusions in bone and soft tissue tumors.
Science (New York, N.Y.) 2018;361;6405
PUBMED: 30166462; PMC: 6176908; DOI: 10.1126/science.aam8419
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Hydroxycarbamide Plus Aspirin Versus Aspirin Alone in Patients With Essential Thrombocythemia Age 40 to 59 Years Without High-Risk Features.
Journal of clinical oncology : official journal of the American Society of Clinical Oncology 2018;JCO2018788414
PUBMED: 30153096; DOI: 10.1200/JCO.2018.78.8414
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Prediction of acute myeloid leukaemia risk in healthy individuals.
Nature 2018;559;7714;400-404
PUBMED: 29988082; DOI: 10.1038/s41586-018-0317-6
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Recurrent intragenic rearrangements of EGFR and BRAF in soft tissue tumors of infants.
Nature communications 2018;9;1;2378
PUBMED: 29915264; PMC: 6006309; DOI: 10.1038/s41467-018-04650-6
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Recurrent rearrangements of FOS and FOSB define osteoblastoma.
Nature communications 2018;9;1;2150
PUBMED: 29858576; PMC: 5984627; DOI: 10.1038/s41467-018-04530-z
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Timing the Landmark Events in the Evolution of Clear Cell Renal Cell Cancer: TRACERx Renal.
Cell 2018;173;3;611-623.e17
PUBMED: 29656891; PMC: 5927631; DOI: 10.1016/j.cell.2018.02.020
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Deterministic Evolutionary Trajectories Influence Primary Tumor Growth: TRACERx Renal.
Cell 2018
PUBMED: 29656894; DOI: 10.1016/j.cell.2018.03.043
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Mutational signatures of DNA mismatch repair deficiency in C. elegans and human cancers.
Genome research 2018
PUBMED: 29636374; DOI: 10.1101/gr.226845.117
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Biological and prognostic impact of APOBEC-induced mutations in the spectrum of plasma cell dyscrasias and multiple myeloma cell lines.
Leukemia 2018;32;4;1044-1048
PUBMED: 29209044; PMC: 5886048; DOI: 10.1038/leu.2017.345
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Intra-tumour diversification in colorectal cancer at the single-cell level.
Nature 2018;556;7702;457-462
PUBMED: 29643510; DOI: 10.1038/s41586-018-0024-3
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Recurrent histone mutations in T-cell acute lymphoblastic leukaemia.
British journal of haematology 2018
PUBMED: 29602208; DOI: 10.1111/bjh.15155
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SvABA: genome-wide detection of structural variants and indels by local assembly.
Genome research 2018
PUBMED: 29535149; DOI: 10.1101/gr.221028.117
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A Distinct Class of Genome Rearrangements Driven by Heterologous Recombination.
Molecular cell 2018;69;2;292-305.e6
PUBMED: 29351848; DOI: 10.1016/j.molcel.2017.12.014
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The European Society for Medical Oncology (ESMO) Precision Medicine Glossary.
Annals of oncology : official journal of the European Society for Medical Oncology 2017
PUBMED: 29140430; DOI: 10.1093/annonc/mdx707
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Pan-cancer analysis of homozygous deletions in primary tumours uncovers rare tumour suppressors.
Nature communications 2017;8;1;1221
PUBMED: 29089486; DOI: 10.1038/s41467-017-01355-0
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The driver landscape of sporadic chordoma.
Nature communications 2017;8;1;890
PUBMED: 29026114; PMC: 5638846; DOI: 10.1038/s41467-017-01026-0
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Genomic Determinants of Protein Abundance Variation in Colorectal Cancer Cells.
Cell reports 2017;20;9;2201-2214
PUBMED: 28854368; PMC: 5583477; DOI: 10.1016/j.celrep.2017.08.010
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Cliques and Schisms of Cancer Genes.
Cancer cell 2017;32;2;129-130
PUBMED: 28810139; DOI: 10.1016/j.ccell.2017.07.009
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Genomic Evolution of Breast Cancer Metastasis and Relapse.
Cancer cell 2017;32;2;169-184.e7
PUBMED: 28810143; PMC: 5559645; DOI: 10.1016/j.ccell.2017.07.005
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Integrative Genomics Identifies the Molecular Basis of Resistance to Azacitidine Therapy in Myelodysplastic Syndromes.
Cell reports 2017;20;3;572-585
PUBMED: 28723562; DOI: 10.1016/j.celrep.2017.06.067
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Recurrent mutation of IGF signalling genes and distinct patterns of genomic rearrangement in osteosarcoma.
Nature communications 2017;8;15936
PUBMED: 28643781; PMC: 5490007; DOI: 10.1038/ncomms15936
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Somatic mutations reveal asymmetric cellular dynamics in the early human embryo.
Nature 2017;543;7647;714-718
PUBMED: 28329761; PMC: 6169740; DOI: 10.1038/nature21703
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A somatic-mutational process recurrently duplicates germline susceptibility loci and tissue-specific super-enhancers in breast cancers.
Nature genetics 2017;49;3;341-348
PUBMED: 28112740; PMC: 5988034; DOI: 10.1038/ng.3771
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Precision oncology for acute myeloid leukemia using a knowledge bank approach.
Nature genetics 2017;49;3;332-340
PUBMED: 28092685; PMC: 5764082; DOI: 10.1038/ng.3756
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COSMIC: somatic cancer genetics at high-resolution.
Nucleic acids research 2017;45;D1;D777-D783
PUBMED: 27899578; PMC: 5210583; DOI: 10.1093/nar/gkw1121
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Sources of error in measurement of minimal residual disease in childhood acute lymphoblastic leukemia.
PloS one 2017;12;10;e0185556
PUBMED: 28973007; DOI: 10.1371/journal.pone.0185556
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ascatNgs: Identifying Somatically Acquired Copy-Number Alterations from Whole-Genome Sequencing Data.
Current protocols in bioinformatics 2016;56;15.9.1-15.9.17
PUBMED: 27930809; PMC: 6097604; DOI: 10.1002/cpbi.17
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Mutational signatures associated with tobacco smoking in human cancer.
Science (New York, N.Y.) 2016;354;6312;618-622
PUBMED: 27811275; PMC: 6141049; DOI: 10.1126/science.aag0299
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A renewed model of pancreatic cancer evolution based on genomic rearrangement patterns.
Nature 2016
PUBMED: 27732578; DOI: 10.1038/nature19823
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COSMIC: High-Resolution Cancer Genetics Using the Catalogue of Somatic Mutations in Cancer.
Current protocols in human genetics 2016;91;10.11.1-10.11.37
PUBMED: 27727438; DOI: 10.1002/cphg.21
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Mutational signatures of ionizing radiation in second malignancies.
Nature communications 2016;7;12605
PUBMED: 27615322; PMC: 5027243; DOI: 10.1038/ncomms12605
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Genomic Classification in Acute Myeloid Leukemia.
The New England journal of medicine 2016;375;9;900-1
PUBMED: 27579651; DOI: 10.1056/NEJMc1608739
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Direct Transcriptional Consequences of Somatic Mutation in Breast Cancer.
Cell reports 2016;16;7;2032-46
PUBMED: 27498871; PMC: 4987284; DOI: 10.1016/j.celrep.2016.07.028
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Impact of socioeconomic status on disease phenotype, genomic landscape and outcomes in myelodysplastic syndromes.
British journal of haematology 2016;174;2;227-34
PUBMED: 27098194; DOI: 10.1111/bjh.14042
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Genomic Classification and Prognosis in Acute Myeloid Leukemia.
The New England journal of medicine 2016;374;23;2209-2221
PUBMED: 27276561; PMC: 4979995; DOI: 10.1056/NEJMoa1516192
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Landscape of somatic mutations in 560 breast cancer whole-genome sequences.
Nature 2016;534;7605;47-54
PUBMED: 27135926; PMC: 4910866; DOI: 10.1038/nature17676
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RUNX1 mutations in acute myeloid leukemia are associated with distinct clinico-pathologic and genetic features.
Leukemia 2016
PUBMED: 27137476; DOI: 10.1038/leu.2016.126
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The topography of mutational processes in breast cancer genomes.
Nature communications 2016;7;11383
PUBMED: 27136393; PMC: 5001788; DOI: 10.1038/ncomms11383
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Constrained positive selection on cancer mutations in normal skin.
Proceedings of the National Academy of Sciences of the United States of America 2016;113;9;E1128-9
PUBMED: 26884187; PMC: 4780655; DOI: 10.1073/pnas.1600910113
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Genomic Characterization of Primary Invasive Lobular Breast Cancer.
Journal of clinical oncology : official journal of the American Society of Clinical Oncology 2016
PUBMED: 26926684; DOI: 10.1200/JCO.2015.64.0334
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Unscrambling the genomic chaos of osteosarcoma reveals extensive transcript fusion, recurrent rearrangements and frequent novel TP53 aberrations.
Oncotarget 2016;7;5;5273-88
PUBMED: 26672768; DOI: 10.18632/oncotarget.6567
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cgpPindel: Identifying Somatically Acquired Insertion and Deletion Events from Paired End Sequencing.
Current protocols in bioinformatics 2015;52;15.7.1-12
PUBMED: 26678382; PMC: 6097606; DOI: 10.1002/0471250953.bi1507s52
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Chromothripsis and Kataegis Induced by Telomere Crisis.
Cell 2015;163;7;1641-54
PUBMED: 26687355; PMC: 4687025; DOI: 10.1016/j.cell.2015.11.054
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VAGrENT: Variation Annotation Generator.
Current protocols in bioinformatics 2015;52;15.8.1-11
PUBMED: 26678383; PMC: 6101192; DOI: 10.1002/0471250953.bi1508s52
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Clock-like mutational processes in human somatic cells.
Nature genetics 2015;47;12;1402-7
PUBMED: 26551669; PMC: 4783858; DOI: 10.1038/ng.3441
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Aberrant splicing of genes involved in haemoglobin synthesis and impaired terminal erythroid maturation in SF3B1 mutated refractory anaemia with ring sideroblasts.
British journal of haematology 2015;171;4;478-90
PUBMED: 26255870; PMC: 4832260; DOI: 10.1111/bjh.13610
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DNMT3A mutations occur early or late in patients with myeloproliferative neoplasms and mutation order influences phenotype.
Haematologica 2015;100;11;e438-42
PUBMED: 26250577; PMC: 4825297; DOI: 10.3324/haematol.2015.129510
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Principles Governing A-to-I RNA Editing in the Breast Cancer Transcriptome.
Cell reports 2015;13;2;277-89
PUBMED: 26440892; DOI: 10.1016/j.celrep.2015.09.032
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Somatic mutation in cancer and normal cells.
Science (New York, N.Y.) 2015;349;6255;1483-9
PUBMED: 26404825; DOI: 10.1126/science.aab4082
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Uncovering the genomic heterogeneity of multifocal breast cancer.
The Journal of pathology 2015;236;4;457-66
PUBMED: 25850943; PMC: 4691324; DOI: 10.1002/path.4540
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Data analysis: Create a cloud commons.
Nature 2015;523;7559;149-51
PUBMED: 26156357; DOI: 10.1038/523149a
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SF3B1 mutation identifies a distinct subset of myelodysplastic syndrome with ring sideroblasts.
Blood 2015;126;2;233-41
PUBMED: 25957392; PMC: 4528082; DOI: 10.1182/blood-2015-03-633537
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Subclonal diversification of primary breast cancer revealed by multiregion sequencing.
Nature medicine 2015;21;7;751-9
PUBMED: 26099045; PMC: 4500826; DOI: 10.1038/nm.3886
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Frequent somatic transfer of mitochondrial DNA into the nuclear genome of human cancer cells.
Genome research 2015;25;6;814-24
PUBMED: 25963125; PMC: 4448678; DOI: 10.1101/gr.190470.115
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Tumor evolution. High burden and pervasive positive selection of somatic mutations in normal human skin.
Science (New York, N.Y.) 2015;348;6237;880-6
PUBMED: 25999502; PMC: 4471149; DOI: 10.1126/science.aaa6806
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Disruption of SF3B1 results in deregulated expression and splicing of key genes and pathways in myelodysplastic syndrome hematopoietic stem and progenitor cells.
Leukemia 2015;29;5;1092-103
PUBMED: 25428262; PMC: 4430703; DOI: 10.1038/leu.2014.331
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The epigenetic regulators CBP and p300 facilitate leukemogenesis and represent therapeutic targets in acute myeloid leukemia.
Oncogene 2015
PUBMED: 25893291; DOI: 10.1038/onc.2015.92
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The evolutionary history of lethal metastatic prostate cancer.
Nature 2015;520;7547;353-357
PUBMED: 25830880; PMC: 4413032; DOI: 10.1038/nature14347
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Analysis of the genetic phylogeny of multifocal prostate cancer identifies multiple independent clonal expansions in neoplastic and morphologically normal prostate tissue.
Nature genetics 2015;47;4;367-372
PUBMED: 25730763; PMC: 4380509; DOI: 10.1038/ng.3221
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Combined hereditary and somatic mutations of replication error repair genes result in rapid onset of ultra-hypermutated cancers.
Nature genetics 2015;47;3;257-62
PUBMED: 25642631; DOI: 10.1038/ng.3202
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Effect of mutation order on myeloproliferative neoplasms.
The New England journal of medicine 2015;372;7;601-612
PUBMED: 25671252; PMC: 4660033; DOI: 10.1056/NEJMoa1412098
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Characterization of gene mutations and copy number changes in acute myeloid leukemia using a rapid target enrichment protocol.
Haematologica 2015;100;2;214-22
PUBMED: 25381129; PMC: 4803131; DOI: 10.3324/haematol.2014.113381
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Recurrent ETNK1 mutations in atypical chronic myeloid leukemia.
Blood 2015;125;3;499-503
PUBMED: 25343957; DOI: 10.1182/blood-2014-06-579466
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A comprehensive assessment of somatic mutation detection in cancer using whole-genome sequencing.
Nature communications 2015;6;10001
PUBMED: 26647970; PMC: 4682041; DOI: 10.1038/ncomms10001
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Combining gene mutation with gene expression data improves outcome prediction in myelodysplastic syndromes.
Nature communications 2015;6;5901
PUBMED: 25574665; PMC: 4338540; DOI: 10.1038/ncomms6901
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COSMIC: exploring the world's knowledge of somatic mutations in human cancer.
Nucleic acids research 2015;43;Database issue;D805-11
PUBMED: 25355519; PMC: 4383913; DOI: 10.1093/nar/gku1075
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Genetic variation at MECOM, TERT, JAK2 and HBS1L-MYB predisposes to myeloproliferative neoplasms.
Nature communications 2015;6;6691
PUBMED: 25849990; PMC: 4396373; DOI: 10.1038/ncomms7691
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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.
PloS one 2015;10;9;e0134833
PUBMED: 26325507; PMC: 4556522; DOI: 10.1371/journal.pone.0134833
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Minimal morphological criteria for defining bone marrow dysplasia: a basis for clinical implementation of WHO classification of myelodysplastic syndromes.
Leukemia 2015;29;1;66-75
PUBMED: 24935723; DOI: 10.1038/leu.2014.161
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Nongenetic stochastic expansion of JAK2V617F-homozygous subclones in polycythemia vera?
Blood 2014;124;22;3332-4
PUBMED: 25414437; PMC: 4239339; DOI: 10.1182/blood-2014-09-603043
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The AURORA initiative for metastatic breast cancer.
British journal of cancer 2014;111;10;1881-7
PUBMED: 25225904; PMC: 4229627; DOI: 10.1038/bjc.2014.341
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Modification of British Committee for Standards in Haematology diagnostic criteria for essential thrombocythaemia.
British journal of haematology 2014;167;3;421-3
PUBMED: 24935860; DOI: 10.1111/bjh.12986
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Spatial and temporal diversity in genomic instability processes defines lung cancer evolution.
Science (New York, N.Y.) 2014;346;6206;251-6
PUBMED: 25301630; PMC: 4636050; DOI: 10.1126/science.1253462
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C. elegans whole-genome sequencing reveals mutational signatures related to carcinogens and DNA repair deficiency.
Genome research 2014;24;10;1624-36
PUBMED: 25030888; PMC: 4199376; DOI: 10.1101/gr.175547.114
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Origins and functional consequences of somatic mitochondrial DNA mutations in human cancer.
eLife 2014;3
PUBMED: 25271376; PMC: 4371858; DOI: 10.7554/eLife.02935
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Genome sequencing of normal cells reveals developmental lineages and mutational processes.
Nature 2014;513;7518;422-425
PUBMED: 25043003; PMC: 4227286; DOI: 10.1038/nature13448
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Driver somatic mutations identify distinct disease entities within myeloid neoplasms with myelodysplasia.
Blood 2014;124;9;1513-21
PUBMED: 24970933; PMC: 4148773; DOI: 10.1182/blood-2014-03-560227
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Fibroblastic growth factor receptor 1 amplification in osteosarcoma is associated with poor response to neo-adjuvant chemotherapy.
Cancer medicine 2014;3;4;980-7
PUBMED: 24861215; PMC: 4303166; DOI: 10.1002/cam4.268
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Mobile DNA in cancer. Extensive transduction of nonrepetitive DNA mediated by L1 retrotransposition in cancer genomes.
Science (New York, N.Y.) 2014;345;6196;1251343
PUBMED: 25082706; PMC: 4380235; DOI: 10.1126/science.1251343
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Myelodysplastic syndromes are propagated by rare and distinct human cancer stem cells in vivo.
Cancer cell 2014;25;6;794-808
PUBMED: 24835589; DOI: 10.1016/j.ccr.2014.03.036
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Association of a germline copy number polymorphism of APOBEC3A and APOBEC3B with burden of putative APOBEC-dependent mutations in breast cancer.
Nature genetics 2014;46;5;487-91
PUBMED: 24728294; PMC: 4137149; DOI: 10.1038/ng.2955
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Subclonal variant calling with multiple samples and prior knowledge.
Bioinformatics (Oxford, England) 2014;30;9;1198-204
PUBMED: 24443148; PMC: 3998123; DOI: 10.1093/bioinformatics/btt750
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Processed pseudogenes acquired somatically during cancer development.
Nature communications 2014;5;3644
PUBMED: 24714652; PMC: 3996531; DOI: 10.1038/ncomms4644
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Constitutional and somatic rearrangement of chromosome 21 in acute lymphoblastic leukaemia.
Nature 2014;508;7494;98-102
PUBMED: 24670643; PMC: 3976272; DOI: 10.1038/nature13115
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Recurrent PTPRB and PLCG1 mutations in angiosarcoma.
Nature genetics 2014;46;4;376-379
PUBMED: 24633157; PMC: 4032873; DOI: 10.1038/ng.2921
-
RAG-mediated recombination is the predominant driver of oncogenic rearrangement in ETV6-RUNX1 acute lymphoblastic leukemia.
Nature genetics 2014;46;2;116-25
PUBMED: 24413735; PMC: 3960636; DOI: 10.1038/ng.2874
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Transmissible [corrected] dog cancer genome reveals the origin and history of an ancient cell lineage.
Science (New York, N.Y.) 2014;343;6169;437-440
PUBMED: 24458646; PMC: 3918581; DOI: 10.1126/science.1247167
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Heterogeneity of genomic evolution and mutational profiles in multiple myeloma.
Nature communications 2014;5;2997
PUBMED: 24429703; PMC: 3905727; DOI: 10.1038/ncomms3997
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Inactivating CUX1 mutations promote tumorigenesis.
Nature genetics 2014;46;1;33-8
PUBMED: 24316979; PMC: 3874239; DOI: 10.1038/ng.2846
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OncoCis: annotation of cis-regulatory mutations in cancer.
Genome biology 2014;15;10;485
PUBMED: 25298093; PMC: 4224696; DOI: 10.1186/s13059-014-0485-0
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Somatic CALR mutations in myeloproliferative neoplasms with nonmutated JAK2.
The New England journal of medicine 2013;369;25;2391-2405
PUBMED: 24325359; PMC: 3966280; DOI: 10.1056/NEJMoa1312542
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GATA1-mutant clones are frequent and often unsuspected in babies with Down syndrome: identification of a population at risk of leukemia.
Blood 2013;122;24;3908-17
PUBMED: 24021668; PMC: 3995281; DOI: 10.1182/blood-2013-07-515148
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Distinct H3F3A and H3F3B driver mutations define chondroblastoma and giant cell tumor of bone.
Nature genetics 2013;45;12;1479-82
PUBMED: 24162739; PMC: 3839851; DOI: 10.1038/ng.2814
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Single-cell mutational profiling and clonal phylogeny in cancer.
Genome research 2013;23;12;2115-25
PUBMED: 24056532; PMC: 3847780; DOI: 10.1101/gr.159913.113
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Clinical and biological implications of driver mutations in myelodysplastic syndromes.
Blood 2013;122;22;3616-27; quiz 3699
PUBMED: 24030381; PMC: 3837510; DOI: 10.1182/blood-2013-08-518886
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Signatures of mutational processes in human cancer.
Nature 2013;500;7463;415-21
PUBMED: 23945592; PMC: 3776390; DOI: 10.1038/nature12477
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Frequent mutation of the major cartilage collagen gene COL2A1 in chondrosarcoma.
Nature genetics 2013;45;8;923-6
PUBMED: 23770606; PMC: 3743157; DOI: 10.1038/ng.2668
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Single-cell paired-end genome sequencing reveals structural variation per cell cycle.
Nucleic acids research 2013;41;12;6119-38
PUBMED: 23630320; PMC: 3695511; DOI: 10.1093/nar/gkt345
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Whole exome sequencing of adenoid cystic carcinoma.
The Journal of clinical investigation 2013;123;7;2965-8
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Clonal analyses reveal associations of JAK2V617F homozygosity with hematologic features, age and gender in polycythemia vera and essential thrombocythemia.
Haematologica 2013;98;5;718-21
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Cooperativity of imprinted genes inactivated by acquired chromosome 20q deletions.
The Journal of clinical investigation 2013;123;5;2169-82
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EMu: probabilistic inference of mutational processes and their localization in the cancer genome.
Genome biology 2013;14;4;R39
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DNA deaminases induce break-associated mutation showers with implication of APOBEC3B and 3A in breast cancer kataegis.
eLife 2013;2;e00534
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Aberrant 3' oligoadenylation of spliceosomal U6 small nuclear RNA in poikiloderma with neutropenia.
Blood 2013;121;6;1028-38
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Deciphering signatures of mutational processes operative in human cancer.
Cell reports 2013;3;1;246-59
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The genetic heterogeneity and mutational burden of engineered melanomas in zebrafish models.
Genome biology 2013;14;10;R113
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Next-generation sequencing in breast cancer: first take home messages.
Current opinion in oncology 2012;24;6;597-604
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JAK2V617F homozygosity arises commonly and recurrently in PV and ET, but PV is characterized by expansion of a dominant homozygous subclone.
Blood 2012;120;13;2704-7
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LRP1B deletion in high-grade serous ovarian cancers is associated with acquired chemotherapy resistance to liposomal doxorubicin.
Cancer research 2012;72;16;4060-73
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The life history of 21 breast cancers.
Cell 2012;149;5;994-1007
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The landscape of cancer genes and mutational processes in breast cancer.
Nature 2012;486;7403;400-4
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Exome sequencing identifies frequent mutation of the SWI/SNF complex gene PBRM1 in renal carcinoma.
Nature 2011;469;7331;539-42
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Massive genomic rearrangement acquired in a single catastrophic event during cancer development.
Cell 2011;144;1;27-40
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The patterns and dynamics of genomic instability in metastatic pancreatic cancer.
Nature 2010;467;7319;1109-13
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International network of cancer genome projects.
Nature 2010;464;7291;993-8
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Origins and functional impact of copy number variation in the human genome.
Nature 2010;464;7289;704-12
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Signatures of mutation and selection in the cancer genome.
Nature 2010;463;7283;893-8
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Systematic sequencing of renal carcinoma reveals inactivation of histone modifying genes.
Nature 2010;463;7279;360-3
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A comprehensive catalogue of somatic mutations from a human cancer genome.
Nature 2010;463;7278;191-6
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A small-cell lung cancer genome with complex signatures of tobacco exposure.
Nature 2010;463;7278;184-90
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Somatic mutations of the histone H3K27 demethylase gene UTX in human cancer.
Nature genetics 2009;41;5;521-3
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The cancer genome.
Nature 2009;458;7239;719-24
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Somatic and germline genetics at the JAK2 locus.
Nature genetics 2009;41;4;385-6
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Subclonal phylogenetic structures in cancer revealed by ultra-deep sequencing.
Proceedings of the National Academy of Sciences of the United States of America 2008;105;35;13081-6
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Identification of somatically acquired rearrangements in cancer using genome-wide massively parallel paired-end sequencing.
Nature genetics 2008;40;6;722-9
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Chromosomally unstable mouse tumours have genomic alterations similar to diverse human cancers.
Nature 2007;447;7147;966-71
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Patterns of somatic mutation in human cancer genomes.
Nature 2007;446;7132;153-8
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An acquired translocation in JAK2 Val617Phe-negative essential thrombocythemia associated with autosomal spread of X-inactivation.
Haematologica 2006;91;8;1100-4
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Definition of subtypes of essential thrombocythaemia and relation to polycythaemia vera based on JAK2 V617F mutation status: a prospective study.
Lancet (London, England) 2005;366;9501;1945-53
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Acquired mutation of the tyrosine kinase JAK2 in human myeloproliferative disorders.
Lancet (London, England) 2005;365;9464;1054-61
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