logo

MOBILE GENOMES & DISEASE

'We investigate the impact of mobile DNA on disease, and the genetic mechanisms that make cancers transmissible'

Jose Tubio | Group leader

jmctubio@gmail.com

Dr. Jose Tubio (Spain, 1978) is author of more than 10 papers in the high-impact journals Science, Nature and Nature Genetics. For the last years, he has carried out his research at the forefront of cancer genomics, being involved in the discovery of new cancer genes in haematological cancers and bone cancers, the identification of new mutational mechanisms in cancer development, the characterization of the evolutionary dynamics of metastasis, and the identification of mutational processes and genes that drive transmissible cancers. Noteworthy, the research he has carried out in the field of cancer retrotransposition is changing our understanding of the role that retrotransposons play in cancer. Currently, he is holder of an ERC Starting Grant, which aims the discovery of the genetic mechanisms that drive transmissible cancers.

Jose Tubio’s research focuses on the impact of structural variation in cancer development, and the genetic changes that make cancers contagious between individuals.

"The main focus of my research interests along my scientific career has been the impact of genomic structural variation (especially retrotransposition) on the function of eukaryotic genomes, and its role in disease (especially cancer). My research group is participating in the Pancancer Initiative of the International Cancer Genome Consortium (ICGC) and the Cancer Genome Atlas (TCGA), to investigate the mechanisms of coevolution between TEs and cancer. In addition, I am increasingly interested in the identification of drivers of cancer transmissibility in clonally transmissible cancers (i.e., cancers that are transmitted between individuals by direct transfer of living cancer cells)."




SELECTED PUBLICATIONS

Mobile DNA in cancer. Extensive transduction of nonrepetitive DNA mediated by L1 retrotransposition in cancer genomes.
Tubio JMC, Li Y, Ju YS, Martincorena I, Cooke SL, Tojo M, Gundem G, Pipinikas CP, Zamora J, Raine K, Menzies A, Roman-Garcia P, Fullam A, Gerstung M, Shlien A, Tarpey PS, Papaemmanuil E, Knappskog S, Van Loo P, Ramakrishna M, Davies HR, Marshall J, Wedge DC, Teague JW, Butler AP, Nik-Zainal S, Alexandrov L, Behjati S, Yates LR, Bolli N, Mudie L, Hardy C, Martin S, McLaren S, O'Meara S, Anderson E, Maddison M, Gamble S, Foster C, Warren AY, Whitaker H, Brewer D, Eeles R, Cooper C, Neal D, Lynch AG, Visakorpi T, Isaacs WB, Veer LV, Caldas C, Desmedt C, Sotiriou C, Aparicio S, Foekens JA, Eyfjörd JE, Lakhani SR, Thomas G, Myklebost O, Span PN, Børresen-Dale AL, Richardson AL, Van de Vijver M, Vincent-Salomon A, Van den Eynden GG, Flanagan AM, Futreal PA, Janes SM, Bova GS, Stratton MR, McDermott U, Campbell PJ, ICGC Breast Cancer Group., ICGC Bone Cancer Group., ICGC Prostate Cancer Group. Science (New York, N.Y.) 345 1251343 2014 Aug 1

PUBMED: 25082706; PMC: 4380235; DOI: 10.1126/science.1251343

Cancer: When catastrophe strikes a cell.
Tubio JM, Estivill X Nature 470 476-7 2011 Feb 24

PUBMED: 21350479; DOI: doi:10.1038/470476a

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, McLaren S, Wedge DC, Fullam A, Alexandrov LB, Tubio JM, Stebbings L, Menzies A, Widaa S, Stratton MR, Jones PH, Campbell PJ Science (New York, N.Y.) 348 880-6 2015 May 22

PUBMED: 25999502; PMC: 4471149; DOI: 10.1126/science.aaa6806

The evolutionary history of lethal metastatic prostate cancer.
Gundem G, Van Loo P, Kremeyer B, Alexandrov LB, Tubio JMC, Papaemmanuil E, Brewer DS, Kallio HML, Högnäs G, Annala M, Kivinummi K, Goody V, Latimer C, O'Meara S, Dawson KJ, Isaacs W, Emmert-Buck MR, Nykter M, Foster C, Kote-Jarai Z, Easton D, Whitaker HC, ICGC Prostate Group., Neal DE, Cooper CS, Eeles RA, Visakorpi T, Campbell PJ, McDermott U, Wedge DC, Bova GS Nature 520 353-357 2015 Apr 16

PUBMED: 25830880; DOI: 10.1038/nature14347

Transmissible [corrected] dog cancer genome reveals the origin and history of an ancient cell lineage.
Murchison EP, Wedge DC, Alexandrov LB, Fu B, Martincorena I, Ning Z, Tubio JMC, Werner EI, Allen J, De Nardi AB, Donelan EM, Marino G, Fassati A, Campbell PJ, Yang F, Burt A, Weiss RA, Stratton MR Science (New York, N.Y.) 343 437-440 2014 Jan 24

PUBMED: 24458646; PMC: 3918581; DOI: 10.1126/science.1247167

RAG-mediated recombination is the predominant driver of oncogenic rearrangement in ETV6-RUNX1 acute lymphoblastic leukemia.
Papaemmanuil E, Rapado I, Li Y, Potter NE, Wedge DC, Tubio J, Alexandrov LB, Van Loo P, Cooke SL, Marshall J, Martincorena I, Hinton J, Gundem G, van Delft FW, Nik-Zainal S, Jones DR, Ramakrishna M, Titley I, Stebbings L, Leroy C, Menzies A, Gamble J, Robinson B, Mudie L, Raine K, O'Meara S, Teague JW, Butler AP, Cazzaniga G, Biondi A, Zuna J, Kempski H, Muschen M, Ford AM, Stratton MR, Greaves M, Campbell PJ Nature genetics 46 116-25 2014 Feb

PUBMED: 24413735; PMC: 3960636; DOI: 10.1038/ng.2874

Frequent mutation of the major cartilage collagen gene COL2A1 in chondrosarcoma.
Tarpey PS, Behjati S, Cooke SL, Van Loo P, Wedge DC, Pillay N, Marshall J, O'Meara S, Davies H, Nik-Zainal S, Beare D, Butler A, Gamble J, Hardy C, Hinton J, Jia MM, Jayakumar A, Jones D, Latimer C, Maddison M, Martin S, McLaren S, Menzies A, Mudie L, Raine K, Teague JW, Tubio JM, Halai D, Tirabosco R, Amary F, Campbell PJ, Stratton MR, Flanagan AM, Futreal PA Nature genetics 45 923-6 2013 Aug

PUBMED: 23770606; PMC: 3743157; DOI: 10.1038/ng.2668

Whole-genome sequencing identifies recurrent mutations in chronic lymphocytic leukaemia.
Puente XS, Pinyol M, Quesada V, Conde L, Ordóñez GR, Villamor N, Escaramis G, Jares P, Beà S, González-Díaz M, Bassaganyas L, Baumann T, Juan M, López-Guerra M, Colomer D, Tubío JM, López C, Navarro A, Tornador C, Aymerich M, Rozman M, Hernández JM, Puente DA, Freije JM, Velasco G, Gutiérrez-Fernández A, Costa D, Carrió A, Guijarro S, Enjuanes A, Hernández L, Yagüe J, Nicolás P, Romeo-Casabona CM, Himmelbauer H, Castillo E, Dohm JC, de Sanjosé S, Piris MA, de Alava E, San Miguel J, Royo R, Gelpí JL, Torrents D, Orozco M, Pisano DG, Valencia A, Guigó R, Bayés M, Heath S, Gut M, Klatt P, Marshall J, Raine K, Stebbings LA, Futreal PA, Stratton MR, Campbell PJ, Gut I, López-Guillermo A, Estivill X, Montserrat E, López-Otín C, Campo E Nature 475 101-5 2011 Jun 5

PUBMED: 21642962; PMC: 3322590; DOI: 10.1038/nature10113

Exome sequencing identifies recurrent mutations of the splicing factor SF3B1 gene in chronic lymphocytic leukemia.
Quesada V, Conde L, Villamor N, Ordóñez GR, Jares P, Bassaganyas L, Ramsay AJ, Beà S, Pinyol M, Martínez-Trillos A, López-Guerra M, Colomer D, Navarro A, Baumann T, Aymerich M, Rozman M, Delgado J, Giné E, Hernández JM, González-Díaz M, Puente DA, Velasco G, Freije JM, Tubío JM, Royo R, Gelpí JL, Orozco M, Pisano DG, Zamora J, Vázquez M, Valencia A, Himmelbauer H, Bayés M, Heath S, Gut M, Gut I, Estivill X, López-Guillermo A, Puente XS, Campo E, López-Otín C Nature genetics 44 47-52 2011 Dec 11

PUBMED: 22158541; DOI: 10.1038/ng.1032