Jose Tubio | Principal Investigator

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).



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.





Bernardo Rodríguez Martín, PhD student

Pan-cancer retrotransposition




Eva García Álvarez, PhD student

Cancer microbiome




Alicia L. Bruzos, PhD student

Cancer transmissibility





Martin Santamarina, PhD student

Cancer retrotransposition





Dr. Jorge Zamora, Postdoc

Principal bioinformatician





Dr. Seila Díaz, Postdoc

Cancer transmissibility



Other lab members:

Daniel Gacía Souto, Researcher

Pilar Alvariño, Lab technician

Juana Beatriz Alonso, Lab technician

María Mercedes (Merchi) Rodríguez, Administrative assistant



More at Researchgate


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 2014; 345; 6196; 1251343

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


Cancer: When catastrophe strikes a cell.

Tubio JM and Estivill X.

Nature 2011; 470; 7335; 476-477

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


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

Martincorena et al (includes Tubio JMC)

Science 2015; 348; 6237; 880-888

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


The evolutionary history of lethal metastatic prostate cancer.

Gundem et al (includes Tubio JMC)

Nature 2015; 520; 7547; 353-357

PUBMED: 25830880; DOI: 10.1038/nature14347


Transmissible dog cancer genome reveals the origin and history of an ancient cell lineage.

Murchison et al (includes Tubio JMC)

Science 2014; 343; 6169; 437-440

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 et al (includes Tubio JMC)

Nature Genetics 2014; 46; 2; 116-125

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


Frequent mutation of the major cartilage collagen gene COL2A1 in chondrosarcoma.

Tarpey et al (includes Tubio JMC)

Nature Genetics 2013; 45; 8; 923-926

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


Whole-genome sequencing identifies recurrent mutations in chronic lymphocytic leukemia.

Puente et al (includes Tubio JMC)

Nature 2011; 475; 7354; 101-105

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


Exome sequencing identifies recurrent mutations of the splicing factor SF3B1 gene in chronic lymphocytic leukemia.

Quesada et al (includes Tubio JMC)

Nature Genetics 2011; 44; 1; 47-52

PUBMED: 22158541; DOI: 10.1038/ng.1032