Martincorena Group | Somatic evolution

Martincorena Group | Somatic evolution

Martincorena Group


Our Research and Approach

Somatic mutations accumulate in all cells throughout life. They are responsible for cancer development, some developmental disorders and are believed to contribute to ageing. Yet, despite their critical importance, very little is known about the extent of somatic evolution in normal tissues due to traditional technical limitations. Our group investigates somatic mutation and evolution in healthy tissues and its implications for cancer development and ageing by combining genome sequencing, laser capture microscopy and computational data analysis.

We currently have four main areas of work:

  • Characterising somatic mutation in healthy tissues. In collaboration with others, we are charting the extent of somatic mutation and clonal selection across human tissues. This work has implications for understanding the earliest steps to cancer development and inform efforts in early detection.
  • Exploring the role of somatic mutation in ageing and disease. The degree of somatic mutation and selection in several tissues raises the question of whether these mutations may contribute to ageing and non-cancer diseases. We have initiated projects to explore this on several diseases.
  • Somatic mutation in other species. Somatic mutations are expected to occur in any species but our knowledge of this fundamental phenomenon remains in its infancy outside of humans.
  • New experimental and computational methods. We are developing new experimental methods to improve the detection of somatic mutations. We also develop new computational tools to quantify selection in somatic evolution and improve the discovery of cancer genes.


Martincorena, Inigo
Inigo Martincorena
Group Leader

Inigo is a group leader at the Sanger Institute investigating somatic mutation in cancer and normal cells.

Pantelis Nicola

Key Projects, Collaborations, Tools & Data

Programmes, Associate Research Programmes and Facilities

Partners and Funders

We are kindly supported by Cancer Research UK.
Internal Partners


  • Somatic mutant clones colonize the human esophagus with age.

    Martincorena I, Fowler JC, Wabik A, Lawson ARJ, Abascal F et al.

    Science (New York, N.Y.) 2018;362;6417;911-917

  • Universal Patterns of Selection in Cancer and Somatic Tissues.

    Martincorena I, Raine KM, Gerstung M, Dawson KJ, Haase K et al.

    Cell 2017;171;5;1029-1041.e21

  • 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

  • Somatic mutation in cancer and normal cells.

    Martincorena I and Campbell PJ

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

  • 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

  • Precision oncology for acute myeloid leukemia using a knowledge bank approach.

    Gerstung M, Papaemmanuil E, Martincorena I, Bullinger L, Gaidzik VI et al.

    Nature genetics 2017;49;3;332-340

  • Population dynamics of normal human blood inferred from somatic mutations.

    Lee-Six H, Øbro NF, Shepherd MS, Grossmann S, Dawson K et al.

    Nature 2018;561;7724;473-478

  • 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

  • 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

  • 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

  • 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

  • Evidence of non-random mutation rates suggests an evolutionary risk management strategy.

    Martincorena I, Seshasayee AS and Luscombe NM

    Nature 2012;485;7396;95-8

  • 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;2209-2221

  • 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;422-425

  • 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 et al.

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

  • 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 et al.

    Science (New York, N.Y.) 2014;343;6169;437-440

  • Inactivating CUX1 mutations promote tumorigenesis.

    Wong CC, Martincorena I, Rust AG, Rashid M, Alifrangis C et al.

    Nature genetics 2014;46;1;33-8

  • 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 et al.

    Nature genetics 2014;46;2;116-25

  • Recurrent PTPRB and PLCG1 mutations in angiosarcoma.

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

    Nature genetics 2014;46;4;376-379

  • Somatic CALR mutations in myeloproliferative neoplasms with nonmutated JAK2.

    Nangalia J, Massie CE, Baxter EJ, Nice FL, Gundem G et al.

    The New England journal of medicine 2013;369;25;2391-2405

  • Direct competition between hnRNP C and U2AF65 protects the transcriptome from the exonization of Alu elements.

    Zarnack K, König J, Tajnik M, Martincorena I, Eustermann S et al.

    Cell 2013;152;3;453-66