Cancer genome project

All cancers occur due to abnormalities in DNA sequence. Cancer affects people at all ages with the risk for most types increasing with age.

One in three people in the Western world develop cancer and one in five die of the disease. Cancer is therefore the most common genetic disease.

[Anne Weston, Wellcome Images]

Background

Throughout life, the genome within cells of the human body is exposed to mutagens and suffers mistakes in replication. These corrosive influences result in progressive, subtle divergence of the DNA sequence in each cell from that originally constituted in the fertilised egg.

Lung cancer

Lung cancer
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Occasionally, one of these somatic mutations alters the function of a critical gene, providing a growth advantage to the cell in which it has occurred and resulting in the emergence of an expanded clone derived from this cell. Acquisition of additional mutations, and consequent waves of clonal expansion result in the evolution of the mutinous cells that invade surrounding tissues and metastasise.

The identification of genes that are mutated and hence drive oncogenesis has been a central aim of cancer research since the advent of recombinant DNA technology.

The Cancer Genome Project is using the human genome sequence and high-throughput mutation detection techniques to identify somatically acquired sequence variants/mutations and hence identify genes critical to the development of human cancers (see our intragenic mutations page for a description of our strategy). This initiative will ultimately provide the paradigm for the detection of germline mutations in non-neoplastic human genetic diseases through genome-wide mutation detection approaches.

This is an ongoing project and we will be adding further data in the future. If you would like to be informed when new data is released please sign up here

Resources

Data resources

Cancer Gene Census:
Mutated genes causally implicated in human cancer.

COSMIC:
Catalogue of somatic mutations in cancer

CGP resequencing studies:
Somatic mutations from systematic large scale resequencing of genes in human cancers.

CGP cancer cell line project:
Resequencing of known cancer genes and other analyses of human cancer cell lines.

CGP copy number analysis in cancer:
Analysis of copy number and loss of heterozygosity in cancer cell lines and primary tumours.

CGP trace and genotype archive:
Archive of sequence traces and genotype data generated by the group.

Cancer translation project:
Analysis of drug sensitivity data in human cancer cell lines.


Software resources

  • AutoCSA - Mutation detection software
  • DBCon - Database pooling, distributed configuration and SQL Libraries for Java
  • PICNIC - SNP6 Copy number segmentation tool

Selected Publications

  • Somatic mutations of the histone H3K27 demethylase gene UTX in human cancer.

    van Haaften G, Dalgliesh GL, Davies H, Chen L, Bignell G, Greenman C, Edkins S, Hardy C, O'Meara S, Teague J, Butler A, Hinton J, Latimer C, Andrews J, Barthorpe S, Beare D, Buck G, Campbell PJ, Cole J, Forbes S, Jia M, Jones D, Kok CY, Leroy C, Lin ML, McBride DJ, Maddison M, Maquire S, McLay K, Menzies A, Mironenko T, Mulderrig L, Mudie L, Pleasance E, Shepherd R, Smith R, Stebbings L, Stephens P, Tang G, Tarpey PS, Turner R, Turrell K, Varian J, West S, Widaa S, Wray P, Collins VP, Ichimura K, Law S, Wong J, Yuen ST, Leung SY, Tonon G, DePinho RA, Tai YT, Anderson KC, Kahnoski RJ, Massie A, Khoo SK, Teh BT, Stratton MR and Futreal PA

    Nature genetics 2009;41;5;521-3

    PUBMED: 19330029; DOI: 10.1038/ng.349

  • Lung cancer: intragenic ERBB2 kinase mutations in tumours.

    Stephens P, Hunter C, Bignell G, Edkins S, Davies H, Teague J, Stevens C, O'Meara S, Smith R, Parker A, Barthorpe A, Blow M, Brackenbury L, Butler A, Clarke O, Cole J, Dicks E, Dike A, Drozd A, Edwards K, Forbes S, Foster R, Gray K, Greenman C, Halliday K, Hills K, Kosmidou V, Lugg R, Menzies A, Perry J, Petty R, Raine K, Ratford L, Shepherd R, Small A, Stephens Y, Tofts C, Varian J, West S, Widaa S, Yates A, Brasseur F, Cooper CS, Flanagan AM, Knowles M, Leung SY, Louis DN, Looijenga LH, Malkowicz B, Pierotti MA, Teh B, Chenevix-Trench G, Weber BL, Yuen ST, Harris G, Goldstraw P, Nicholson AG, Futreal PA, Wooster R and Stratton MR

    Nature 2004;431;7008;525-6

    PUBMED: 15457249; DOI: 10.1038/431525b

  • Mutations of the BRAF gene in human cancer.

    Davies H, Bignell GR, Cox C, Stephens P, Edkins S, Clegg S, Teague J, Woffendin H, Garnett MJ, Bottomley W, Davis N, Dicks E, Ewing R, Floyd Y, Gray K, Hall S, Hawes R, Hughes J, Kosmidou V, Menzies A, Mould C, Parker A, Stevens C, Watt S, Hooper S, Wilson R, Jayatilake H, Gusterson BA, Cooper C, Shipley J, Hargrave D, Pritchard-Jones K, Maitland N, Chenevix-Trench G, Riggins GJ, Bigner DD, Palmieri G, Cossu A, Flanagan A, Nicholson A, Ho JW, Leung SY, Yuen ST, Weber BL, Seigler HF, Darrow TL, Paterson H, Marais R, Marshall CJ, Wooster R, Stratton MR and Futreal PA

    Nature 2002;417;6892;949-54

    PUBMED: 12068308; DOI: 10.1038/nature00766