1 to 10 of 24 literature results

• A small-cell lung cancer genome with complex signatures of tobacco exposure.

  Cancer is driven by mutation. Worldwide, tobacco smoking is the principal lifestyle exposure that causes cancer, exerting carcinogenicity through >60 …

  Authors: Erin D Pleasance, Philip J Stephens, Sarah O'Meara, David J McBride, Alison Meynert, David Jones, Meng-Lay Lin, David Beare, King Wai Lau, Chris Greenman,…

  Source: Nature. 2010 Jan 14

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• A comprehensive catalogue of somatic mutations from a human cancer genome.

  All cancers carry somatic mutations. A subset of these somatic alterations, termed driver mutations, confer selective growth advantage and are implica…

  Authors: Erin D Pleasance, R Keira Cheetham, Philip J Stephens, David J McBride, Sean J Humphray, Chris D Greenman, Ignacio Varela, Meng-Lay Lin, Gonzalo R Ordóñez, Graham R Bignell,…

  Source: Nature. 2010 Jan 14

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• Systematic sequencing of renal carcinoma reveals inactivation of histone modifying genes.

  Clear cell renal cell carcinoma (ccRCC) is the most common form of adult kidney cancer, characterized by the presence of inactivating mutations in the…

  Authors: Gillian L Dalgliesh, Kyle Furge, Chris Greenman, Lina Chen, Graham Bignell, Adam Butler, Helen Davies, Sarah Edkins, Claire Hardy, Calli Latimer,…

  Source: Nature. 2010 Jan 21

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

  Somatically acquired epigenetic changes are present in many cancers. Epigenetic regulation is maintained via post-translational modifications of core …

  Authors: Gijs van Haaften, Gillian L Dalgliesh, Helen Davies, Lina Chen, Graham Bignell, Chris Greenman, Sarah Edkins, Claire Hardy, Sarah O'Meara, Jon Teague,…

  Source: Nature genetics. 2009 May

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• A systematic, large-scale resequencing screen of X-chromosome coding exons in mental retardation.

  Large-scale systematic resequencing has been proposed as the key future strategy for the discovery of rare, disease-causing sequence variants across t…

  Authors: Patrick S Tarpey, Raffaella Smith, Erin Pleasance, Annabel Whibley, Sarah Edkins, Claire Hardy, Sarah O'Meara, Calli Latimer, Ed Dicks, Andrew Menzies,…

  Source: Nature genetics. 2009 May

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• X-linked protocadherin 19 mutations cause female-limited epilepsy and cognitive impairment.

  Epilepsy and mental retardation limited to females (EFMR) is a disorder with an X-linked mode of inheritance and an unusual expression pattern. Disord…

  Authors: Leanne M Dibbens, Patrick S Tarpey, Kim Hynes, Marta A Bayly, Ingrid E Scheffer, Raffaella Smith, Jamee Bomar, Edwina Sutton, Lucianne Vandeleur, Cheryl Shoubridge,…

  Source: Nature genetics. 2008 Jun

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• Patterns of somatic mutation in human cancer genomes.

  Cancers arise owing to mutations in a subset of genes that confer growth advantage. The availability of the human genome sequence led us to propose th…

  Authors: Christopher Greenman, Philip Stephens, Raffaella Smith, Gillian L Dalgliesh, Christopher Hunter, Graham Bignell, Helen Davies, Jon Teague, Adam Butler, Claire Stevens,…

  Source: Nature. 2007 Mar 8

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• Novel candidate cancer genes identified by a large-scale cross-species comparative oncogenomics approach.

  Comparative genomic hybridization (CGH) can reveal important disease genes but the large regions identified could sometimes contain hundreds of genes.…

  Authors: Jenny Mattison, Jaap Kool, Anthony G Uren, Jeroen de Ridder, Lodewyk Wessels, Jos Jonkers, Graham R Bignell, Adam Butler, Alistair G Rust, Markus Brosch,…

  Source: Cancer research. 2010 Feb 1

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• Mutations in UPF3B, a member of the nonsense-mediated mRNA decay complex, cause syndromic and nonsyndromic mental retardation.

  Nonsense-mediated mRNA decay (NMD) is of universal biological significance. It has emerged as an important global RNA, DNA and translation regulatory …

  Authors: Patrick S Tarpey, F Lucy Raymond, Lam S Nguyen, Jayson Rodriguez, Anna Hackett, Lucianne Vandeleur, Raffaella Smith, Cheryl Shoubridge, Sarah Edkins, Claire Stevens,…

  Source: Nature genetics. 2007 Sep

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• A screen of the complete protein kinase gene family identifies diverse patterns of somatic mutations in human breast cancer.

  We examined the coding sequence of 518 protein kinases, approximately 1.3 Mb of DNA per sample, in 25 breast cancers. In many tumors, we detected no s…

  Authors: Philip Stephens, Sarah Edkins, Helen Davies, Chris Greenman, Charles Cox, Chris Hunter, Graham Bignell, Jon Teague, Raffaella Smith, Claire Stevens,…

  Source: Nature genetics. 2005 Jun

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