Designing the Future of Medicine
 
 
 
 
 
 
International Collaborations
 
Clinical data, biological samples

With dramatic reduction in cost, the first WGS and WES studies by applying NGS technologies in biological specimens from several tens cancer patients have started to being published in 2012. Goal of this effort is to identify biomarkers and new drug targets.

Related papers
1.  Stephens PJ, Tarpey PS, Davies H, Van Loo P, Greenman C, Wedge DC, et al. The landscape of cancer genes and mutational processes in breast cancer. Nature . 2012 May 16; 486 (7403):400-404.
2.  Shah SP, Roth A, Goya R, Oloumi A, Ha G, Zhao Y, et al. The clonal and mutational evolution spectrum of primary triple-negative breast cancers. Nature . 2012 Apr 4; 486 (7403):395-399.
3.  Ellis MJ, Ding L, Shen D, Luo J, Suman VJ, Wallis JW, et al. Whole-genome analysis informs breast cancer response to aromatase inhibition. Nature . 2012 Jun 10; 486 (7403):353-360.
4.  Northcott PA, Shih DJ, Peacock J, Garzia L, Sorana Morrissy A, Zichner T, et al. Subgroup-specific structural variation across 1,000 medulloblastoma genomes. Nature . 2012; e-pub ahead of print 25 July 2012; doi: 10.1038/nature11327.

Linking genome architecture changes with disease phenotype

Trying to correlate small (point mutations) and larger (copy number aberrations, translocations) DNA changes

With gene expression dusfunction and then this comprehensive structura; and functional genome architecture with clinical phenotypes (prognosis, resistance, drugs response) can increase the probability of clinical success in the research arena of biomarkers and drugs development.

Related papers
1.  Curtis C, Shah SP, Chin SF, Turashvili G, Rueda OM, Dunning MJ, e t a l. The genomic and transcriptomic architecture of 2,000 breast tumours reveals novel subgroups. Nature. 2012 Jun 21; 486 (7403):346-352.  
2.  Ross-Innes CS, Stark R, Teschendorff AE, Holmes KA, Ali HR, Dunning MJ , et al. Differential oestrogen receptor binding is associated with clinical outcome in breast cancer. Nature . 2012; 481 (7381):389-393.
3.  Jones DT, Jäger N, Kool M, Zichner T, Hutter B, Sultan M, et al. Dissecting the genomic complexity underlying medulloblastoma. Nature 2012; e-pub ahead of print 25 July 2012; doi: 10.1038/nature11284.
4.  Banerji S, Cibulskis K, Rangel-Escareno C, Brown KK, Carter SL, Frederick AM, et al. Sequence analysis of mutations and translocations across breast cancer subtypes. Nature . 2012 Jun 20; 486 (7403):405- 40 9.
5.  Seshagiri S, Stawiski EW, Durinck S, et al. Recurrent R-spondin fusions in colon cancer. Nature. 2012 Aug 15. doi: 10.1038/nature11282.
6.  Cancer Genome Atlas Network. Comprehensive molecular characterization of human colon and rectal cancer. Nature. 2012 Jul 18;487(7407):330-7. doi: 10.1038/nature11252.

 

ISSN : 1109 - 7647
   Print ISSN : 1109 - 7655

 

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last update: 11 December 2012