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This article is part of the supplement: Beyond the Genome: The true gene count, human evolution and disease genomics

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Diverse somatic mutation patterns and pathway alterations in human cancers

Zhengyan Kan12*, Bijay S Jaiswal1 and Somasekar Seshagiri1

  • * Corresponding author: Zhengyan Kan

Author Affiliations

1 Department of Molecular Biology, Genentech Inc., 1 DNA Way, South San Francisco, CA 94080, USA

2 Department of Bioinformatics, Genentech Inc., 1 DNA Way, South San Francisco, CA 94080, USA

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Genome Biology 2010, 11(Suppl 1):P37  doi:10.1186/gb-2010-11-s1-p37

The electronic version of this article is the complete one and can be found online at:

Published:11 October 2010

© 2010 Kan et al; licensee BioMed Central Ltd.

Poster presentation

Systematic characterization of somatic mutations in cancer genomes is essential for understanding the disease and developing targeted therapeutics [1]. Here we report the identification of 2576 somatic mutations across ~1,800 Mb of DNA, representing 1507 coding genes from 441 tumors, consisting of breast, lung, ovarian and prostate cancer types and subtypes. We found that mutation rates and the sets of mutated genes varied substantially across tumor types and subtypes. Statistical analysis identified 77 significantly mutated genes including those encoding protein kinases, G-protein-coupled receptors, such as GRM8, BAI3, AGTRL1 and LPHN3, and other druggable targets. Integrated analysis of somatic mutations and copy number alterations identified a further 35 significantly altered genes including GNAS, suggesting an expanded role for Gα subunits in multiple cancer types. Furthermore, our experimental analyses demonstrate the functional roles of mutant GNAO1 - a Gα subunit, and mutant MAP2K4 - a member of JNK signaling pathway, in oncogenesis. Our study provides an overview of the mutational spectra across major human cancers and identifies several potential therapeutic targets.


  1. Futreal PA, et al.: A census of human cancer genes.

    Nat Rev Cancer 2004, 4:177-183. PubMed Abstract | Publisher Full Text | PubMed Central Full Text OpenURL