Discovery and saturation analysis of cancer genes across 21 tumour types View Full Text


Ontology type: schema:ScholarlyArticle      Open Access: True


Article Info

DATE

2014-01-05

AUTHORS

Michael S. Lawrence, Petar Stojanov, Craig H. Mermel, James T. Robinson, Levi A. Garraway, Todd R. Golub, Matthew Meyerson, Stacey B. Gabriel, Eric S. Lander, Gad Getz

ABSTRACT

Although a few cancer genes are mutated in a high proportion of tumours of a given type (>20%), most are mutated at intermediate frequencies (2–20%). To explore the feasibility of creating a comprehensive catalogue of cancer genes, we analysed somatic point mutations in exome sequences from 4,742 human cancers and their matched normal-tissue samples across 21 cancer types. We found that large-scale genomic analysis can identify nearly all known cancer genes in these tumour types. Our analysis also identified 33 genes that were not previously known to be significantly mutated in cancer, including genes related to proliferation, apoptosis, genome stability, chromatin regulation, immune evasion, RNA processing and protein homeostasis. Down-sampling analysis indicates that larger sample sizes will reveal many more genes mutated at clinically important frequencies. We estimate that near-saturation may be achieved with 600–5,000 samples per tumour type, depending on background mutation frequency. The results may help to guide the next stage of cancer genomics. More... »

PAGES

495-501

Journal

TITLE

Nature

ISSUE

7484

VOLUME

505

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  • Identifiers

    URI

    http://scigraph.springernature.com/pub.10.1038/nature12912

    DOI

    http://dx.doi.org/10.1038/nature12912

    DIMENSIONS

    https://app.dimensions.ai/details/publication/pub.1043554069

    PUBMED

    https://www.ncbi.nlm.nih.gov/pubmed/24390350


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