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Nature Genetics
Article . 2016 . Peer-reviewed
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Nature Genetics
Article . 2017
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Protein-structure-guided discovery of functional mutations across 19 cancer types

Authors: Beifang Niu; Adam D Scott; Sohini Sengupta; Matthew H Bailey; Prag Batra; Jie Ning; Matthew A Wyczalkowski; +12 Authors

Protein-structure-guided discovery of functional mutations across 19 cancer types

Abstract

Local concentrations of mutations are well known in human cancers. However, their three-dimensional spatial relationships in the encoded protein have yet to be systematically explored. We developed a computational tool, HotSpot3D, to identify such spatial hotspots (clusters) and to interpret the potential function of variants within them. We applied HotSpot3D to >4,400 TCGA tumors across 19 cancer types, discovering >6,000 intra- and intermolecular clusters, some of which showed tumor and/or tissue specificity. In addition, we identified 369 rare mutations in genes including TP53, PTEN, VHL, EGFR, and FBXW7 and 99 medium-recurrence mutations in genes such as RUNX1, MTOR, CA3, PI3, and PTPN11, all mapping within clusters having potential functional implications. As a proof of concept, we validated our predictions in EGFR using high-throughput phosphorylation data and cell-line-based experimental evaluation. Finally, mutation-drug cluster and network analysis predicted over 800 promising candidates for druggable mutations, raising new possibilities for designing personalized treatments for patients carrying specific mutations.

Keywords

Models, Molecular, Databases, Pharmaceutical, Computational Biology, Antineoplastic Agents, Neoplasm Proteins, Protein Structure, Tertiary, Gene Expression Regulation, Neoplastic, Neoplasms, Mutation, Humans, Protein Interaction Maps, Databases, Protein, Algorithms, Protein Binding

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    popularity
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    Top 1%
    influence
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    This indicator reflects the initial momentum of an article directly after its publication, based on the underlying citation network.
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selected citations
These citations are derived from selected sources.
This is an alternative to the "Influence" indicator, which also reflects the overall/total impact of an article in the research community at large, based on the underlying citation network (diachronically).
BIP!Citations provided by BIP!
popularity
This indicator reflects the "current" impact/attention (the "hype") of an article in the research community at large, based on the underlying citation network.
BIP!Popularity provided by BIP!
influence
This indicator reflects the overall/total impact of an article in the research community at large, based on the underlying citation network (diachronically).
BIP!Influence provided by BIP!
impulse
This indicator reflects the initial momentum of an article directly after its publication, based on the underlying citation network.
BIP!Impulse provided by BIP!
130
Top 1%
Top 10%
Top 1%
bronze