Functional variomics and network perturbation: Connecting genotype to phenotype in cancer

Song Yi, Shengda Lin, Yongsheng Li, Wei Zhao, Gordon B. Mills, Nidhi Sahni

Research output: Contribution to journalReview articlepeer-review

61 Scopus citations


Proteins interact with other macromolecules in complex cellular networks for signal transduction and biological function. In cancer, genetic aberrations have been traditionally thought to disrupt the entire gene function. It has been increasingly appreciated that each mutation of a gene could have a subtle but unique effect on protein function or network rewiring, contributing to diverse phenotypic consequences across cancer patient populations. In this Review, we discuss the current understanding of cancer genetic variants, including the broad spectrum of mutation classes and the wide range of mechanistic effects on gene function in the context of signalling networks. We highlight recent advances in computational and experimental strategies to study the diverse functional and phenotypic consequences of mutations at the base-pair resolution. Such information is crucial to understanding the complex pleiotropic effect of cancer genes and provides a possible link between genotype and phenotype in cancer.

Original languageEnglish (US)
Pages (from-to)395-410
Number of pages16
JournalNature Reviews Genetics
Issue number7
StatePublished - Jul 1 2017
Externally publishedYes

ASJC Scopus subject areas

  • Molecular Biology
  • Genetics
  • Genetics(clinical)


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