Proteogenomics connects somatic mutations to signalling in breast cancer

Nature. 2016 Jun 2;534(7605):55-62. doi: 10.1038/nature18003. Epub 2016 May 25.

Abstract

Somatic mutations have been extensively characterized in breast cancer, but the effects of these genetic alterations on the proteomic landscape remain poorly understood. Here we describe quantitative mass-spectrometry-based proteomic and phosphoproteomic analyses of 105 genomically annotated breast cancers, of which 77 provided high-quality data. Integrated analyses provided insights into the somatic cancer genome including the consequences of chromosomal loss, such as the 5q deletion characteristic of basal-like breast cancer. Interrogation of the 5q trans-effects against the Library of Integrated Network-based Cellular Signatures, connected loss of CETN3 and SKP1 to elevated expression of epidermal growth factor receptor (EGFR), and SKP1 loss also to increased SRC tyrosine kinase. Global proteomic data confirmed a stromal-enriched group of proteins in addition to basal and luminal clusters, and pathway analysis of the phosphoproteome identified a G-protein-coupled receptor cluster that was not readily identified at the mRNA level. In addition to ERBB2, other amplicon-associated highly phosphorylated kinases were identified, including CDK12, PAK1, PTK2, RIPK2 and TLK2. We demonstrate that proteogenomic analysis of breast cancer elucidates the functional consequences of somatic mutations, narrows candidate nominations for driver genes within large deletions and amplified regions, and identifies therapeutic targets.

Publication types

  • Research Support, N.I.H., Extramural

MeSH terms

  • Breast Neoplasms / classification
  • Breast Neoplasms / enzymology
  • Breast Neoplasms / genetics*
  • Breast Neoplasms / metabolism*
  • Calcium-Binding Proteins / deficiency
  • Calcium-Binding Proteins / genetics
  • Chromosome Deletion
  • Chromosomes, Human, Pair 5 / genetics
  • Class I Phosphatidylinositol 3-Kinases
  • Cyclin-Dependent Kinases / genetics
  • Cyclin-Dependent Kinases / metabolism
  • Erb-b2 Receptor Tyrosine Kinases / genetics
  • Erb-b2 Receptor Tyrosine Kinases / metabolism
  • ErbB Receptors / genetics
  • ErbB Receptors / metabolism
  • Female
  • Focal Adhesion Kinase 1 / genetics
  • Focal Adhesion Kinase 1 / metabolism
  • Gene Expression Regulation, Neoplastic
  • Genomics*
  • Humans
  • Mass Spectrometry
  • Molecular Sequence Annotation
  • Mutation / genetics*
  • Phosphatidylinositol 3-Kinases / genetics
  • Phosphoproteins / analysis
  • Phosphoproteins / genetics
  • Phosphoproteins / metabolism
  • Protein Kinases / genetics
  • Protein Kinases / metabolism
  • Proteomics*
  • Receptor-Interacting Protein Serine-Threonine Kinase 2 / genetics
  • Receptor-Interacting Protein Serine-Threonine Kinase 2 / metabolism
  • Receptors, G-Protein-Coupled / genetics
  • Receptors, G-Protein-Coupled / metabolism
  • S-Phase Kinase-Associated Proteins / genetics
  • S-Phase Kinase-Associated Proteins / metabolism
  • Signal Transduction*
  • Tumor Suppressor Protein p53 / genetics
  • p21-Activated Kinases / genetics
  • p21-Activated Kinases / metabolism
  • src-Family Kinases / genetics
  • src-Family Kinases / metabolism

Substances

  • Calcium-Binding Proteins
  • Class I Phosphatidylinositol 3-Kinases
  • Cyclin-Dependent Kinases
  • ErbB Receptors
  • Focal Adhesion Kinase 1
  • Phosphatidylinositol 3-Kinases
  • Phosphoproteins
  • Protein Kinases
  • Erb-b2 Receptor Tyrosine Kinases
  • Receptor-Interacting Protein Serine-Threonine Kinase 2
  • Receptors, G-Protein-Coupled
  • S-Phase Kinase-Associated Proteins
  • Tumor Suppressor Protein p53
  • p21-Activated Kinases
  • src-Family Kinases
  • CETN3 protein, human
  • SKP1 protein, human
  • TP53 protein, human
  • protein kinase U
  • PIK3CA protein, human
  • EGFR protein, human
  • ERBB2 protein, human
  • PTK2 protein, human
  • PAK1 protein, human
  • RIPK2 protein, human
  • CDK12 protein, human