The somatic mutation profiles of 2,433 breast cancers refine their genomic and transcriptomic landscapes

The genomic landscape of breast cancer is complex, and inter- and intra-tumour heterogeneity are important challenges in treating the disease. In this study, we sequence 173 genes in 2,433 primary breast tumours that have copy number aberration (CNA), gene expression and long-term clinical follow-up data. We identify 40 mutation-driver (Mut-driver) genes, and determine associations between mutations, driver CNA profiles, clinical-pathological parameters and survival. We assess the clonal states of Mut-driver mutations, and estimate levels of intra-tumour heterogeneity using mutant-allele fractions. Associations between PIK3CA mutations and reduced survival are identified in three subgroups of ER-positive…

• CR
  Cancer Research UK
• NI
  National Institute for Health and Care Research
• UO
  University of Cambridge
• BC
  BC Cancer Agency
• NC
  NIHR Cambridge Biomedical Research Centre
• CR
  Cancer Research UK Cambridge Institute, University of Cambridge