Journal article
The somatic mutation profiles of 2,433 breast cancers refines their genomic and transcriptomic landscapes
B Pereira, SF Chin, OM Rueda, HKM Vollan, E Provenzano, HA Bardwell, M Pugh, L Jones, R Russell, SJ Sammut, DWY Tsui, B Liu, SJ Dawson, J Abraham, H Northen, JF Peden, A Mukherjee, G Turashvili, AR Green, S McKinney Show all
Nature Communications | NATURE PUBLISHING GROUP | Published : 2016
DOI: 10.1038/ncomms11479
Abstract
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 o..
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Grants
Awarded by CRUK
Funding Acknowledgements
The METABRIC project was funded by Cancer Research UK, the British Columbia Cancer Foundation and Canadian Breast Cancer Foundation BC/Yukon. This sequencing project was funded by CRUK grant C507/A16278 and Illumina UK performed all the sequencing. We also acknowledge the support of the University of Cambridge, Hutchinson Whampoa, the NIHR Cambridge Biomedical Research Centre, the Cambridge Experimental Cancer Medicine Centre, the Centre for Translational Genomics (CTAG) Vancouver and the BCCA Breast Cancer Outcomes Unit. We thank the Genomics, Histopathology and Biorepository Core Facilities at the Cancer Research UK Cambridge Institute, and the Addenbrooke's Human Research Tissue Bank (supported by the National Institute for Health Research Cambridge Biomedical Research Centre). We thank all the patients who donated tissue and the associated pseudo-anonymized clinical data for this project.