Need Help?

METABRIC: Data from Pereira et al (2016), The somatic mutation profiles of 2433 breast cancers refine their genomic and transcriptomic landscapes. Nat Comms 7.

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 2433 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 intratumour heterogeneity using mutant allele fractions. Associations between PIK3CA mutations and reduced survival are identified in three subgroups of ER-positive cancer (defined by amplification of 17q23, 11q13-14 or 8q24). High levels of intratumour heterogeneity are in general associated with worse outcome, but highly aggressive tumours with 11q13-14 amplification have low levels of intratumour heterogeneity. These results emphasise the importance of genome-based stratification of breast cancer, and have important implications for designing therapeutic strategies.

Click on a Dataset ID in the table below to learn more, and to find out who to contact about access to these data

Dataset ID Description Technology Samples
EGAD00001002115 3083
Publications Citations
The somatic mutation profiles of 2,433 breast cancers refines their genomic and transcriptomic landscapes.
Nat Commun 7: 2016 11479
High Densities of Tumor-Associated Plasma Cells Predict Improved Prognosis in Triple Negative Breast Cancer.
Front Immunol 9: 2018 1209
A subgroup of microRNAs defines PTEN-deficient, triple-negative breast cancer patients with poorest prognosis and alterations in RB1, MYC, and Wnt signaling.
Breast Cancer Res 21: 2019 18
Prognostic value of CD8 + PD-1+ immune infiltrates and PDCD1 gene expression in triple negative breast cancer.
J Immunother Cancer 7: 2019 34
Enhanced hexosamine metabolism drives metabolic and signaling networks involving hyaluronan production and O-GlcNAcylation to exacerbate breast cancer.
Cell Death Dis 10: 2019 803
Molecular stratification within triple-negative breast cancer subtypes.
Sci Rep 9: 2019 19107
Copper depletion modulates mitochondrial oxidative phosphorylation to impair triple negative breast cancer metastasis.
Nat Commun 12: 2021 7311
Spectrum of <i>MAP3K1</i> mutations in breast cancer is luminal subtype-predominant and related to prognosis.
Oncol Lett 23: 2022 68
Breast tumor microenvironment structures are associated with genomic features and clinical outcome.
Nat Genet 54: 2022 660-669
Allelic expression imbalance of PIK3CA mutations is frequent in breast cancer and prognostically significant.
NPJ Breast Cancer 8: 2022 71
ABL kinases regulate translation in HER2+ cells through Y-box-binding protein 1 to facilitate colonization of the brain.
Cell Rep 40: 2022 111268
Turning up a new pattern: Identification of cancer-associated fibroblast-related clusters in TNBC.
Front Immunol 13: 2022 1022147
Distinct shared and compartment-enriched oncogenic networks drive primary versus metastatic breast cancer.
Nat Commun 14: 2023 4313
Multi-omics analyses unravel DNA damage repair-related clusters in breast cancer with experimental validation.
Front Immunol 14: 2023 1297180