ArticleNature communications2016
The somatic mutation profiles of 2,433 breast cancers refines their genomic and transcriptomic landscapes.
Article in Nature communications, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. An erratum has been issued. Cited by 1,158 papers, 1 of them a synthesis that pooled it.
What it found
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The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
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Who cites it
1,158 citing papers in PubMed, 1 synthesis or guideline pooled it, 1,777 citations in OpenAlex.
- Somatic mutations in Middle East and North Africa breast cancer patients: a systematic review.The oncologist · 2025Pooled it
- Precision neoadjuvant treatment with AI-assisted subtyping in HR+/HER2-breast cancer: A randomized, phase 2 trial FASCINATE-N.Cell reports. Medicine · 2026Trial
- Exploratory Analysis of PTEN Deficiency by Immunohistochemistry from the Phase III CAPItello-291 Trial.Clinical cancer research : an official journal of the American Association for Cancer Research · 2026Trial
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- An Annotated Biobank of Triple-Negative Breast Cancer Patient-Derived Xenografts Features Treatment-Naïve and Longitudinal Samples during Neoadjuvant Chemotherapy.Cancer research · 2025Trial
- Capivasertib plus fulvestrant in patients with HR-positive/HER2-negative advanced breast cancer: phase 3 CAPItello-291 study extended Chinese cohort.Nature communications · 2025Trial
- Prognostic Significance of p53 Immunohistochemical Expression and Molecular Characterization of TP53 Variants in Triple-Negative Breast Cancer After Neoadjuvant Chemotherapy.Diagnostics (Basel, Switzerland) · 2026Article
- Targeting the Chromatin-Modifying Enzyme, KDM5C, Enhances AKT Inhibition Response in ER+ Breast Cancer.Molecular cancer therapeutics · 2026Article
- Toward targeted therapeutics for lobular breast cancer.The Journal of clinical investigation · 2026Review
- Integrated Spatial and Bulk Transcriptomic Analysis Identifies a Multicellular Ecosystem Involved in Progression of Young Breast Cancer.Cancer medicine · 2026Article
- The immunology of human breast cancer.Nature reviews. Immunology · 2026Review
- AGO Breast Panel Recommendations for the use of treatment-relevant biomarkers in early and advanced breast cancer-2026 Update.Breast (Edinburgh, Scotland) · 2026Review
- Impact of Trastuzumab and Pertuzumab on HER2 Localization and the Estrogen Receptor Cistrome in ER+/HER2+ Breast Cancer.bioRxiv : the preprint server for biology · 2026Article
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- Integrin α3Cancer pathogenesis and therapy · 2026Article
- Dual Role of Tamoxifen in Enhancing STING and CEACAM1 Expression to Prime a Favorable Tumor Microenvironment for Anti-TIM3 Immunotherapy.Advanced science (Weinheim, Baden-Wurttemberg, Germany) · 2026Article
- Insulin receptor substrate 2 (IRS2) confers resistance to PI3K pathway inhibition in PIK3CA mutant breast cancer.The Journal of biological chemistry · 2026Article
- A chromatin-informed transcriptional regulatory framework to stratify patients and guide therapy selection in triple-negative breast cancer.Nature communications · 2026Article
- Invasive lobular breast cancer in young patients without adjuvant systemic treatment: 15-year survival outcomes.Breast cancer research and treatment · 2026Article
- Article
1,098 more citing papers are in PubMed but not listed here.
Corrections and comments
- Erratum issued
Authors and funding
34 authors at 9 institutions in 4 countries.
Funding
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 of ER-positive cancer (defined by amplification of 17q23, 11q13-14 or 8q24). High levels of intra-tumour heterogeneity are in general associated with a worse outcome, but highly aggressive tumours with 11q13-14 amplification have low levels of intra-tumour heterogeneity. These results emphasize the importance of genome-based stratification of breast cancer, and have important implications for designing therapeutic strategies.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.