ArticleBreast cancer research : BCR2010
Genomic subtypes of breast cancer identified by array-comparative genomic hybridization display distinct molecular and clinical characteristics.
Article in Breast cancer research : BCR, 2010. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 103 papers, 2 of them syntheses that pooled it.
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Who cites it
103 citing papers in PubMed, 2 syntheses or guidelines pooled it, 194 citations in OpenAlex.
- Pooled it
- A meta-analysis of multiple matched copy number and transcriptomics data sets for inferring gene regulatory relationships.PloS one · 2014Pooled it
- Identifying and Targeting Key Driver Genes for Collagen Production within the 11q13/14 Breast Cancer Amplicon.Molecular cancer research : MCR · 2025Article
- Copy number variation heterogeneity reveals biological inconsistency in hierarchical cancer classifications.Molecular cytogenetics · 2024Article
- Kataegis in clinical and molecular subgroups of primary breast cancer.NPJ breast cancer · 2024Article
- Clinicopathological analysis of 38 male patients diagnosed with breast cancer.Breast disease · 2024Article
- Estrogen receptor-positive breast cancer and adverse outcome in BRCA2 mutation carriers and young non-carrier patients.NPJ breast cancer · 2023Article
- Whole exome sequencing identifies novel variants of PIK3CA and validation of hotspot mutation by droplet digital PCR in breast cancer among Indian population.Cancer cell international · 2023Article
- Proteomic Profile Distinguishes New Subpopulations of Breast Cancer Patients with Different Survival Outcomes.Cancers · 2023Article
- AKTIP loss is enriched in ERα-positive breast cancer for tumorigenesis and confers endocrine resistance.Cell reports · 2022Article
- NETWORK DIFFERENTIAL CONNECTIVITY ANALYSIS.The annals of applied statistics · 2022Article
- Article
- Landscape ofAnnals of translational medicine · 2022Article
- miR-139-5p Was Identified as Biomarker of Different Molecular Subtypes of Breast Carcinoma.Frontiers in oncology · 2022Article
- Identification of the c.829_832delAATA Deletion Variants in theJournal of genomics · 2022Article
- TEM8 marks neovasculogenic tumor-initiating cells in triple-negative breast cancer.Nature communications · 2021Article
- Chaperonin-Containing TCP1 Complex (CCT) Promotes Breast Cancer Growth Through Correlations With Key Cell Cycle Regulators.Frontiers in oncology · 2021Article
- Hsa-miR-21-3p associates with breast cancer patient survival and targets genes in tumor suppressive pathways.PloS one · 2021Article
- Evolving insights: how DNA repair pathways impact cancer evolution.Cancer biology & medicine · 2020Review
- Association of Sperm-Associated Antigen 5 and Treatment Response in Patients With Estrogen Receptor-Positive Breast Cancer.JAMA network open · 2020Article
43 more citing papers are in PubMed but not listed here.
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Authors and funding
23 authors at 3 institutions in 3 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
introductionBreast cancer is a profoundly heterogeneous disease with respect to biologic and clinical behavior. Gene-expression profiling has been used to dissect this complexity and to stratify tumors into intrinsic gene-expression subtypes, associated with distinct biology, patient outcome, and genomic alterations. Additionally, breast tumors occurring in individuals with germline BRCA1 or BRCA2 mutations typically fall into distinct subtypes.
methodsWe applied global DNA copy number and gene-expression profiling in 359 breast tumors. All tumors were classified according to intrinsic gene-expression subtypes and included cases from genetically predisposed women. The Genomic Identification of Significant Targets in Cancer (GISTIC) algorithm was used to identify significant DNA copy-number aberrations and genomic subgroups of breast cancer.
resultsWe identified 31 genomic regions that were highly amplified in > 1% of the 359 breast tumors. Several amplicons were found to co-occur, the 8p12 and 11q13.3 regions being the most frequent combination besides amplicons on the same chromosomal arm. Unsupervised hierarchical clustering with 133 significant GISTIC regions revealed six genomic subtypes, termed 17q12, basal-complex, luminal-simple, luminal-complex, amplifier, and mixed subtypes. Four of them had striking similarity to intrinsic gene-expression subtypes and showed associations to conventional tumor biomarkers and clinical outcome. However, luminal A-classified tumors were distributed in two main genomic subtypes, luminal-simple and luminal-complex, the former group having a better prognosis, whereas the latter group included also luminal B and the majority of BRCA2-mutated tumors. The basal-complex subtype displayed extensive genomic homogeneity and harbored the majority of BRCA1-mutated tumors. The 17q12 subtype comprised mostly HER2-amplified and HER2-enriched subtype tumors and had the worst prognosis. The amplifier and mixed subtypes contained tumors from all gene-expression subtypes, the former being enriched for 8p12-amplified cases, whereas the mixed subtype included many tumors with predominantly DNA copy-number losses and poor prognosis.
conclusionsGlobal DNA copy-number analysis integrated with gene-expression data can be used to dissect the complexity of breast cancer. This revealed six genomic subtypes with different clinical behavior and a striking concordance to the intrinsic subtypes. These genomic subtypes may prove useful for understanding the mechanisms of tumor development and for prognostic and treatment prediction purposes.
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