ArticlePloS one2013
Classifications within molecular subtypes enables identification of BRCA1/BRCA2 mutation carriers by RNA tumor profiling.
Article in PloS one, 2013. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 64 papers, 1 of them a synthesis that pooled it.
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Who cites it
64 citing papers in PubMed, 1 synthesis or guideline pooled it, 116 citations in OpenAlex.
- A Systematic Review and Meta-Analysis of the Metal Nano-Particles Loaded with Herbal Drugs Moieties Against Breast Cancer.Recent patents on nanotechnology · 2025Pooled it
- Real-world clinical outcomes of patients with early-stage TNBC and BRCAm who were treated with adjuvant capecitabine in the United States.Breast cancer research and treatment · 2026Observational
- Altered Estrogen Receptor Signaling Pathway in BRCA2-Deficient Estrogen Receptor-Positive/HER2-Negative Breast Cancer.Cancer reports (Hoboken, N.J.) · 2026Article
- GermlineCancers · 2026Article
- Risk of Breast and Ovarian Cancer After Prophylactic Mastectomy and Salpingo-Oophorectomy in BRCA1/2 Germline Variant Carriers: A Retrospective Cohort Study From a Single German Center.Cancer medicine · 2026Article
- Clinicopathological characteristics of BRCA1-associated breast carcinoma patients in Kazakhstan.Discover oncology · 2025Article
- Poly(ADP-ribose) polymerase-1 in breast cancers: expression level and its association in various molecular subtypes with a focus in Africa.Discover oncology · 2025Review
- Germline Testing in Breast Cancer: A Single-Center Analysis Comparing Strengths and Challenges of Different Approaches.Cancers · 2025Article
- Signaling pathway dysregulation in breast cancer.Oncotarget · 2025Review
- Early breast cancer in youngTherapeutic advances in medical oncology · 2025Review
- Public neoantigens in breast cancer immunotherapy (Review).International journal of molecular medicine · 2024Review
- Article
- Mapping the function of MicroRNAs as a critical regulator of tumor-immune cell communication in breast cancer and potential treatment strategies.Frontiers in cell and developmental biology · 2024Review
- Article
- Homologous Recombination Deficiency Across Subtypes of Primary Breast Cancer.JCO precision oncology · 2023Article
- A transcriptional response to replication stress selectively expands a subset of Brca2-mutant mammary epithelial cells.Nature communications · 2023Article
- Non-BRCA1/BRCA2 high-risk familial breast cancers are not associated with a high prevalence of BRCAness.Breast cancer research : BCR · 2023Article
- Development of a novel BRCAness score that predicts response to PARP inhibitors.Biomarker research · 2022Article
- Targeted Sequencing of Germline Breast Cancer Susceptibility Genes for Discovering Pathogenic/Likely Pathogenic Variants in the Jakarta Population.Diagnostics (Basel, Switzerland) · 2022Article
- A human breast atlas integrating single-cell proteomics and transcriptomics.Developmental cell · 2022Article
4 more citing papers are in PubMed but not listed here.
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Authors and funding
11 authors at 6 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Pathogenic germline mutations in BRCA1 or BRCA2 are detected in less than one third of families with a strong history of breast cancer. It is therefore expected that mutations still remain undetected by currently used screening methods. In addition, a growing number of BRCA1/2 sequence variants of unclear pathogen significance are found in the families, constituting an increasing clinical challenge. New methods are therefore needed to improve the detection rate and aid the interpretation of the clinically uncertain variants. In this study we analyzed a series of 33 BRCA1, 22 BRCA2, and 128 sporadic tumors by RNA profiling to investigate the classification potential of RNA profiles to predict BRCA1/2 mutation status. We found that breast tumors from BRCA1 and BRCA2 mutation carriers display characteristic RNA expression patterns, allowing them to be distinguished from sporadic tumors. The majority of BRCA1 tumors were basal-like while BRCA2 tumors were mainly luminal B. Using RNA profiles, we were able to distinguish BRCA1 tumors from sporadic tumors among basal-like tumors with 83% accuracy and BRCA2 from sporadic tumors among luminal B tumors with 89% accuracy. Furthermore, subtype-specific BRCA1/2 gene signatures were successfully validated in two independent data sets with high accuracies. Although additional validation studies are required, indication of BRCA1/2 involvement ("BRCAness") by RNA profiling could potentially be valuable as a tool for distinguishing pathogenic mutations from benign variants, for identification of undetected mutation carriers, and for selecting patients sensitive to new therapeutics such as PARP inhibitors.
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