Related Experiment Video
Updated: Dec 10, 2025

Optimization of a Multiplex RNA-based Expression Assay Using Breast Cancer Archival Material
Published on: August 1, 2018
Canonical ErbB-2 isoform and ErbB-2 variant c located in the nucleus drive triple negative breast cancer growth
María F Chervo1, Rosalía I Cordo Russo1, Ezequiel Petrillo2
1Laboratory of Molecular Mechanisms of Carcinogenesis and Molecular Endocrinology, Instituto de Biología y Medicina Experimental (IBYME), CONICET, Vuelta de Obligado 2490, C1428ADN, Buenos Aires, Argentina.
Abstract:
Triple negative breast cancer (TNBC) refers to tumors that do not express clinically significant levels of estrogen and progesterone receptors, and lack membrane overexpression or gene amplification of ErbB-2/HER2, a receptor tyrosine kinase. Transcriptome and proteome heterogeneity of TNBC poses a major challenge to precision medicine. Clinical biomarkers and targeted therapies for this disease remain elusive, so chemotherapy has been the standard of care for early and metastatic TNBC. Our present findings placed ErbB-2 in an unanticipated scenario: the nucleus of TNBC (NErbB-2). Our study on ErbB-2 alternative splicing events, using a PCR-sequencing approach combined with an RNA interference strategy, revealed that TNBC cells express either the canonical (wild-type) ErbB-2, encoded by transcript variant 1, or the non-canonical ErbB-2 isoform c, encoded by alternative variant 3 (RefSeq), or both. These ErbB-2 isoforms function in the nucleus as transcription factors. Evicting both from the nucleus or silencing isoform c only, blocks TN cell and tumor growth. This reveals not only NErbB-2 canonical and alternative isoforms role as targets of therapy in TNBC, but also isoform c dominant oncogenic potential. Furthermore, we validated our findings in the clinic and observed that NErbB-2 correlates with poor prognosis in primary TN tumors, disclosing NErbB-2 as a novel biomarker for TNBC. Our discoveries challenge the present scenario of drug development for personalized BC medicine that focuses on wild-type RefSeq proteins, which conserve the canonical domains and are located in their classical cellular compartments.
Insights
Triple negative breast cancer (TNBC) cells express ErbB-2 in the nucleus, acting as transcription factors. Targeting these nuclear ErbB-2 isoforms, especially isoform c, inhibits tumor growth and offers a novel biomarker for TNBC.
Area of Science:
- Oncology
- Molecular Biology
- Genetics
Background:
- Triple negative breast cancer (TNBC) lacks targeted therapies due to heterogeneity.
- Current TNBC treatment relies on chemotherapy, with limited biomarkers.
- ErbB-2/HER2 is typically a membrane receptor, not implicated in TNBC nuclei.
Purpose of the Study:
- To investigate the role of ErbB-2 in the nucleus of TNBC cells.
- To identify novel therapeutic targets and biomarkers for TNBC.
- To explore ErbB-2 alternative splicing in TNBC.
Main Methods:
- PCR-sequencing to analyze ErbB-2 alternative splicing.
- RNA interference to silence specific ErbB-2 isoforms.
- Clinical validation in primary TNBC tumors.
Main Results:
- ErbB-2 isoforms (canonical and alternative isoform c) were found to function as transcription factors in the TNBC nucleus (NErbB-2).
- Silencing NErbB-2 isoforms, particularly isoform c, significantly blocked TNBC cell and tumor growth.
- Nuclear NErbB-2 expression correlated with poor prognosis in primary TNBC tumors, identifying it as a novel biomarker.
Conclusions:
- Nuclear ErbB-2 isoforms represent potential therapeutic targets in TNBC.
- Alternative ErbB-2 isoform c exhibits dominant oncogenic potential in TNBC.
- NErbB-2 serves as a novel prognostic biomarker for TNBC, challenging current drug development paradigms.
More Related Videos
Related Concept Videos
Mitogens and the Cell Cycle
The Nucleolus
Cancer-Critical Genes II: Tumor Suppressor Genes
When the function of certain critical genes, especially those involved in cell cycle regulation and cell growth signaling cascades, gets disrupted, it upsets the cell cycle progression. Such cells with unchecked cell cycles start proliferating uncontrollably and eventually develop into tumors.
Such genes that act...
Negative Regulator Molecules
The Retinoblastoma Gene
The first-ever tumor suppressor gene called Rb was identified in retinoblastoma - a rare eye tumor in children. In inherited forms of the disease, a child inherits one defective copy of the Rb gene, which predisposes them to retinoblastoma. However,...
Transducer Mechanism: Nuclear Receptors
About 48 different soluble family members of nuclear receptors are identified that can be divided into two main classes:

