- In collaboration with the Clínic Barcelona Campus, REVEAL GENOMICS has identified a unique link between B-cell and T-cell immune infiltration and improved survival in breast cancer survivors.
- These B-cell and T-cell immune genes are already incorporated into REVEAL GENOMICS' HER2DX and TNBCDX genomic tests, demonstrating their value in clinical decision-making for HER2-positive and triple-negative breast cancer.
- This discovery opens new avenues for understanding immune health and its role in long-term outcomes, paving the way for the development of personalized strategies and interventions to enhance patient care.
REVEAL GENOMICS, S.L., a Barcelona-based biotechnology start-up seeking to revolutionize precision oncology through biomarker innovation, has unveiled groundbreaking research that highlights a significant, previously unrecognized link between an anti-tumor adaptive immune response and improved survival outcomes in individuals who have apparently overcome breast cancer.
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Microscopic image of tissue showing breast cancer cells in green and CD45-positive immune cells in red, highlighting their interaction in the tumor microenvironment. (Photo: Business Wire)
This study highlights the clinical value of REVEAL GENOMICS' immune gene combinations, which identify key immune cells such as B-cells and T-cells linked to recurrence, metastasis, and treatment response in HER2-positive (HER2+) and triple-negative breast cancer (TNBC). The findings show that the immune signature correlates with reduced mortality in breast cancer survivors, regardless of age or type of breast cancer, advancing our understanding of survivorship.
Immune Genes: Key to Longevity in Early Breast Cancer
The study1 investigated the association between immune genes in tumor samples and overall survival (OS) in patients with early-stage breast cancer who have not experienced a relapse, termed as "longevity." Analyzing comprehensive gene expression and clinical data from 9,638 patients across three distinct cohorts, a significant association was observed between immune expression and OS in patients without a documented relapse, independently of cancer subtype, tumor stage, or nodal status. Overall, patients with high immune tumors, characterized by significant immune system activity within its microenvironment, experienced a 41-47% reduction in mortality risk compared to low immune tumors. Importantly, prognostic tests, which are focused on tumor-cell features, did not show this association with longevity.
As Prof. Aleix Prat, cofounder and CSO of REVEAL GENOMICS, explains, "Previous studies had demonstrated a very strong association between the immune signature and mortality, which we initially attributed to its ability to detect metastatic recurrences. We now know that while this is true, the immune signature also captures something much deeper-an intrinsic link to longevity in patients who have not relapsed. This finding opens new doors to understanding immune health and its role in long-term cancer outcomes.
Immune Signature and Longevity in Other Cancer Types
Analyses of the pan-cancer TCGA dataset reveal an association between the immune signature and overall survival in cervical cancer, head and neck cancer, lung adenocarcinoma, sarcoma, and melanoma. This study confirms that, as in breast cancer, the immune signature's link to longevity is independent of cancer relapse and is particularly strong in melanoma.
Link to REVEAL GENOMICS HER2DX and TNBCDX Tests
This discovery aligns with REVEAL GENOMICS' mission to innovate precision oncology using sophisticated genomic tools. The HER2DX and TNBCDX genomic tests, developed by the company, incorporate the immune signature and/or related genes to predict outcomes for patients with HER2-positive and triple-negative breast cancer. By integrating these immune signatures, HER2DX and TNBCDX provide oncologists with powerful tools to tailor treatments more effectively and improve survival rates in breast cancer.
Opportunities for New Diagnostic Tools
Building on these findings, REVEAL GENOMICS sees an opportunity to develop a new diagnostic tool specifically designed to assess the anti-tumor adaptive immune response in patients with early-stage breast cancer. This potential tool could help identify patients with a stronger immune-mediated protective effect, offering a novel method for stratifying risk and personalizing treatment strategies beyond breast cancer. By focusing on the immune system's fitness during cancer development, this approach could lead to more effective, individualized therapies and better long-term outcomes for cancer survivors.
As Patricia Villagrasa, cofounder and CEO of REVEAL GENOMICS, explains, "These findings unlock new possibilities for precision oncology and personalized medicine. Breast cancer offers a unique lens into a patient's immune system function." Villagrasa adds, "By uncovering the interplay between the immune system and breast cancer, we can enhance diagnostic tools to predict outcomes and assess overall health. At REVEAL GENOMICS, our mission is to transform these insights into cutting-edge diagnostics that make a meaningful difference for patients worldwide.
Ongoing collaboration with OMNISCOPE
For this study, REVEAL GENOMICS collaborated with OMNISCOPE (Barcelona, Spain), who performed single-cell CD45+ sequencing from tumor samples. This advanced analysis allowed for a more detailed characterization of the immune signature at cellular level, offering deeper insights into the composition and role of various immune cells in the tumor microenvironment and enhancing the understanding of HER2DX and TNBCDXs impact on patient outcomes. Both companies are currently pursuing the possibility of tracking these immune features in blood, which could further enhance non-invasive monitoring and personalized treatment strategies.
About the HER2DX and TNBCDX tests
HER2DX is the world's first diagnostic test formulated specifically for HER2+ breast cancer. Marketed by REVEAL GENOMICS since January 2022, HER2DX is a standardized 27-gene expression test for patients with early-stage HER2+ breast cancer.
HER2DX is a prognostic, predictive test based on clinical and genomic data. The test integrates clinical information (i.e. tumor size and nodal status) with biological information tracking immune response, luminal differentiation, tumor cell proliferation, and expression of the HER2 17q12-21 chromosomal amplicon, including the ERBB2 gene.
HER2DX predicts:
- Risk of relapse score (high vs. low): risk of recurrence in patients with newly diagnosed HER2+ breast cancer.
- pCR likelihood score (high vs. medium vs. low): likelihood of a patient responding to anti-HER2-based treatment before surgery.
- ERBB2 score (high vs. medium vs. low): quantitative expression of ERBB2 mRNA across HER2-negative, HER2-low and HER2+ breast cancer.
TNBCDX is the first genomic test designed specifically for patients with early-stage Triple Negative Breast Cancer (TNBC). The test integrates clinical variables with key tumor and immune biological factors across 15 genes to provide a comprehensive risk assessment, guiding treatment decisions in a clinical setting. TNBCDX includes two scores: a risk score and a pCR (pathological complete response) likelihood score. Additionally, the test measures the levels of ERBB2 to ensure that the tumor is accurately classified as TNBC. TNBCDX is currently available in a Research Use Only (RUO) format. The company is currently standardizing the test, with plans to offer it through the Biomedical Diagnostic Center at Hospital Clínic (Barcelona) by 2025.
About Breast Cancer
Breast cancer is the most common cancer among women, with over 2.3 million new cases diagnosed annually, reflecting its clinical and biological heterogeneity. HER2+ and TNBC are two aggressive subtypes, accounting for 15-20% and 10-15% of cases, respectively. Together, these subtypes account for up to one-third of all breast cancer diagnoses. REVEAL GENOMICS has developed HER2DX and TNBCDX to address this heterogeneity, offering genomic insights to predict prognosis, treatment response, and recurrence risk in these specific subtypes. REVEAL GENOMICS' groundbreaking discovery now links an anti-tumor adaptive immune response to reduced mortality across all breast cancer subtypes, independent of age or subtype, further advancing precision oncology for all patients.
About REVEAL GENOMICS
REVEAL GENOMICS, S.L. is a biotechnology start-up seeking to change the way biomarkers are used in oncology. It is focused on developing innovative diagnostic tools to define the best therapeutic options for patients with cancer. The company uses pioneering techniques, sophisticated computer applications, and machine learning to reveal new cancer research data.
REVEAL GENOMICS, S.L. is a spin-off of Hospital Clínic de Barcelona, IDIBAPS, the University of Barcelona (U.B.), and the Vall d'Hebron Institute of Oncology (VHIO).
REVEAL GENOMICS, HER2DX and TNBCDX are registered trademarks of REVEAL GENOMICS, S.L.
For more information, visit www.reveal-genomics.com or follow us on LinkedIn and X @revealgenomics.
References
1. Angelats L: Linking Tumor Immune Infiltration to Enhanced Longevity in Recurrence-Free Breast Cancer. ESMO Open, 2025 In Press https://www.esmoopen.com/article/S2059-7029(24)01880-5/fulltext
View source version on businesswire.com: https://www.businesswire.com/news/home/20250113550128/en/
Contacts:
Adriana Herrera, aherrera@reveal-genomics.com
