Liquid biopsy to detect breast cancer relapse up to 5 years in advance

A start-up supported by the C3N-IA Science Park at Universidad Carlos III de Madrid (UC3M) and specialized in oncology, has developed a tool to monitor treatment response in patients with solid tumours from a simple blood sample.

This advance could represent a turning point in post-treatment follow-up. The study detailing the effectiveness of this system, recently published in the journal Breast Cancer Research, explains that although many patients with HR+ breast cancer (the most common subtype among women) initially respond well to therapy, up to 40% of them relapse over time. However, through the technology developed and the analysis of circulating tumour DNA (a type of tumour-derived DNA that can spread to the blood), the researchers have been able to anticipate the onset of clinical relapses up to 68 months before symptoms detectable by traditional methods become apparent.

Today, we can detect one cell in a million. In the future, it will be one in ten million
Marina Planas

“Our goal is not to diagnose cancer, but to provide physicians with an effective tool to monitor the evolution of the disease after treatment,” explains Joaquín Martínez-López, president of Altum Sequencing. “Current diagnostic tools have sensitivity limitations, which makes early detection of these relapses difficult, but thanks to NGS (next generation sequencing) DNA sequencing technology, we can detect one tumour cell among a million healthy cells from a simple blood sample,” he adds.

The methodology used to detect relapses so early begins with an initial tumour biopsy. Next, patient-specific mutations are identified. This is followed up by blood tests looking for traces of these mutations in circulating tumour DNA. "The advantage of our technology is that it is very minimally invasive, versatile and tailored to each tumour type. In addition, the cost is significantly reduced by focusing only on mutations relevant to each patient. This also allows us to avoid unnecessary treatments and minimizes the risk of false positives," adds Marina Planas, CEO of Altum Sequencing.

The potential of this approach goes beyond breast cancer, as the technology is applicable to any type of solid tumour. The researchers are therefore working to obtain the necessary regulatory approvals in both Europe and the United States with the aim of making this tool available in hospitals around the world. "We started with haematological cancers such as multiple myeloma and acute myeloid leukaemia, but we are already seeing good results in lung cancers as well, so our goal is to transform cancer monitoring. Today, we can detect one cell in a million. In the future, it will be one in ten million," concludes the CEO.

The company plans to advance the integration of emerging technologies with the implementation of generative artificial intelligence throughout this year. After incorporating machine learning algorithms into its processes, its goal now is to use this new technology to improve diagnostic accuracy, optimize the adaptation of treatments and provide more useful and personalized information to patients.

Altum Sequencing has been supported by the Centre for Innovation in Entrepreneurship and Artificial Intelligence (C3N-IA) at the UC3M Science Park, located in the Leganés Tecnológico Science, Technology and Business Park. It has also received support from the Community of Madrid, the Centre for Technological Development and Innovation (CDTI) and the European Regional Development Fund (FEDER, for its acronym in Spanish). The company also collaborates with the 12 de Octubre Hospital, the Gregorio Marañón Hospital, HM hospitals, the Hospital Regional de Málaga, and other research centres such as the CNIO, Universidad Complutense and IBIMA, which have coordinated the study from Málaga, thanks to its principal investigator, Iñaki Comino.

Source: Universidad Carlos III de Madrid

23.06.2025