New genes linked to the risk of pancreatic cancer pave the way for future early detection programmes

Pancreatic cancer remains one of the major challenges in oncology. This is not only because of its aggressiveness, but also because in many cases it is detected late, when treatment options are more limited. For this reason, any breakthrough that helps to identify those at highest risk at an earlier stage is of particular interest to biomedical research.

A study led by the Spanish National Cancer Research Centre, published in Nature Communications, has identified two genes associated with an increased risk of developing pancreatic ductal adenocarcinoma, the most common type of this tumour.

The genes identified, FCN1 and PLAT, form part of the complement system, an innate defence mechanism of the body. According to the CNIO, when these genes are mutated, they may contribute to an increased susceptibility to developing the disease.

The significance of this finding lies in its potential future applications. It is not an immediate diagnostic test, nor is it a tool that will be used in clinical practice tomorrow. However, it can help to better identify which individuals might benefit from screening or early detection programmes, which is particularly important in the case of a tumour that is often diagnosed at an advanced stage.

The study also provides insights into the immune response in pancreatic cancer. The team has observed that certain groups of genes within the complement system are linked to the presence of different types of immune cells within the tumour. Some of these cells are associated with improved survival; others, with the opposite outcome.

This point is interesting because pancreatic cancer is considered a ‘cold’ tumour, meaning it is largely invisible to the immune system and responds poorly to immunotherapies, which have otherwise transformed the treatment of other tumours. A better understanding of the relationship between genes, the immune system and the tumour microenvironment could open up new avenues of research.

In parallel, another study by the CNIO has developed a classifier for subtypes of pancreatic cancer, published in Genome Medicine. The tool integrates various existing models and enables tumours to be classified using RNA sequencing data. The aim is to improve our understanding of the heterogeneity of pancreatic cancer and to move towards treatments that are better tailored to the profile of each tumour.

Both studies point in the same direction: to gain a better understanding of the biology of pancreatic cancer in order to diagnose it earlier, better stratify patients and design more precise treatment strategies.

There is still some way to go before it can be applied in clinical practice, but the research provides important insights into a tumour where every advance counts.

Sources

CNIO — CNIO research identifies new genes that increase the risk of pancreatic cancer:
https://www.cnio.es/noticias/una-investigacion-del-cnio-halla-nuevos-genes-que-predisponen-al-cancer-de-pancreas/

Reference article

Langtry, A., Rabadan, R., Alonso, L. et al. Deciphering the role of complement system genes in pancreatic cancer susceptibility and prognosis. Nat Commun 16, 10769 (2025). DOI: https://doi.org/10.1038/s41467-025-65811-y – Villoslada-Blanco, P., Alonso, L., Sabroso-Lasa, S. et al. Development of a consensus molecular classifier for pancreatic ductal adenocarcinoma. Genome Med 17, 142 (2025). DOI: https://doi.org/10.1186/s13073-025-01568-9