Researchers Identify Genes Linked to Pancreatic Cancer Risk

A recent study from the National Cancer Research Center (CNIO) has identified several sets of genes associated with an individual’s predisposition to pancreatic ductal adenocarcinoma, the most prevalent type of pancreatic cancer. Published in Nature Communications, this research marks a significant advancement in understanding the genetic factors that contribute to both the susceptibility and prognosis of this aggressive cancer.

The study, led by Núria Malats and Evangelina López de Maturana from the Epidemiology and Molecular Genetics Group at CNIO, addresses a critical challenge in pancreatic cancer: early diagnosis. High mortality rates are linked to late-stage detection, making the development of effective screening programs essential for improving outcomes.

A key finding indicates that mutations in two specific genes within the complement system—FCN1 and PLAT—may significantly increase the likelihood of developing pancreatic cancer. The first author of the study, Alberto Langtry, who is currently affiliated with Columbia University, emphasizes that these genes could serve as valuable biomarkers for identifying high-risk populations. Individuals exhibiting these genetic markers may be candidates for monitoring programs that can lead to earlier diagnosis and intervention.

Implications for Treatment and Monitoring

The complement system, which plays a role in the body’s innate defense mechanisms, has been linked to cancer in very few studies so far. This research reveals that disruptions in complement proteins can potentially contribute to disease development. Identifying those at higher risk of pancreatic cancer is crucial, and the CNIO study is a significant step in that direction, as noted by the authors.

Moreover, the research delves into the immune response in pancreatic cancer. It points out that genes within the complement system influence the behavior of two types of immune cells: defender cells that enhance cancer survival and regulatory cells that suppress immune activity. Understanding how these genes affect immune cell infiltration in tumors may lead to novel treatment approaches.

Pancreatic cancer is often referred to as a “cold” cancer because it evades detection by the immune system. This characteristic complicates treatment, as the cancer is not recognized and attacked by immune cells. According to Núria Malats, the insights gained from this study could pave the way for new immunotherapies that target the identified genes, potentially improving the effectiveness of treatment for patients.

This groundbreaking study highlights the importance of genetic research in the fight against pancreatic cancer, offering hope for better diagnostic and therapeutic strategies in the future. As researchers continue to explore the relationship between the complement system and pancreatic cancer, the potential for significant advancements in early diagnosis and treatment remains promising.

The findings are detailed in the article titled “Deciphering the role of complement system genes in pancreatic cancer susceptibility and prognosis,” available in Nature Communications, DOI: 10.1038/s41467-025-65811-y.