From the left: José Enrique León, Ángel Carracedo, Sonia Vidal ('la Caixa' Foundation), Pampa G. Molina, Fernándo Peláez (CNIO's acting scientific director), Mercedes Robledo, José Manuel Bernabé (CNIO's managing director), María Currás and Rosario Perona. / Laura M. Lombardía. CNIO.
There is a growing body of research on genetic variants that increase cancer risk. Thanks to the knowledge it generates, Familial Cancer Clinics within the healthcare system are already helping thousands of people go a step ahead of the disease.
The National Cancer Research Centre (CNIO) is dedicating its World Cancer Research Day event to this topic, with a series of public health talks taking place at CaixaForum Madrid.
In addition to Ángel Carracedo, Coordinator of IMPaCT Genomics, the participants include Rosario Perona, Deputy Director of ISCIII; José Enrique León, member of the CNIO Friends initiative; and CNIO researchers Mercedes Robledo and María Currás.
"Cancer screening programmes are going to change radically," says Carracedo. “In the future, anyone who wants to undergo screening at the age of 20 will be able to do so. If we can stay one step ahead of the disease, we can save so many lives.”
“We are a product of genes and our environment,” says the geneticist Ángel Carracedo. Cancer is also a result of the interaction between genes and environmental factors, but prevention is usually more associated with the latter: not smoking, avoiding unprotected sun exposure, and healthy eating. But nowadays, in 10% to 15% of tumours, genetics can already provide essential clues to stay one step ahead of cancer. These are the tumours where genetics carry particular weight, known as familial cancers.
Much of the current research is aimed at enabling these individuals with a high cancer risk to be aware of it and act accordingly. The National Cancer Research Centre (CNIO) dedicated today’s open day, marking World Cancer Research Day, to this topic. The event took place at CaixaForum Madrid, with the support of Fundación ‘la Caixa’.
As Carracedo explained, “a part of the genetic component [of cancer] is due to inherited mutations from the parents. These mutations mean that the genes involved do not function properly, which increases the chances of developing cancer.” As these variations are inherited, we talk about hereditary cancer, which accounts for 10% of breast, ovarian and colon cancer, for example.
Carracedo is the coordinator of the IMPaCT Genomics, a Carlos III Health Institute (ISCIII) project, which involves dozens of research centres and hospitals throughout Spain, including CNIO. IMPaCT has made it possible to establish a patient cohort that is enabling unprecedented study of the genetic factors of cancer.
Diagnosing 10% more hereditary cancer
“With IMPaCT Genomics, researchers can attempt to diagnose rare diseases and previously undetected hereditary cancers through whole-genome analysis—an approach rarely used in standard clinical care–. We are achieving a diagnosis in 20% of the cases of undiagnosed rare diseases, and close to 10% in undiagnosed hereditary cancer.
The benefits of this project are already being seen in clinical practice, in the case of familial cancer. “Here, accurate and thorough genetic counselling plays a crucial role,” Carracedo states.
The next challenge: population genetic screenings
In the medium and long term, IMPaCT will be key to also learn more about the role of genetic variants that are much more common than those that lead to familial cancer; genes whose influence is smaller but much more frequent among the population, and which, depending on their interaction with the environment or with other genes, can be essential in developing cancer.
The knowledge resulting from IMPaCT, or from international projects such as Genome of Europe, which will generate the most comprehensive genetic database of the European population to date and in which CNIO also participates, will pave the way for screening programmes for large population groups. For Carracedo, that is the next challenge: We need to see how population screenings work and how that common variation can be incorporated into risk estimation.
“Cancer screening programmes are going to change radically,” says Carracedo. In the future, anyone who wants to undergo screening at the age of 20 will be able to do so. By spending the same amount on health screenings, mammograms, and colonoscopies, we are going to do so much better. If we can stay one step ahead of the disease, we can save so many lives.”
“Helping families”
Mercedes Robledo, head of the Hereditary Endocrine Cancer Group at CNIO, explained how her team has identified five genes linked to hereditary pheochromocytoma over more than two decades of work — research that, she noted, is already helping many families affected by the disease.
She also stressed that, while this research has a direct impact on people with hereditary cancer, in the long run it stands to benefit us all. Robledo is taking part in the IMPaCT_VUSCan project, which is studying 300 families across Spain with higher-than-usual incidences of cancer. The aim is to identify the genetic causes behind their increased cancer risk. “In the long term, greater understanding of how each genetic variant affects cancer risk will improve personalised diagnosis and prevention for everyone,” Robledo said.
Familial cancer clinics to stay one step ahead of cancer
María Currás, head of the CNIO Familial Cancer Unit, explained how CNIO’s Familial Cancer Clinic at the Hospital de Fuenlabrada operates, studying over 600 cases each year. Of these, around 30% are healthy individuals who have a relative with cancer in whom a hereditary mutation has been identified. The clinic’s workload has steadily increased in recent years.
“Knowing that you carry a mutation can save your life,” Currás said.
She explained what should happen when someone who believes they might be at higher risk of cancer visits their GP. At Familial Cancer Clinics, family trees are examined to identify relatives who may have inherited a mutation that increases cancer risk. Currás also emphasised the importance of proper genetic counselling.
In her clinic, in 2024 alone, “29 mutations were detected in genes that could indicate the need for preventive surgery, in cases affecting women,” Currás notes. Identifying these carriers has a ripple effect, as it can also benefit their relatives.
“A person carrying a mutation that increases cancer risk can make decisions to help prevent it,” says CNIO researcher María Currás. For example, they may join monitoring programmes to detect cancer as early as possible or, in some cases, choose to have a healthy organ removed preventively.
In 5–10% of all cancer cases, the causative mutation is known and could be identified with a simple blood test. With nearly 300,000 new cancer diagnoses in Spain each year, thousands of people annually could take appropriate preventive measures if they were aware they carry hereditary cancer mutations.
“A more human approach to medicine”
Carracedo highlighted that “we live in an age of medicine based on we call the 5Ps: personalised, predictive, preventive, participatory and population-based. Drugs are increasingly personalised, tailored to individual patients, linked to biomarkers as seen with targeted cancer therapies, but we must place strong emphasis on prediction and prevention—areas where genetics will play a key role. The other two Ps are equally important: medicine must be equitable, ensuring everyone has the same access, and it must be patient-centred, making healthcare much more human.”
The event also featured Rosario Perona, Deputy Director of the Carlos III Health Institute (ISCIII), and José Enrique León, a member of the CNIO Friends association, and was conducted by journalist Pampa García Molina. The audience included patients, students at various educational levels, researchers and members of the general public interested in the topic.