Spanish project to identify cancer-causing genes

Today they can only know their willingness to Cancer development Part of those who are at higher than normal risk. So that many people are aware of their risks and can prevent the onset of cancer or detect it in time, the “IMPaCT_VUSCan” project has been launched, jointly with the National Cancer Research Center (CNIO) and Bellvitge Biomedical Research Institute / Catalan Institute of Oncology (Idibell/ICO) in which seven other Spanish research centers participate, as explained by the CNIO in a press release.

“IMPaCT_VUSCan”, as stated by the think tank, seeks Expand knowledge about genetic variants affecting susceptibility to cancer. variables become Different versions of the gene. There may be thousands of variants for each gene, they explain from the foundation.

The first beneficiaries of this project will be Families with high-risk genes Which is transmitted from parents to children, and therefore the cases of cancer are more than usual. The ‘IMPaCT_VUSCan’ tool will collect and analyze in maximum depth Data of more than three hundred families from all over Spain with familial cancer cases.

But in the medium and long term, knowing more about the relationship between each genetic variant and cancer will bring personalized medicine for all residents. project it 3,179,990 Euro financingIt will run until December 2025.



From family cancer to personalized medicine for everyone

“We hope to improve the clinical management of family members with hereditary cancer,” he says. mercedes robledo, Chair of the CNIO Genetic Endocrine Group and Principal Investigator of “IMPaCT_VUSCan”. This project will allow in the coming years to identify genetic variants, among the thousands that each individual carries, that are linked to their cancer development. This will promote personalized medicine for everyone.”

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Our approach is geared toward familial cancerBut the information we obtain will also be useful for advances in understanding cancer-related genes in general,” adds Robledo.



It is already known that dozens of genes increase susceptibility to cancer

Mutations born out and environmental factorsLike lifestyle, determine predisposition to cancer. Some people inherit mutations or variants in genes from their parents that increase their risk of developing the disease. As some of these variables are already known, today’s National Health System (SNS) spanish can detect and offer follow up to those who carry it, to Early detection of disease and personalized treatment.

This is done through family cancer counseling, which is an effective strategy. “Family cancer counseling has really come to fruition Cut the infection rate in half cancer in patients who are being followed up in these programs, and that their life expectancy has been increased to ten years,” she declares Conxi Lazarusprincipal investigator on the project and head of the Idibell Cancer Genetics Group Catalan Institute of Oncology. “But many of the variables that influence cancer risk have yet to be identified,” he adds.

in breast cancerFor example, dozens of predisposing genes have already been identified, and two of them cause the risk of developing it 70 percent. But these 10 genes explain only half of the cases of breast cancer with a genetic component, which means that additional genetic factors related to susceptibility to this type of cancer must still be discovered.



Uncertainty of variables of unknown significance (VUS)

Researchers know that most of the genetic variants they identify will be of “unknown significance,” meaning: “When we look at… Genomes of affected family members We have found genetic variants that have not been previously shown to have an effect, and therefore we do not know if they are responsible for the development of the disease in that family, ”explains Robledo.

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We are Variables with unknown meaning (VUS, for its acronym in English) generates a lot of frustration: “Ultimately, what we want is for the information that reaches the doctor to be useful, to help determine whether or not it is an important variable. Precisely for this reason, the IMPaCT_VUSCan project makes sense” says Robledo.

“Many of the newly observed variants often do not have sufficient evidence to be considered pathogenic or benign, and are eventually classified as VUSexplain the project researchers. “VUS can be confusing for patients and clinicians because it creates uncertainty, and it cannot be used to guide diagnosis or treatment.”



Artificial intelligence to “solve” the VUS

That’s why IMPaCT VUS_Can started this year, in which the research focuses precisely on variables of unknown meaning, and 300 families were analysed. The aim is to move towards a ‘resolution of the VUS’, that is, to elucidate its role in cancer predisposition.

Given the predictably large number of VUS identified in an individual’s genome, the first step would be prioritization. This is work Bioinformatics groups, who analyze vast amounts of genomic information and develop artificial intelligence methods to identify the most important variants. Their predictions must be validated by functional tests.

As variants are resolved, they will be included in databases of genetic variants, which will ultimately improve accuracy and Personalize oncology diagnoses and treatments.

Although it may contain data, data or observations from health institutions or professionals, the information contained in Redacción Médica is edited and prepared by journalists. We recommend the reader to consult a health professional with any health-related questions.

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