A landmark study by an international scientific team led by the Biostatistics Unit of the Cyprus Institute of Neurology and Genetics (CING) helps to interpret mutations in the BRCA1 and BRCA2 genes more reliably.
In an era where prevention is a key factor in ensuring health, accurate and timely analysis of genetic data is emerging as a valuable tool for the scientific community. A new study published in the prestigious journal Nature Communications (impact factor 14.7) marks a significant advance in the diagnosis and risk assessment of breast and ovarian cancer.
The study analysed data from more than 400,000 women from around the world to clarify which genetic mutations in the BRCA1 and BRCA2 genes increase the risk of cancer – and which do not.
These two genes have been known for years for their role in hereditary predisposition to certain cancers. However, thousands of mutations in these genes remain ‘grey areas’ for doctors and patients, since we do not know for sure whether they are harmful.
What this new analysis offers
The scientific team led by Dr. Kyriaki Michailidou, Associate Professor of the CING and first authors Dr. Maria Zanti and Dr. Denise O’Mahony, in collaboration with leading scientific institutions around the world, developed a statistical model that allows the comparison of the incidence of specific mutations in women with and without cancer. In this way, they were able to identify which genetic mutations are associated with an increased risk.
“The results of the study are not only theoretical. They have practical applications in clinical practice. Doctors and geneticists will now be able to more accurately inform women undergoing gene testing whether or not they carry dangerous mutations,” explains the study’s lead investigator, Dr. Kyriaki Michailidou. ‘This work can significantly reduce the uncertainty in genetic testing and consequently women will be able to make safer decisions about their health,’ she stresses.
The study comes at a time when genetic testing is becoming increasingly affordable. This makes it essential that the results are interpreted correctly – to avoid excessive concerns, but also to ensure that the true risk is not overlooked.
Commenting on the study, the Executive Director and Medical Director of the CING, Prof. Leonidas Phylactou said: “This study is another important step towards personalised medicine. The contribution of our Institute, through the Biostatistics Unit, to such a large-scale international research effort, demonstrates our role as a pillar of biomedical research, with direct benefit for prevention and women’s health.”
The study was published in the journal Nature Communications and is available at: https://www.nature.com/articles/s41467-025-59979-6
Source: The Cyprus Institute of Neurology & Genetics | News & Events | Media (https://tinyurl.com/mtjmhr7x)