Major step for cancer diagnosis and treatment

Scientists have taken a significant step in understanding mutations in the BRCA2 gene, associated with increased cancer risk, by characterizing the role of thousands of genetic variants. The study, published in the prestigious journal Nature, offers new insights for patients and doctors, paving the way for more accurate diagnoses and personalized treatments. The BRCA2 gene plays a crucial role in repairing damaged DNA. Harmful mutations in this gene increase the risk for several types of cancer, including breast, ovarian, prostate and pancreatic. About 45% of women with pathogenic BRCA2 mutations develop breast cancer by the age of 70. However, not all BRCA2 mutations are harmful, and many genetic variants remain unclassified, leaving patients and doctors uncertain about the associated risks.

• Study Methodology

To better understand these mutations, the researchers used CRISPR technology to introduce thousands of variants of the BRCA2 gene into human cells grown in the lab. They then analyzed the impact of these variants on the cells, identifying those that caused cell death as an indicator of potential harm. In total, the study classified 7,000 genetic variants, of which 91% were labeled as pathogenic, likely pathogenic, probably benign, or benign. Only a few hundred variants remained in the category of those of uncertain significance.

• Benefits for Patients

These findings provide clear answers for patients who face uncertainties following genetic testing. Fergus Couch, a senior researcher at the Mayo Clinic, said the new data will help patients determine whether their mutations are harmless or require preventive measures, such as mastectomy. Genetic testing companies regularly update their reports, and the results of this study will contribute to better assessing individual risks. The study not only provides answers about cancer risk, but also opens up new opportunities for personalized treatments. Doctors can use this information to identify patients who could benefit from targeted therapies, such as PARP inhibitors, which are effective in BRCA mutations.

• Future perspectives

The results of this study will be analyzed by a group of experts who will validate the conclusions before their integration into clinical guidelines. Fergus Couch emphasized that, in addition to providing answers to patients, the study contributes to a deeper understanding of BRCA2. This progress represents hope for patients and an example of how technological innovations can transform personalized medicine.