Dr. Mark E. Robson, Chief of the Breast Medicine Service at Memorial Sloan Kettering Cancer Center, continues to lead research in breast cancer genetics. In a January 2025 Nature publication, he co-authored a study focused on the functional evaluation and clinical classification of BRCA2 variants, addressing a critical gap in genetic risk assessment.
The study systematically analyzed all possible single-nucleotide variants within exons 15 to 26 of BRCA2, a key DNA-binding region often harboring pathogenic mutations. Using CRISPR-Cas9-based saturation genome editing, the researchers classified 91% of variants as pathogenic, likely pathogenic, benign, or likely benign. This work significantly improves the accuracy of genetic testing, providing better risk stratification for patients with BRCA2 mutations.
By refining variant classification, this research enhances clinical decision-making for individuals with inherited cancer risk. Dr. Robson’s contributions continue to shape the future of personalized medicine, ensuring that genetic findings translate into more precise and effective breast cancer management.
Published in Nature: https://lnkd.in/ex77X4Tv
