Functional characterization of variants improves cancer risk assessment and treatment
Ramona Turcu
Mayo Clinic Jan 9 2025 Findings from a multi-institutional, international study led by researchers from the Mayo Clinic Comprehensive Cancer Center have significantly advanced the understanding of genetic alterations in the BRCA2 gene, a key player in hereditary cancer risk. The researchers completed a comprehensive functional assessment of all possible variants within the crucial DNA-binding domain of BRCA2, resulting in the clinical classification of 91% of variants of uncertain significance (
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