Functional characterization of variants improves cancer risk assessment and treatment
· News-MedicalFergus Couch, Zbigniew and Anna M. Scheller Professor of Medical Research, Mayo ClinicUntil now, patients who carried VUS often worried if they would develop cancer, but now with the classification of these variants, we can provide a clearer picture of cancer risk and tailor both prevention strategies as well as breast cancer treatment accordingly."
The researchers say that this research lays the groundwork for future studies characterizing and classifying all BRCA2 variants across diverse populations and cancer types, improving risk assessment for everyone.
The study involved collaborators at Ambry Genetics Inc., Duke University, H. Lee Moffitt Cancer Center, the University of Pennsylvania and several contributing studies from the CARRIERS consortium. The study was supported by funding from the National Cancer Institute, Mayo Clinic Breast Cancer SPORE (P50 CA116201) and R35 Outstanding Investigator Programs, the Mayo Clinic Comprehensive Cancer Center, and the Breast Cancer Research Foundation.
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