Functional characterization of variants improves cancer risk assessment and treatment

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Functional characterization of variants improves cancer risk assessment and treatment
BRCA2 GeneBreast CancerCas9
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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.

Mayo ClinicJan 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.

"This research is a major advancement in understanding the role of many BRCA2 variants in cancer predisposition," says Fergus Couch, Ph.D., the Zbigniew and Anna M. Scheller Professor of Medical Research at Mayo Clinic. "We now have a catalog of every possible VUS in this part of BRCA2 that can be used to guide clinical care," says Dr. Couch.

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