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Researchers use functional test to measure the effect of inherited variants in BRCA2 cancer gene

Researchers at Mayo Clinic have combined results from a functional test measuring the effect of inherited variants in the BRCA2 breast and ovarian cancer gene with clinical information from women who received genetic testing to determine the clinical importance of many BRCA2 variants of uncertain significance (VUS).

All of Us Research: Participants Are Now Getting Back Genetic Results

“We’re changing the paradigm for research,” said Josh Denny, M.D.,  All of Us’s chief executive officer. “Participants are our most important partners in this effort, and we know many of them are eager to get their genetic results and learn about the science they’re making possible. We’re working to provide that valuable information in a responsible way.” The program’s in-depth genetic analyses include both whole genome sequencing and genotyping. Whole genome sequencing focuses on the more than 3 billion base pairs in the human genome, while genotyping looks at millions of genetic variants focused on people’s most common genetic differences.

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