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SEATTLE, WA – Nearly 4,000 mutations in the BRCA1 breast cancer gene have been deliberately designed and analyzed in living cells in laboratory cans. Data showing which ones are potentially harmful or harmless will immediately be useful to many patients with inconclusive genetic test results for breast cancer risk or ovarian cancer.
Over the last decade, the BRCA1 gene has been sequenced in millions of American women with a family history of breast or ovarian cancer. Obtaining test results revealing genetic variants of uncertain significance can create anxiety.
The results of the research appear today in the journal Nature. Additional mutation classifications are put online via the Brotman Baty Institute of Precision Medicine in Seattle.
The scientific team included Jay Shendure and Lea Starita from the Department of Genome Sciences of the Faculty of Medicine at the University of Washington. Both are also with the Brotman Baty Institute, where Shendure is the director.
Greg Findlay, a DM / Ph.D. student at UW's Faculty of Medicine, led the development of laboratory technology, based on the CRISPR gene editing. This and other methods have provided information on the risk of cancer on many different mutations of the BRCA1 gene. The approach should improve disease risk tests for mutations in other genes.
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