Finding risky mutations to improve breast cancer gene tests

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Finding risky mutations to improve breast cancer gene tests

September 14, 2018

Scientists  edited mutations into a gene that suppresses breast cancer tumors and then tested to see which of the thousands of variants are harmful. 

An analysis of nearly 4,000 mutations deliberately engineered into the BRCA1 gene will immediately benefit people undergoing genetic testing for breast or ovarian cancer risk. The study was published Sept. 12 in the scientific journal Nature.

UW Medicine researchers developed an experimental method to determine  which mutations put people at high risk for cancer, and which will not. UW Medicine's Greg Findlay, Jay Shendure, and Lea Starita led athe effort to create mutations, one by one, using a tool called CRISPR to edit the gene's  DNA code.

The team then tested the mutations in living cells to single out those that disrupted normal function. The database is openly available  via the Brotman Baty Institute for Precision Medicine to  help patients and clinicians  trying to figure out genetic test results

A number of local, national and international news organizations covered this scientific and clinical develoipment.