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Classifying BRCA1 mutations

University of Washington team classifies functional outcomes of BRCA1 variants

October 25, 2018 4:04 PM UTC

University of Washington researchers have characterized the clinical consequences of nearly 4,000 variants in the tumor suppressor gene BRCA1 using saturation genome editing. The results provide interpretation of variants with previously uncertain significance and will allow clinicians to better identify a person’s risk of breast or ovarian cancer.

Lea Starita, a UW professor of genome sciences, believes the results are sufficient for doctors to start using the scores to make actionable decisions. “We have reported the specificity and sensitivity of the scores to correctly identify pathogenic and benign variants. That is all clinical geneticists need to use these scores as another tool in variant interpretation.” ...

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