What is it about?
We develop new general approaches to interpret mutations that cause abnormal expression of genes, and apply these approaches to studies of approximately 300 women with higher cancer risk. This work shows that some previously uninterpretable gene variants probably predispose to these diseases.
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Why is it important?
A large number of patients with a family history of breast and or ovarian cancer that receive conventional genetic testing never get a definitive molecular genetic diagnosis. This is because current clinical approaches for interpreting the results of this testing do not interrogate variants outside those which change the classic genetic code.
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This page is a summary of: Prioritizing Variants in Complete Hereditary Breast and Ovarian Cancer Genes in Patients Lacking KnownBRCAMutations, Human Mutation, March 2016, Wiley, DOI: 10.1002/humu.22972.
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