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.
Perspectives
The vast majority of sequence changes in these genes do not involve the genetic code, and are underappreciated for their potential to explain the increased risk of breast and ovarian cancer in people at increased risk for these diseases.
Dr Peter K Rogan
Western University
Read the Original
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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