Meeting the challenges of interpreting variants of unknown clinical significance in BRCA testing
Vanessa Lattimore, Margaret Currie, Caroline Lintott, Jan Sullivan, Bridget A Robinson, Logan C Walker
Identification of cancer-causing mutations in the breast cancer susceptibility genes BRCA1 and BRCA2, has well-defined and actionable implications for preventing disease. Recent advances in genomic technologies will allow more breast cancer susceptibility genes to be screened in an increasing number of individuals and at an ever decreasing cost. This will result in the identification of a huge number of genetic variants with unknown clinical significance. Interpreting the clinical meaning of such variants will be one of the major challenges of genomic medicine. We believe that oncologists, genetic counsellors and general practitioners need to be aware of current classification tools, and resourced sufficiently to take advantage of these tools as they evolve to incorporate genes other than BRCA1 and BRCA2.
