Kyriaki Michailidou, kConFab Investigators, Australian Ovarian Cancer Study Group et al.|Nature Genetics|2013
Cited by 1.1kOpen Access
University of Manchester
ORCID: 0000-0002-4271-6459Publishes on BRCA gene mutations in cancer, Genetic Associations and Epidemiology, DNA Repair Mechanisms. 301 papers and 31.8k citations.
Add your photo, update your bio, and get notified when your ranking changes.
Advances in sequencing technology have made multigene testing, or “panel testing,” a practical option when looking for genetic variants that may be associated with a risk of breast cancer. In June 2013, the U.S. Supreme Court invalidated specific claims made by Myriad Genetics with respect to the patenting of the genomic DNA sequence of BRCA1 and BRCA2. Other companies immediately began to offer panel tests for breast cancer genes that included BRCA1 and BRCA2. The subsequent flourishing of gene-panel testing services has generated much interest both within the clinical genetics community and in the popular press. These panels cover a total of more than 100 genes, and breast cancer is specifically mentioned as an indication for 21 of these genes. However, the fact that the technology is available does not necessarily mean that such tests are appropriate or desirable.