Author Interviews, Breast Cancer, Genetic Research, JAMA, Ovarian Cancer / 13.08.2015
Panel Testing Identifies More Management-Changing Genes Than BRAC1/2 Alone
MedicalResearch.com Interview with:
Leif W. Ellisen, M.D., Ph.D
Professor of Medicine, Harvard Medical School
Program Director, Breast Medical Oncology
Co-Leader, Breast Cancer Program
MGH Research Scholar MGH Cancer Center
Boston, MA 02114
Medical Research: What is the background for this study? What are the main findings?
Dr. Ellisen: The traditional approach to genetic testing for women with suspected hereditary breast and/or ovarian cancer risk is to test for BRCA1 and BRCA2 alone. Recent studies have shown that testing with a multi-gene panel finds relevant risk gene mutations in substantially more women than does testing for BRCA1 and BRCA2 alone. However, one of the concerns about broader multi-gene testing has been that the results really wouldn’t change what you told women about their risk and management – either because the risk associated with the other genes may not be as high as for BRCA1/2, or because the clinical practice guidelines associated with some of the other genes are less specific.
Our study sought to determine how often testing such women using a multi-gene panel would find mutations in genes other than BRCA1/2, and more importantly to ask whether finding those mutations would change how you would manage the patient and their family. We found that multi-gene panel testing finds relevant risk gene mutations in substantially more women (approximately 40% more) than does testing for BRCA1 and BRCA2 alone. Furthermore, in a case-by-case analysis we showed that finding mutations in these other genes is likely to change the clinical management that is considered or recommended for the majority of the mutation-positive women and their families. Notably, our analysis of the predicted management change is based not just on the gene mutation alone, but on how the gene appears to be behaving in that particular family.
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