MedicalResearch.com: What are the main findings of the study?
Answer: We found that 11% of women who met standard clinical criteria for BRCA1 and BRCA2 (BRCA1/2) mutation testing, yet had tested negative, actually carried an actionable mutation in another cancer-related gene. We found that patients were highly motivated to learn about their genetic test results and new recommendations for cancer risk reduction. Over a short follow-up period, colonoscopy screening resulted in early detection of a tubular adenoma in a patient found to have a high-risk MLH1 mutation, and thus the multiple-gene testing in our study has likely prevented at least one cancer to date. We conclude that multiple-gene sequencing can benefit appropriately selected patients.
MedicalResearch.com: Were any of the findings unexpected?
Answer: The finding that 11% of women tested for BRCA1/2 mutations have a deleterious mutation in another cancer-associated gene was surprising – this is about the same proportion of women in this clinical setting who test positive for BRCA1/2 mutations, which means that multiple-gene sequencing can probably double the number of patients who receive meaningful test results. This was a larger impact than we had anticipated.
MedicalResearch.com: What should clinicians and patients take away from your report?
Answer: Next-generation sequencing for cancer risk has entered clinical practice, and multiple-gene panel testing can benefit selected patients; in particular, such testing may be informative for women who have tested negative for BRCA1/2 mutations. Results can be complicated and their interpretation requires expertise by genetic counselors and other appropriately trained clinicians.
MedicalResearch.com: What recommendations do you have for future research as a result of this study?
Answer: Large population-based studies are necessary to quantify the cancer risks associated with less familiar genes on these panels (for example, NBN) and to inform practice guidelines regarding which patients should be tested, and how their cancer risks should be managed.
Allison W. Kurian, Emily E. Hare, Meredith A. Mills, Kerry E. Kingham, Lisa McPherson, Alice S. Whittemore, Valerie McGuire, Uri Ladabaum, Yuya Kobayashi, Stephen E. Lincoln, Michele Cargill, and James M. Ford