Lessons Learned From Genetic Testing
- Laura Esserman, MD, MBA;
- Virginia Kaklamani, MD, DSc
- Author Affiliations: Mt Zion Carol Franc Buck Breast Care Center, University of California, San Francisco (Dr Esserman); and Division of Hematology and Oncology, Northwestern University, Chicago, Illinois (Dr Kaklamani).
Since this article does not have an abstract, we have provided the first 150 words of the full text.
- KEYWORDS:
- BRCA1 GENES
- BRCA2 GENES
- BREAST NEOPLASMS
- DECISION MAKING
- GENETIC PREDISPOSITION TO DISEASE
- GENETIC SCREENING
- MASTECTOMY
- SALPINGO-OOPHORECTOMY
- WOMEN'S HEALTH
The study reported by Domchek and colleagues1 in this issue of JAMA demonstrates the benefit of risk-reducing procedures for women with strong genetic predispositions for breast cancer. This multicenter study involved almost 2500 women diagnosed with BRCA gene mutations, almost half of whom chose either risk-reducing salpingo-oophorectomy (RRSO) or risk-reducing mastectomy (RRM). None of the women who underwent RRM developed breast cancer. Among women who underwent RRSO, only 1.1% developed ovarian cancer. Importantly, RRSO was associated with a reduction in all-cause mortality (hazard ratio [HR], 0.40), breast cancer–specific mortality (HR, 0.44), and ovarian cancer–specific mortality (HR, 0.21).
Women with BRCA gene mutations are at high risk for lethal cancer, the vast majority of which can be prevented in this population. But for this risk reduction to be possible, and for lives to be saved by preventive treatment, at-risk women must first be identified, and, as Domchek et al1 …
