Great excitement followed the discovery of the BRCA-1 and BRCA-2 genes in the mid-1990s. Women born with mutations of these genes are at increased risk of both breast and ovarian cancer. The frequency of these mutations in the general population is between 1/400 to 1/800, but much higher in some populations, particularly people of Ashkenazi Jewish ancestry.

However, investigators wondered how to best use the information provided by genetic testing. Available options for mutation carriers include mammography, physician and/or patient examination, transvaginal ultrasound, CA125 blood test, chemoprevention and consideration of preventive surgeries of the breasts and ovaries.

Previously, investigators have evaluated outcome of screening and prophylactic mastectomy. Dr. Offit presented a recently completed study looking at the impact of risk reduction with salpingo-oophorectomy the surgical removal of the ovaries and fallopian tubes.

This prospective study included 173 women with mutations of BRCA-1 or BRCA-2. The patients and their families met with a genetic counselor and physician to discuss prevention options. Of the group, 101 women chose to undergo salpingo-oophorectomy and 72 women chose surveillance.

In the 101 women choosing surgery, investigators found 3 unsuspected early stage ovarian cancers at the time of surgery. Four additional cancers were found over a mean 22.6 months of follow-up. These included three breast cancers and one peritoneal cancer.

By comparison, investigators found 13 cancers in the 72 women on the surveillance arm. When the 3 early stage ovarian cancers were excluded from the statistical analysis there was a significant risk reduction seen in the treatment arm in subsequent breast and ovarian cancer.

Based on these results, women with BRCA gene mutations should consider salpingo-oophorectomy. However, physicians need to counsel women that breast and peritoneal cancers can still occur.

BRCA carriers who undergo surgery should continue to receive long-term follow-up care.

(abstract #3)