Naturally, oncologists need to know who should undergo screening for BRCA mutations, said Kenneth Offit, MD, Chief of the Clinical Genetics Service at Memorial Sloan-Kettering Cancer Center. The National Comprehensive Cancer Network has established criteria for what specific groups of women and men should be screened for BRCA mutations, as well as recommended preventive measures for those who test positive. These are available at www.nccn.org (follow the links after clicking on “Practice Guidelines in Oncology”). Women with BRCA mutations usually are interested in having their daughters screened for mutations. Physicians generally won't test patients until they are at least 18, since screening young women can be problematic because of reproductive issues. If tests prove positive, women with BRCA mutations then have to contend with preventive decisions that could have an impact on their fertility, said B. Jay Brooks, Jr., MD, Chairman of the Department of Hematology/ Oncology at the Ochsner Clinic Foundation. Most BRCA-positive women won't develop cancer before they are 30. Nonetheless, women should carefully consider their family history of the disease. If other family members developed cancer at a young age, they may need to undergo screening and take preventive measures. Young women may need to be screened simply to alleviate any fear they have about having BRCA mutations, Dr. Brooks added. “One daughter I knew was absolutely convinced she had BRCA mutations, but she was negative and a weight was lifted from her.”Figure: Jeffrey Weitzel, MD: “Many people have assumed that women with newly diagnosed breast cancer are under severe stress and can't make decisions about genetic issues. However, women we saw at time of diagnosis welcomed extended discussion of cancer risk and a counseling interview.”Oncologists may want to keep in mind not only whom to screen, but also when. New research (Arch Surg2003;138:1323–1328) indicates that offering BRCA gene testing and genetic counseling to women soon after they are diagnosed with breast cancer significantly influences their choices about surgery to avoid a second breast cancer in the future. Previous studies have reported on the use of risk assessment years after completing breast cancer treatment, noted Jeffrey Weitzel, MD, Director of the Department of Clinical Cancer Genetics at City of Hope Cancer Center. “Timing of testing is an issue.” The study followed 37 women referred for assessment of breast cancer risk on the basis of family history or young age. Testing showed that seven of the women actually carried one of these mutations. They were then counseled about the much higher likelihood of developing a new breast cancer. Because risk assessment is usually performed after women have already had surgery on the diseased breast, preventative mastectomy for the second breast requires a second surgery—an obstacle for many patients, Dr. Weitzel pointed out. About 46 percent of women who have counseling after having completed therapy choose to have the second operation. In this study, the seven women chose to have preventative mastectomy performed at the same time as their breast cancer treatment. Additionally, BRCA-negative patients had a lower rate of bilateral mastectomy than they would have if they hadn't undergone genetic testing, he said. Logistically, offering testing shortly after diagnosis can be a challenge, he added. “Women have to able to come in and get tested and receive counseling, and get back the results in time to make decisions about treatment. You don't delay breast cancer treatment waiting for a genetic assessment.” Many people have assumed that women with newly diagnosed breast cancer are under severe stress and can't make decisions about genetic issues. “However, women we saw at time of diagnosis welcomed extended discussion of cancer risk and a counseling interview,” he said. —Heather Lindsey