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Genetic Changes Influence Breast Cancer Development and Survival

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Dec. 14, 1999 (Baltimore) -- Genetic changes known as mutations do influence the development of breast cancer, the course of the disease, and survival, reports a study in the Dec. 15 issue of the Journal of the National Cancer Institute. However, the presence of these mutations alone, called BRCA mutations, does not predict who will survive and should not influence therapies a woman may receive following surgery.

"Our results may give us an opportunity to reduce the risk of women with BRCA mutations by applying aggressive surveillance strategies," says Mark Robson, MD, the study's lead author, in an interview with WebMD. "What we're recommending now is breast self-exam once a month and breast exam by a provider three or four times a year, in addition to mammography. And we're starting surveillance at age 25, since these women begin to be at risk in their late 20s," says Robson, who is with Memorial Sloan-Kettering Cancer Center in New York.

The study included over 300 women of Ashkenazi Jewish descent who had a lumpectomy for breast cancer and looked for the presence of the mutations by DNA analysis of the lymph nodes. Other clinical data included age of the patient at diagnosis, whether the cancer was in the lymph nodes, size of the tumor, and appearance of the tumor under the microscope. Women of Ashkenazi descent were selected for this study because the mutations occur more often in this population than they do in the general population.

Results detected BRCA mutations in 28 of the women. Women with mutations were more likely to be diagnosed with cancer before the age of 50, to have lymph node involvement in the cancer, to experience breast tumor recurrence on the same side as the original tumor, and to develop another tumor in the other breast. The length of time before recurrence of breast cancer was reduced in these women, as was their likelihood of dying from breast cancer. "Women with mutations typically had more advanced disease at presentation [diagnosis]," says Robson. "However, mutation status alone did not predict survival."

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