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Options for Breast Cancer Survivors With Genetic Mutations

By Elizabeth Tracey , MS
WebMD Health News

Feb. 1, 2000 (Baltimore) -- In a study of women with a genetic predisposition to breast cancer who have already been diagnosed with the malignancy once, researchers have found that these women may benefit from surgical removal of the unaffected breast, removal of the ovaries, and/or treatment with tamoxifen. These therapies may result in increased life expectancy in women with breast cancer and genetic mutations.

"The utility of this study is that it takes a lot of data ? and provides a springboard for discussion between physicians and their patients," says Deborah Schrag, MD, lead author of the study, in an interview with WebMD. The study is based on mathematics, and as such is not able to provide data on observed clinical benefit, according to Schrag. The results are published in the Feb. 2 issue of the Journal of the American Medical Association.

Two genes, BRCA1 and BRCA2, are associated with an increased risk of breast cancer when they undergo mutations, thus often leading to several women in one family with the disease.

Schrag and colleagues at the Dana-Farber Cancer Institute in Boston wanted to assess how well various interventions would affect the chance of being diagnosed with breast cancer again in women with BRCA mutations. The researchers compared removal of the unaffected breast, removal of the ovaries, tamoxifen therapy, a combination of tamoxifen therapy with either of the two surgical therapies or with both, or simply careful watching.

The study shows that compared with careful watching alone, a 30 year-old early-stage breast cancer patient with a BRCA mutation could expect to gain 0.4 to 1.3 years of life from tamoxifen therapy, 0.2 to 1.8 years from removal of the ovaries, and 0.6 to 2.1 years from removal of the unaffected breast.

Gains in life expectancy were consistently lower for women whose cancer had spread to their lymph nodes and for older women, who would have fewer years of natural remaining life expectancy.

Schrag, who is now with Memorial Sloan-Kettering Cancer Center in New York City, says, "No estimate tells any patient what to do. I would say every woman I've ever seen makes these decisions based on personal preferences, but this study provides a context for discussion between a woman and her physician."

Roy Smith, MD, director of medical oversight for the National Surgical Adjuvant Breast and Bowel Project in Pittsburgh, gave objective comment on the study to WebMD. In an interview, Smith says, "This study is entirely hypothetical and retrospective, but it is interesting. The assumptions about tamoxifen benefit are consistent with what I would predict based on our experience, but there's no substitute for clinical trials. Before I put a young woman with a BRCA mutation on five years of tamoxifen therapy, I'd want to be satisfied that it was going to be beneficial."

Even though the analysis showed the greatest benefit was for women who underwent removal of their unaffected breast, Smith says, "I'm not sure that's a very useful observation because there are so few people doing it. The Holy Grail of breast cancer research remains finding a type of intervention that is not mutilating or high risk and that can be used early on. I don't think tamoxifen is that agent, but I think there are agents in studies and under development that seem quite promising."

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