For women with gene mutation, surgery does reduce cancer risk

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No one keeps track of how many women have chosen to have prophylactic, or preventive, mastectomies to reduce the risk of breast cancer.

Surgeons have been performing them for decades in women at high risk because of family history of the disease. But not until the late 1990s did research show the procedure works.

Studies from the Mayo Clinic and the University of Pennsylvania have found the surgery reduces the risk of breast cancer by 90 percent in high-risk patients, especially those who have mutations of two genes linked with breast and ovarian cancer.

The study also found that removing the nipples and areolae, instead of saving them for cosmetic reasons, is more effective at preventing cancer.

"We have shown that mutation carriers clearly will benefit," said Dr. Barbara Weber, a researcher at the University of Pennsylvania. "But we tried to make clear that it remains an individual decision. For some women, it is the right choice, and for them, we know that it works."

In the mid-1990s, researchers identified two genes linked with breast and ovarian cancer, BRCA 1 and BRCA 2, and a blood test was developed to find mutations in those genes.

Testing isn't recommended as a screening tool for all women, but it can be helpful to women thought to be at high risk, said Kathy Calzone, a research nurse in genetics at the National Cancer Institute.

Breast cancer More than 192,000 women are diagnosed with breast cancer each year in the United States. About 5 percent to 10 percent of these women have a hereditary form of the disease. Inherited mutations in genes called BRCA 1 and BRCA 2 (short for breast cancer 1 and breast cancer 2) are involved in many cases of hereditary breast and ovarian cancer. Both men and women who inherit mutations may pass them on to sons or daughters. Source: National Cancer Institute

For example, women who test negative, even though they have family members with mutations, will be greatly relieved, she said.

Women who have mutations can reduce their risk, she said. Those who have their ovaries removed before menopause can drastically reduce their risk of getting ovarian cancer and cut their risk of breast cancer in half.

Weber agreed: "We feel very strongly that all women with mutations absolutely need to have their ovaries removed once they have all the children they want."

A reason is that ovarian cancer is rarely caught in early stages. "Most women die of their ovarian cancer," Weber said.

Screening is better at finding breast cancer, and treatments are more successful. But options for prevention are not as clear cut.

Women can try to catch cancer early by having frequent screening tests, such as mammography and breast MRI. Or they can try to prevent it by taking drugs, such as tamoxifen, or having their healthy breast tissue removed.

"This is a very drastic measure," Calzone said. "There's no emergency if there's no cancer there. They need to take all the time they need."

Women may choose prophylactic mastectomy for reasons that don't include having the mutation, Calzone said. They may be tired of having frequent biopsies or of the anxiety of not knowing.

People in families where the mutation is present have a 50-50 chance of inheriting it.

Weber said she would refuse to perform a mastectomy on a woman who tests negative, even if other family members have the mutation. Presumably, that woman's risk of cancer would be the same as the general population.

A woman who has a close relative with breast cancer may think she is at high risk. But if the relative with cancer tests negative for the mutations, it would not be clear if other family members have a higher risk than normal.

In those instances, Weber said, "We try to talk people out of prophylactic mastectomies."

Karen Garloch, Knight Ridder Newspapers

Copyright © 2004 The Seattle Times Company

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