Lifestyle Choices

Women with newly diagnosed breast cancer are concerned about any possible risk to their daughters and sisters. If a woman does not appear to be in a family that has breast cancer in approximately half the women on one side, then she probably does not have either the BRCA-1 or BRCA-2 gene. Gene positivity is associated with bilateral breast cancer, ovarian and breast cancer in the same family, and Ashkenazic Jewish ancestry. Women who are gene positive tend to develop breast cancer at a younger age than women with non-hereditary breast cancer.

It is helpful to create a family chart for your physicians and for your own records to determine if such a pattern exists. You will be called the index case, and you will start with your two parents and two sets of grandparents. Then you can fill in any aunts, uncles, and siblings, listing any diseases, cancers, and causes of death for any of the deceased. Your own family will have its own configuration, of course. For your record keeping, include the initials of relatives and their ages, the date of death and cause, and diseases.

Many women are understandably concerned about the risk of a second breast cancer. If your cancer is ductal in type and you do not have hereditary breast cancer in your family and you have no associated lobular neoplasia, your risk for recurrence is close to the average woman’s risk (no greater than a 12 percent lifetime risk or less than 0.5 percent per year). However, if you have lobular breast cancer or associated lobular neoplasia (LCIS or atypical lobular hyperplasia), your risk of developing a second breast cancer is higher. This is approximately 1 percent to 2 percent per year or a 30 percent lifetime risk. Mutations in BRCA-1 have been associated with a 25 to 30 percent risk of a second breast cancer within five years of the first diagnosis, and it is assumed that mutations in BRCA-2 are associated with comparable risks. In addition, mutations in either BRCA-1 or BRCA-2 make it ten times more likely that a woman with breast cancer will later on develop cancer of the ovary.

Presently, there is only one laboratory offering full analysis of BRCA-1 and BRCA-2 outside of specific research projects. The test performed by this laboratory is designed to find any of the hundreds of different mutations in these genes that have been described.

Clearly, the ability to identify women at increased risk for both ovarian and breast cancer will be helpful in our surveillance and prevention of these diseases. A government panel has recommended that women with mutations in BRCA-1 and BRCA-2 undergo surveillance for breast and ovarian cancer beginning before age thirty-five. This would include monthly breast self-examination, annual or semiannual clinician evaluation, and annual mammography. In addition, there is evidence that the drug tamoxifen may reduce the risk of breast cancer in women with mutations of the BRCA-2 gene. A minority of women with hereditary risk choose surgical removal of the breasts (prophylactic mastectomies), which has been shown to reduce the risk of breast cancer by greater than 90 percent.

Women with mutations in BRCA-1 and BRCA-2 may also choose to undergo surveillance for ovarian cancer. Screening methods include ultrasound using an intravaginal probe and a blood test called CA 125, although neither of these methods has been shown to be very effective at finding ovarian cancer in its early stages. There are medications that may reduce the risk of ovarian cancer, however. For example, a recent study demonstrated that women with mutations who had taken birth control pills for approximately five years were far less likely to develop ovarian cancer. Finally, surgical removal of the ovaries may be considered, usually after age thirty-five or after childbearing is completed. Like prophylactic mastectomy, this procedure greatly reduces but does not entirely eliminate the risk of the disease.

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