Women Take Advantage of Early Genetic Counseling in Making Breast Cancer Surgery Decisions

City of Hope
Monday, 1 December 2003

A new study in the December issue of Archives of Surgery suggests that offering genetic cancer risk assessment—genetic counseling and BRCA gene testing—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.

Breast cancer risk assessment helps determine if a woman has a genetic predisposition to breast cancer. This predisposition is more likely to be a factor in young breast cancer patients under the age of 50. Genetic status also influences the likelihood of getting a new or second breast cancer as well as ovarian cancer.

Previous studies have reported on the use of risk assessment years after completing breast cancer treatment. The study is the first to examine how offering the risk assessment during the treatment decision-making process affects a woman's choice of treatment options. "It's clear that women are taking advantage of this information when it is offered at the time of diagnosis," according to the study's lead author, Jeffrey Weitzel, M.D., director, Department of Clinical Genetics, City of Hope Cancer Center.

The study followed 37 women who had been referred for breast cancer risk assessment on the basis of family history or young age. Thirty-two provided blood samples that were used to sequence the genes BRCA1 and BRCA2 for mutations known to be risk factors for breast cancer, Dr. Weitzel said.

These mutations are carried by about one in 500 women, but are present in at least one of every ten breast cancer patients under age 40. The average age of the women in the study was 43.

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. Once a woman with this genetic predisposition develops breast cancer, her chances of developing the disease a second time soars to 50 percent over her lifetime, even if the first occurrence is treated successfully.

To prevent future disease, women often choose to have the unaffected breast removed. But because the risk assessment is usually performed after they have already had surgery on the diseased breast, preventative mastectomy for the second breast requires a second surgery—an obstacle for many women. About 46 percent of women who have counseling after having completed therapy choose to have the second operation.

Because risk assessment in the City of Hope study was performed before final treatment decisions were made, the seven women could choose to have the preventative mastectomy performed at the same time as their breast cancer treatment. Provided with this option, all seven women chose this approach.

Just as important, almost all of the women who did not have a mutation and were counseled that they did not appear to have a genetic predisposition chose unilateral risk-appropriate surgery.

Dr. Weitzel said that despite the study's small sample size, the results suggest "that more women choose concurrent risk reduction mastectomy when breast cancer risk assessment is integrated into the treatment planning for women with newly diagnosed breast cancer."

The City of Hope research team also included Sarah M. McCaffrey, RN, MSN; Raluca Nedelcu, MS, CGC; Deborah J. MacDonald, RN, MS, APNG; Kathleen R. Blazer, MS, CGC; and Carey A. Cullinane, MD, MPH.

For more information, or to contact City of Hope, see their website at: www.cityofhope.org