Women with BRCA Mutation, Or High Degree of Worry, Most Likely to Undergo Prophylactic Mastectomy

Women at increased risk for breast cancer because of the genetic BRCA mutations are more likely to think a prophylactic mastectomy is the best way to reduce their risk for the disease, compared to other women who are at high risk, according to researchers at The University of Texas M. D. Anderson Cancer Center.

The study, published in the most recent issue of Cancer, also finds that the emotional worry was a strong factor leading women – both BRCA mutation carriers and others at high risk for the disease – to opt for the surgery.

It’s estimated that .1 to .2 percent of the general population carry either the BRCA 1 or 2 mutation, both of which are associated with an increased risk of breast and/or ovarian cancer. For those with the BRCA1 mutation, their lifetime risk of developing breast cancer is 47-66 percent, with some estimates even higher; those with BRCA2 have a lifetime risk of 40-57 percent.

Women are referred to genetic counseling because of a personal diagnosis of breast cancer at a very young age, or a strong family history of the breast and/or ovarian, explained Jennifer Litton, M.D., assistant professor in M. D. Anderson’s Department of Breast Medical Oncology.

“Women who are even suspected to have a BRCA mutation are highly motivated and need to make important decisions regarding their treatment options, even if they don’t have cancer,” said Litton the study’s senior author. “With the study, we wanted to determine the reasons why women make different choices in either screening - including breast-self exams, mammograms, or MRIs – or prophylactic measures, such as medications like Tamoxifen or surgeries.”

In conducting the study, the researchers sent surveys to 540 women who received genetic counseling and were screened for the BRCA mutations at M. D. Anderson between 1997 and 2005. Of those surveys, 312 (58 percent) were returned: 217 (70 percent) had breast cancer and 86 (28 percent) tested positive for the BRCA1 or 2 mutation.

In the surveys, patients were asked questions regarding their fear of developing the disease, as well as their feelings on: the screening techniques mammograms and breast-self exams; the drug Tamoxifen and its known side effects, and prophylactic surgeries.

Regarding mammograms and self breast exams, the study found little difference between the BRCA positive and negative cohorts. Neither group felt that mammograms were too difficult to get because of discomfort, nor did either report being too embarrassed to perform breast-self exams. In addition, there was no statistical difference in the two groups’ feelings toward Tamoxifen: 37.9 percent of the BRCA positive patients and 46.5 percent of the BRCA negative patients felt that the concerns associated with the drug outweighed its benefits for reducing risk of developing breast cancer.

In evaluating the response to questions regarding prophylactic mastectomies, the researchers began to see significant differences between the two groups, and “worry” as a recurring concern.