BRCA Gene Mutations: Knowing You’re At High Risk for Cancer

‘Autumn Washed Away,’ Diane Hammond/ via Flickr

By Shawn Kennedy, MA, RN, AJN editor-in-chief

October is Breast Cancer Awareness month. We thought we’d do our part with a feature article to help increase nurses’ awareness of some of the issues faced by women who find they are at high risk for breast cancer.

In the October issue, author Rebekah Hamilton describes her research with young women who learn they have a BRCA gene mutation that puts them at greater risk for cancer, especially breast and ovarian cancers. “Breast cancer risk ranges from 50% to 85% by age 50 in women with the mutation and is 12% in women without it.” Her study explores the consequences this knowledge has on decisions these women make about their future, especially those related to prophylactic surgery, relationships, and childbearing, and offers some recommendations for practice. The abstract is below, but I urge you to read the study, especially if your patients include young women.

Objective: Women who carry a BRCA1 or BRCA2 gene mutation face a risk of developing breast or ovarian cancer at an earlier age than women without such a mutation. Relatively little is known about the psychosocial consequences—especially regarding marriage and childbearing—in young women who test positive for one of these mutations.

Methods: In 2006, participants were recruited from Web sites for women with breast cancer or BRCA gene mutations. Forty-four women ages 18 to 39 from 22 states and Canada who had had genetic testing and were found to carry a BRCA mutation were interviewed by phone or e-mail. A qualitative, grounded theory analysis was performed on the data, focusing on the participants’ being young and having had genetic testing for the BRCA mutation. The findings reported here focus on three characteristics of the participants—whether or not they were married, had children, or had a breast cancer diagnosis—and how those characteristics were affected by the women’s knowledge of their genetic risk.

Results: Among the 13 unmarried participants, issues of when to disclose information about their genetic risk in intimate relationships were discussed. Many of the 24 participants who had children reported “staying alive” for their children as a primary goal; the childless women reported an urgency to have children. Of the 21 who had a breast cancer diagnosis, the youngest was 24 years old, and several said knowledge of their genetic risk influenced their decision to have the unaffected breast removed prophylactically.

Conclusions: A sense of being different and not understood was expressed in these interviews. These findings suggest that nurses should be aware of psychosocial issues, especially those surrounding marriage and childbearing, in their interactions with young women who carry a BRCA1 or BRCA2 gene mutation.