Young women who have the BRCA1 and BRCA2 gene mutation feel differently about their options for relationships, treatment, childbearing, and careers. In this study, researchers evaluated the psychosocial consequences of carrying the BRCA1 and BRCA2 mutations.

Those women who inherit the BRCA1 mutation have a significantly increased risk of developing breast cancer, ovarian cancer, or both. Those women with a mutation in BRCA2 have an increased risk of melanoma and of cancers of the pancreas, stomach, and gallbladder.

In 2006, this study recruited 44 women with a BRCA mutation from Web sites for women, and interviewed them by phone or email. The women were age 18 to 39 years, and were from 22 states and Canada. The study used a qualitative, grounded theory analysis that focused on the participants being young and having had genetic testing for the BRCA mutations. The findings of the study focused on three characteristics of the patients, which were if they were married, if they had children, and if they had breast cancer. The study asked how those characteristics were affected by the women’s knowledge of their genetic risk.

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The issues among the 13 unmarried participants included when to tell a new partner about your genetic risk, how early in a relationship to discuss having children, or plans for prophylactic mastectomy or oophorectomy. The young women also had concerns about the impact of pregnancy on cancer development, disruptions on relationships, and a sense of discrimination from peers. Some of those surveyed expressed a feeling of being less perfect than other family members.

Among the 24 participants who had children, “staying alive” for their children was a primary goal. They expressed concern and guilt that they may have passed the mutation to their children. The childless women reported an urgency to have children. Among the 21 who had a breast cancer diagnosis, several explained that their knowledge of their genetic risk influenced their decision to have the unaffected breast removed prophylactically. This study was published in American Journal of Nursing.

“While learning that you have the mutation can empower a woman to reduce her risk of developing cancer or detect it in its earlier stages, it can cause her to worry for herself, her children and to change how she views her life options,” said Maureen Shawn Kennedy, MA, RN, editor-in-chief of AJN. “Nurses need to recognize a patient’s knowledge of genetic risk before testing, and consider such factors as woman’s age, marital status, breast cancer diagnosis, presence or absence of children, and family history of breast cancer as important aspects of care.”