Women who learn they have BRCA1 and BRCA2 gene mutations feel differently about options for relationships, treatment, childbearing and careers, according to a study.

Although genetic testing may help a woman manage her risk, it may also cause her to face complicated, life-altering decisions, researchers reported in the October issue of the American Journal of Nursing.

Women who inherit a BRCA1 mutation have a significantly increased risk of developing breast cancer, ovarian cancer or both. A mutation in BRCA2 increases risk of melanoma and cancers of the pancreas, stomach and gallbladder.

"Although there have been advances in determining a person’s genetic risk for disease, little is still known about the psychosocial consequences among young women who know they carry the BRCA1 and 2 mutations," Rebekah Hamilton, RN, PhD, associate professor in the College of Nursing at Rush University in Chicago, said in a news release.

"While being told you have a disease is distressing, learning that you carry a gene mutation that increases your risk of disease as well as that of your siblings and children raises other, more complex issues."

In 2006, participants were recruited from websites for women with breast cancer and/or BRCA gene mutations. Forty-four women ages 18 to 39 from 22 states and Canada who were found to carry a BRCA mutation were interviewed by phone or e-mail.

The findings focused on three characteristics of the participants: whether or not they were married, had children and had breast cancer — and how those characteristics were affected by the women’s knowledge of their genetic risk.

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

Many of the 24 participants who had children reported "staying alive" for their children as a primary goal and expressed concern and guilt that they might have passed the mutation to their children. The childless women reported an urgency to have children.

Of the 21 who had a breast cancer diagnosis, several said knowledge of their genetic risk influenced their decision to have the unaffected breast removed prophylactically.

"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 and her children and to change how she views her life options," said Maureen Shawn Kennedy, RN, MA, editor-in-chief of AJN.

"Nurses need to recognize a patient’s knowledge of genetic risk before testing and consider such factors as women’s age, marital status, breast cancer diagnosis, presence or absence of children and family history of breast cancer as important aspects of care."

The study abstract is available at http://journals.lww.com/ajnonline/Abstract/publishahead/Being_Young,_Female,_and_BRCA_Positive.99965.aspx.