A study published in the October issue of the American Journal of Nursing (AJN) found that young women who learn they have BRCA1 and BRCA2 gene mutations felt differently about options for relationships, treatment, childbearing and careers. Women who inherit a BRCA1 mutation have a significantly increased risk of developing breast, ovarian cancer or both. A mutation in BRCA2 increases risk of melanoma and cancers of the pancreas, stomach, and gallbladder. While genetic testing may help a woman manage her risk, it may also cause her to face complicated, life-altering decisions. AJN, the leading voice of nursing since 1900, is published by Lippincott Williams & Wilkins, part of Wolters Kluwer Health.
"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 BRCA 1 and 2 mutations," said Rebekah Hamilton, associate professor in the College of Nursing at Rush University in Chicago and author of the study. "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 Web sites for women with breast cancer and/or BRCA gene mutations. Forty-four women ages 18 to 39 from 22 US states and Canada who were found to carry a BRCA mutation were interviewed by phone or e-mail. A qualitative, grounded theory analysis was performed focusing on the participants' being young and having had genetic testing for the BRCA mutation. The findings focused on three characteristics of the participants - whether or not they were married, had children, had breast cancer - and how those characteristics were affected by the women's knowledge of their genetic risk.