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Health Information Under the Microscope: Gene Mutations Make Young Women Feel Different

A study explores how BRCA mutations can alter views on life events such as marriage and parenthood.

Through genetic testing, some young women are learning they have an increased risk of developing cancer. While this information can help them take preventive measures to help stave off disease, it also has the potential to create some trepidation when considering major life decisions.

A study authored by Rebekah Hamilton, RN, PhD, associate professor at the Rush University College of Nursing at Rush University Medical Center, found that young women with a BRCA1 or BRCA2 gene mutation, which can be found through genetic testing, often feel different and misunderstood.

Women who inherit a BRCA1 or BRCA2 mutation have a 60 to 85 percent higher risk of developing breast cancer or ovarian cancer than those who don't have the mutation. While genetic testing may help a woman take precautions, she may also face complicated decisions regarding relationships, childbearing and career according to the study, which was published in the October 2012 issue of the American Journal of Nursing.

"Although there have been advances in determining a person's genetic risk for disease, little is known about the everyday consequences faced by young women who carry the BRCA 1 or 2 mutations, or both," Hamilton says. "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."

Reflecting on Results

Researchers interviewed 44 women ages 18 to 39 from the United States and Canada who were found to carry a BRCA mutation. Among the 13 unmarried participants, issues included when to tell a new partner about your genetic risk; how early in a relationship to discuss having children; or if and when to make plans for breast or ovary removal surgery to reduce the risk of developing cancer. These women were concerned about being different and wondered if pregnancy might increase the chances of developing cancer. Some of them didn't feel as normal as other family members.

Many of the 24 participants who were parents reported "staying alive" for their children was a primary goal, and they expressed concern and guilt that they might have passed the mutation to their children. The childless women, meanwhile, reported an urgency to become parents before health issues affected their chances of becoming pregnant or giving birth.

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

"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 other family members," Hamilton says. "Nurses and doctors need to assess how much knowledge a patient has about the implications of having a genetic risk before testing, and consider such factors as a woman's age, marital status, breast cancer diagnosis, presence or absence of children, family history of breast cancer and family's response to genetic testing as important aspects of care."

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Please note: All physicians featured in Discover Rush Online are on the medical faculty of Rush University Medical Center. Some of the physicians featured are in private practice and, as independent practitioners, are not agents or employees of Rush University Medical Center.

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December 2012-January 2013 


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Under the Microscope: Gene Mutations Make Young Women Feel Different

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