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Young women with the BRCA gene mutation face complex decisions about life plans

Date:
September 25, 2012
Source:
Wolters Kluwer Health: Lippincott Williams & Wilkins
Summary:
A study has 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.

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."

The Study

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.

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 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 one's 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, 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."


Story Source:

The above story is based on materials provided by Wolters Kluwer Health: Lippincott Williams & Wilkins. Note: Materials may be edited for content and length.


Journal Reference:

  1. Rebekah Hamilton. Being Young, Female, and BRCA Positive. AJN, American Journal of Nursing, 2012; DOI: 10.1097/01.NAJ.0000421021.62295.3b

Cite This Page:

Wolters Kluwer Health: Lippincott Williams & Wilkins. "Young women with the BRCA gene mutation face complex decisions about life plans." ScienceDaily. ScienceDaily, 25 September 2012. <www.sciencedaily.com/releases/2012/09/120925091342.htm>.
Wolters Kluwer Health: Lippincott Williams & Wilkins. (2012, September 25). Young women with the BRCA gene mutation face complex decisions about life plans. ScienceDaily. Retrieved September 30, 2014 from www.sciencedaily.com/releases/2012/09/120925091342.htm
Wolters Kluwer Health: Lippincott Williams & Wilkins. "Young women with the BRCA gene mutation face complex decisions about life plans." ScienceDaily. www.sciencedaily.com/releases/2012/09/120925091342.htm (accessed September 30, 2014).

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