College of Nursing, Rush University, Chicago, IL, USA.
Am J Nurs. 2012 Oct;112(10):26-31, quiz 46, 32. doi: 10.1097/01.NAJ.0000421021.62295.3b.
Women who carry a BRCA1 or BRCA2 gene mutation face a risk of developing breast or ovarian cancer at an earlier age than women without such a mutation. Relatively little is known about the psychosocial consequences-especially regarding marriage and childbearing-in young women who test positive for one of these mutations.
In 2006, participants were recruited from Web sites for women with breast cancer or BRCA gene mutations. Forty-four women ages 18 to 39 from 22 states and Canada who had had genetic testing and were found to carry a BRCA mutation were interviewed by phone or e-mail. A qualitative, grounded theory analysis was performed on the data, focusing on the participants' being young and having had genetic testing for the BRCA mutation. The findings reported here focus on three characteristics of the participants-whether or not they were married, had children, or had a breast cancer diagnosis-and how those characteristics were affected by the women's knowledge of their genetic risk.
Among the 13 unmarried participants, issues of when to disclose information about their genetic risk in intimate relationships were discussed. Many of the 24 participants who had children reported "staying alive" for their children as a primary goal; the childless women reported an urgency to have children. Of the 21 who had a breast cancer diagnosis, the youngest was 24 years old, and several said knowledge of their genetic risk influenced their decision to have the unaffected breast removed prophylactically.
A sense of being different and not understood was expressed in these interviews. These findings suggest that nurses should be aware of psychosocial issues, especially those surrounding marriage and childbearing, in their interactions with young women who carry a BRCA1 or BRCA2 gene mutation.
携带 BRCA1 或 BRCA2 基因突变的女性比没有此类基因突变的女性更早面临罹患乳腺癌或卵巢癌的风险。对于这些突变检测呈阳性的年轻女性，她们的社会心理后果（尤其是关于婚姻和生育的后果）相对知之甚少。
2006 年，研究人员从乳腺癌或 BRCA 基因突变女性的网站招募了参与者。来自 22 个州和加拿大的 44 名年龄在 18 至 39 岁的女性接受了基因检测，结果发现她们携带 BRCA 基因突变。通过电话或电子邮件对这些女性进行了定性、扎根理论分析，重点关注参与者年龄较小且接受了 BRCA 基因突变的基因检测。这里报告的研究结果主要集中在参与者的三个特征上——她们是否已婚、是否有孩子或是否患有乳腺癌，以及这些特征如何受到她们对遗传风险的了解的影响。
在 13 名未婚参与者中，讨论了在亲密关系中何时披露遗传风险信息的问题。许多有孩子的 24 名参与者表示，“为了孩子而活着”是他们的首要目标；没有孩子的女性则表示迫切需要孩子。在 21 名患有乳腺癌的女性中，最年轻的 24 岁，其中几人表示，了解自己的遗传风险影响了她们决定预防性切除未受影响的乳房。
这些访谈中表达了一种与众不同和不被理解的感觉。这些研究结果表明，护士在与携带 BRCA1 或 BRCA2 基因突变的年轻女性互动时，应该意识到社会心理问题，尤其是与婚姻和生育有关的问题。
