Abstract
BackgroundLittle is known about the experience of young women who become aware of their parent’s BRCA1 or BRCA2 (BRCA) mutation status as adolescents or young adults. There is also currently a gap in the literature pertaining to those who are found to be negative for their familial mutation. We aimed to investigate the experience of these mutation-negative young women from hereditary breast and ovarian cancer (HBOC) families.MethodsUsing a semi-structured questionnaire we interviewed 8 women. All of the women were non-carriers of their familial mutation and had learned of the mutation in their family as adolescents or young adults at least 6 months prior to undergoing genetic testing. All interviews were audio recorded, transcribed, and independently analyzed by the investigators. This was followed by an in-depth cross-case analysis, enabling the formulation of emergent themes.ResultsThe women’s age ranged from 22 to 37 years old and all were of Ashkenazi Jewish descent. Prominent emergent themes from the interviews included the impact of how and when the familial mutation status was disclosed, the factors influencing when a young woman chooses to undergo predictive genetic testing, the predictors of post-test adjustment and risk perception, as well as the impact of familial cancer experience versus the familial mutation.ConclusionsBy eliciting detailed patient narratives we have begun to show that this generation of BRCA mutation-negative young women is likely still affected by the degree of cancer history in their family, even with their understanding of the genetic contribution to disease. Larger studies with tightened participant characteristics, as well as studies involving women from different cultural backgrounds, are needed to further define the experience and needs of true negative young women from HBOC families.
Highlights
Little is known about the experience of young women who become aware of their parent’s BRCA1 or BRCA2 (BRCA) mutation status as adolescents or young adults
Research has uncovered many of the psychosocial elements surrounding BRCA genetic testing, as well as the dynamics of hereditary breast and ovarian cancer (HBOC) families
By eliciting direct patient narratives we have found that this group of women is likely to be affected in different ways by the degree of cancer history in the family, even with their understanding of the genetic contribution to the disease
Summary
Little is known about the experience of young women who become aware of their parent’s BRCA1 or BRCA2 (BRCA) mutation status as adolescents or young adults. We aimed to investigate the experience of these mutation-negative young women from hereditary breast and ovarian cancer (HBOC) families. Since the discovery of the BRCA genes in the mid 1990’s much information has been gained regarding the cancer risks to both men and women who carry a germline mutation in one of these two genes. It is known that parents often disclose their carrier status to their adolescent children, especially mothers to their daughters [2,3,4,5]. Little is known regarding what becomes of these adolescents as they grow to be young adults carrying the knowledge that their parent carries a BRCA mutation. Of particular interest here are the views of women growing up with the possibility of being at high risk for developing cancer and how this experience might influence the various aspects of their lives
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