Experience of BRCA1/2 mutation-negative young women from families with hereditary breast and ovarian cancer: a qualitative study

Hereditary Cancer in Clinical Practice

Nora Wong³  Carmen G Loiselle¹  Alicia Navarro de Souza²  Lynn Macrae³ 

[1] School of Nursing, McGill University, Montreal, Quebec, Canada;Faculty of Medicine, Federal University of Rio de Janeiro, Rio de Janeiro, Brazil;Department of Medical Genetics, Jewish General Hospital, Montreal, Quebec, Canada

关键词: Non-carrier;    Women;    Hereditary cancer;    Breast cancer;    Cancer;   

Others  :  805951
DOI  :  10.1186/1897-4287-11-14

 received in 2013-01-14, accepted in 2013-08-30,  发布年份 2013

【 摘 要 】

Background

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. 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.

Methods

Using 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.

Results

The 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.

Conclusions

By 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.

【 授权许可】

   
2013 Macrae et al.; licensee BioMed Central Ltd.

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