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

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.

Psychiatric implications of cancer genetic testing

“…Some continued to have residual cancer worry and desired to have additional screening yet did not seek out further treatment or screening beyond what was recommended to the general population for their age. 70 Recently, there has been increased attention to individuals who receive a test result of variants of unknown significance (VUS). A VUS is an unclassifiable variant in the gene being studied for which too little data are currently available with which to make an interpretation as a benign polymorphism (ie, no association with disease risk) or a mutation.…”

“…Those who receive negative results may still experience distress as "survivor's guilt." 70 Inconclusive or indeterminate results can also be stressful with their unclear meaning about future risks.…”

Impact of presymptomatic genetic testing on young adults: a systematic review

“…12,16 Two sets of authors reported that the first communication about the genetic risk was made by parents. 14,16 None of the participants was younger than 12 years of age when informed, about half experienced disclosure before they were 18 years old and half between 18 and 21 years old. Many participants stated that the disclosure was made during an occasional encounter and in a casual moment (ie, while driving) or by telephone.…”

“…15 Samples included participants within an age range of 12-39 years, thus including, but not limited to, the age range of 14-30 years identified by the authors as the focus of the search. Eligible studies were conducted in Australia, 12,13,15,17 Canada, 14,18,19 United Kingdom, 11 and the United States. 16 …”

“…All the included studies were published between 2007 and 2014 and were focused on few specific heritable disorders, namely autosomal dominant cerebellar ataxia, 15 familial adenomatous polyposis (FAP), 13,17 familial cardiomyopathy, 11 HBOC, 11,[14][15][16][18][19][20][21] hereditary diffuse gastric cancer, 15 HD 2,12,15,17 and Lynch syndrome. 15 Samples included participants within an age range of 12-39 years, thus including, but not limited to, the age range of 14-30 years identified by the authors as the focus of the search.…”