Living at-Risk for Hereditary Breast Cancer: The Experiences of at-Risk Unaffected Women Who Live in Families Where a BRCA Gene Mutation Could Not be Found

• Author / Creator

  Schroeder, Andrea D

• Harmful mutations in the breast cancer 1 and 2 genes (BRCA1/2) and other breast cancer susceptibility genes are thought to account for less than 30% of familial breast cancer cases. Many affected women (those with a personal history of breast and/or ovarian cancer) who undergo BRCA1/2 genetic testing will be advised that a mutation was not found. Despite the absence of a genetic mutation, both affected and unaffected (those without a personal history of breast and/or ovarian cancer) women living in these families may still be considered to be at an elevated risk for hereditary breast cancer (HBC) on the basis of their family cancer history alone. Similarly, these women may be asked to consider some or all of the risk-management options offered to women who test positive for a known harmful mutation. Little is known about how living with risk for HBC is experienced by at-risk unaffected women who live in BRCA mutation negative families. The focus of the present study was to understand how risk for HBC impacted the day-to-day lives of unaffected women who live in BRCA mutation negative families. van Manen’s hermeneutic phenomenological approach was used to uncover meanings within the experiential descriptions the participants provided. Two to three conversational interviews were conducted with nine women who were between 25 and 58 years of age. All of the participants were being followed by experts at a hereditary breast and ovarian cancer (HBOC) clinic bi-annually; had a projected lifetime risk of at least 20% for developing breast cancer; had not undergone genetic testing; and were aware of an uninformative negative BRCA1/2 genetic test result in the family. Engagement in phenomenological reflection with the participants regarding the four life existentials (lived time, body, space, and relations) revealed “Moving In and Out of the What-Ifs” as an overarching multi-layered essence. An essence refers to the nature of something that makes it what it is. Nine sub-themes interconnected with “Moving In and Out of the What-Ifs”. They were: “Just Moving Along: Living a Normal Life”, “Moving into those Dark Spaces”, “The Body Knows”, “Is there Something Wrong with Me”?, “Markings in Time”, “Living in the Moment”, “Indecision Within the Extended Present”, “Being Cared-For”, and “Keeping Me Grounded”. All of the participants voiced that they spent most of their time in a normal life space where they got on with and enjoyed their lives with an awareness of their risk for HBC in the background. However, certain events or markings in time shifted the participants into dark what-if spaces where they confronted their mortality and experienced anxiety and/or fear over their risk for developing HBC. For many participants it was the close and supportive relationships they had with healthcare providers, family members, and friends that pulled them out of those dark spaces. Additional findings suggested that some of the women felt their concerns about their risk for HBC were not taken seriously by some healthcare providers. Not having their risk taken seriously caused frustration and the feeling that they were outsiders. Some of the women also voiced how some non-medical people in their lives equated their at-risk status to being unhealthy. Although these women referred to themselves as being healthy with risk for HBC, hearing comments from non-medical people that made them feel like they were unhealthy sometimes made them question the state of their health. Thus, the study findings provide a rich understanding of possible ways in which unaffected women may experience living with risk for HBC. These understandings may inform healthcare professionals as they engage in dialogues with other women about living with this risk. For example, living with HBC risk may impact the way a woman experiences time. Some women may direct their energies to what they can experience and enjoy in the present rather than putting things off into the distant future. Additionally, the findings highlight a need to examine gaps in healthcare professionals’ knowledge regarding risk for HBC. There is also a need to explore how knowledge gained through predictive medicine impacts public perceptions of the term “good health”. 

• Subjects / Keywords

  • BRCA negative
  • Hereditary
  • Breast cancer

• Graduation date

  Spring 2016

• Type of Item

  Thesis

• Degree

  Doctor of Philosophy

• DOI

  https://doi.org/10.7939/R3V40K46Q

• License

  This thesis is made available by the University of Alberta Libraries with permission of the copyright owner solely for non-commercial purposes. This thesis, or any portion thereof, may not otherwise be copied or reproduced without the written consent of the copyright owner, except to the extent permitted by Canadian copyright law.