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

Andrea D Schroeder
2016
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
more » ... 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-today 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 v PREFACE
doi:10.7939/r3v40k46q fatcat:m3z55plg55ecllf3iolzq444ja