Journal of Genetic Counseling

, Volume 22, Issue 1, pp 27–38 | Cite as

A Multi-Case Report of the Pathways To and Through Genetic Testing and Cancer Risk Management for BRCA Mutation-Positive Women Aged 18–25

Case Presentation


Much of the extant literature addressing the psychosocial aspects of BRCA1/2 mutation testing and risk management aggregates mutation carriers of all ages in study recruitment, data analysis, and interpretation. This analytic strategy does not adequately address the needs of the youngest genetic testing consumers, i.e., women aged 18–25. Despite low absolute cancer risk estimates before age 30, BRCA1/2 mutation-positive women aged 18–25 feel vulnerable to a cancer diagnosis but find themselves in a management quandary because the clinical utility of screening and prevention options are not yet well defined for such young carriers. We present three cases, selected from a larger study of 32 BRCA1/2 mutation-positive women who completed or considered genetic testing before age 25, to demonstrate the unique developmental, relational and temporal influences, as well as the challenges, experienced by very young BRCA mutation-positive women as they complete genetic testing and initiate cancer risk management. The first case describes the maturation of a young woman whose family participated in a national cancer registry. The second addresses the experiences and expectations of a young woman who completed genetic testing after learning that her unaffected father was a mutation carrier. The third case highlights the experiences of a young woman parentally bereaved in childhood, who presented for genetic counseling and testing due to intense family pressure. Together, these cases suggest that BRCA1/2-positive women aged 18–25 are challenged to reconcile their burgeoning independence from their families with risk-related support needs. Loved ones acting in ways meant to care for these young women may inadvertently apply pressure, convoluting family support dynamics and autonomous decision-making. Ongoing support from competent healthcare professionals will enable these young women to remain informed and receive objective counsel about their risk-management decisions.


BRCA1/2 genetic mutations Hereditary cancer Family relations Human development Genetic testing stress Family influence on genetic testing 


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Copyright information

© National Society of Genetic Counselors, Inc. 2012

Authors and Affiliations

  1. 1.Division of Cancer Epidemiology and GeneticsNational Cancer InstituteRockvilleUSA
  2. 2.Silver School of Social WorkNew York UniversityNew YorkUSA

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