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

  • Lindsey M. Hoskins
  • Allison Werner-Lin
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 


  1. Anaf, S., Drummond, C., & Sheppard, L. A. (2007). Combining case study research and systems theory as a heuristic model. Qualitative Health Research, 17(10), 1309–1315.PubMedCrossRefGoogle Scholar
  2. Anderson, R. A., Crabtree, B. F., Steele, D. J., & McDaniel, R. R., Jr. (2005). Case study research: the view from complexity science. Qualitative Health Research, 15(5), 669–685.PubMedCrossRefGoogle Scholar
  3. Arnett, J. J. (2000). Emerging adulthood: a theory of development from the late teens through the twenties. American Psychologist, 55(5), 469–480.PubMedCrossRefGoogle Scholar
  4. Arnett, J. J., & Galambos, N. L. (2003). Culture and conceptions of adulthood. New Directions for Child and Adolescent Development, 100, 91–98.PubMedCrossRefGoogle Scholar
  5. Bronfenbrenner, U. (1979). The ecology of human development: Experiments by nature and design. Cambridge: Harvard University Press.Google Scholar
  6. Census, US (2009). Estimated median age at first marriage, by sex: 1890 to 2009.Google Scholar
  7. Chen, S., & Parmigiani, G. (2007). Meta-Analysis of BRCA1 and BRCA2 penetrance. Journal of Clinical Oncology, 25(11), 1329–1333.PubMedCrossRefGoogle Scholar
  8. Chen, S., Iverson, E. S., Friebel, T., Finkelstein, D., Weber, B. L., Eisen, A., et al. (2006). Characterization of BRCA1 and BRCA2 mutations in a large United States sample. Journal of Clinical Oncology, 24(6), 863–871.PubMedCrossRefGoogle Scholar
  9. Clark, A. S., & Domchek, S. M. (2011). Clinical management of hereditary breast cancer syndromes. Journal of Mammary Gland Biology and Neoplasia, 16(1), 17–25.PubMedCrossRefGoogle Scholar
  10. Daly, M., Farmer, J., Harrop-Stein, C., Montgomery, S., Itzen, M., Wagner Costalas, J., et al. (1999). Exploring family relationships in cancer risk counseling using the genogram. Cancer Epidemiology, Biomarkers and Prevention, 8, 393–398.PubMedGoogle Scholar
  11. Evans, J. P., Skrzynia, C., Susswein, L., & Harlan, M. (2005/2006). Genetics and the young woman with breast cancer. Breast Disease, 23, 17–19.Google Scholar
  12. Feagin, J. R., Orum, A. M., & Sjoberg, G. (1991). A case for the case study. Chapel Hill: University of North Carolina Press.Google Scholar
  13. Hamilton, R., Williams, J. K., Bowers, B. J., & Calzone, K. (2009). Life trajectories, genetic testing, and risk recution decisions in 18-39 year old women at risk for hereditary breast and ovarian cancer. Journal of Genetic Counseling, 18, 147–159.PubMedCrossRefGoogle Scholar
  14. Hoskins, L. M. (2010). Negotiation of health risks and risk management for young adult BRCA1/2-positive women: Implications for partnering and family formation. Unpublished doctoral dissertation, University of Maryland, College Park.Google Scholar
  15. Hoskins, L. M., & Greene, M. H. (2012). Anticipatory loss and early mastectomy for young female BRCA1/2 mutation carriers. Qualitative Health Research. Google Scholar
  16. Hoskins, L. M., Roy, K., Peters, J. A., Loud, J., & Greene, M. H. (2008). Disclosure of positive BRCA 1/2-mutation status in young couples: The journey from uncertainty to bonding through partner support. Families, Systems & Health, 26, 296–316.CrossRefGoogle Scholar
  17. Hoskins, L. M., Roy, K. M., & Greene, M. H. (2012). Toward a new understanding of risk perception among young female BRCA1/2 “previvors”. Families, Systems & Health, 30(1), 32–46.CrossRefGoogle Scholar
  18. Kenen, R., Ardern-Jones, A., & Eeles, R. (2006). "Social separation" among women under 40 years of age diagnosed with breast cancer and carrying a BRCA1 or BRCA2 mutation. Journal of Genetic Counseling, 15, 149–162.PubMedCrossRefGoogle Scholar
  19. Lodder, L. N., Frets, P. G., Trijsburg, R. W., Meijers-Heijboer, E. J., Klijn, J. G. M., Seynaeve, C., et al. (2002). One year follow-up of women opting for pre-symptomatic testing for BRCA1 and BRCA2: emotional impact of the test outcome and decisions on risk management (surveillance or prophylactic surgery). Breast Cancer Research and Treatment, 73, 97–112.PubMedCrossRefGoogle Scholar
  20. Manne, S., Dougherty, J., Veach, S., & Kless, R. (1999). Hiding worries from one’s spouse: protective buffering among cancer patients and their spouses. Cancer Research, Therapy and Control, 8, 175–188.Google Scholar
  21. McGoldrick, M., Carter, B., & Garcia-Preto, N. (2011). Overview: The life cycle in its changing context: Individual, family and social perspectives. In M. McGoldrick, E. A. Carter, & N. Garcia-Preto (Eds.), The expanded family life cycle: Individual, family, and social perspectives (3rd ed.). Boston: Allyn & Bacon.Google Scholar
  22. Narod, S. A. (2010). BRCA mutation in the management of breast cancer: the state of the art. Nature Reviews Clinical Oncology, 7(12), 702–707.PubMedCrossRefGoogle Scholar
  23. Pruthi, S., Gostout, B. S., & Lindor, N. M. (2010). Identification and management of women with BRCA mutations or hereditary predisposition for Breast and Ovarian Cancer. Mayo Clinic Proceedings, 85(12), 1111–1120.PubMedCrossRefGoogle Scholar
  24. Samuel, J. C., & Ollila, D. W. (2005–2006). Prophylaxis and screening options: Recommendations for young women with BRCA mutations. Breast Disease, 23, 31–35.Google Scholar
  25. Sobel, S., & Cowan, C. B. (2003). Ambiguous loss and disenfranchised grief: the impact of DNA predictive testing on the family as a system. Family Process, 42(1), 47–57.PubMedCrossRefGoogle Scholar
  26. Stake, R. (2000). Case studies. In N. K. L. Denzin & Y. S. Lincoln (Eds.), Handbook of qualitative research (pp. 435–454). Thousand Oaks: Sage.Google Scholar
  27. Tiggemann, M., & Pennington, B. (1990). The development of gender differences in body-size dissatisfaction. Australian Psychologist, 25(3), 306.CrossRefGoogle Scholar
  28. van Oostrom, I., Meijers-Heijboer, H., Lodder, L. N., Duivenvoorden, H. J., van Gool, A. R., Seynaeve, C., et al. (2003). Long-term psychological impact of carrying a BRCA1/2 mutation and prophylactic surgery: a 5-year follow-up study. Journal of Clinical Oncology, 21, 3867–3874.PubMedCrossRefGoogle Scholar
  29. Watson, M., Foster, C., Eeles, R., Eccles, D., Ashley, S., Davidson, R., et al. (2004). Psychosocial impact of breast/ovarian (BRCA1/2) cancer-predictive genetic testing in a UK multi-centre clinical cohort. British Journal of Cancer, 91(10), 1787–1794.PubMedCrossRefGoogle Scholar
  30. Werner-Lin, A. (2007). Danger zones: risk perceptions of young women from families with hereditary breast and ovarian cancer. Family Process, 46(3), 335–349.PubMedCrossRefGoogle Scholar
  31. Werner-Lin, A. (2008). Formal and informal support needs of young women with BRCA mutations. Journal of Psychosocial Oncology, 26(4), 111–132.PubMedCrossRefGoogle Scholar
  32. Werner-Lin, A. (2010). Building the cancer family: family planning in the context of inherited breast and ovarian cancer risk. Journal of the Society for Social Work and Research, 1(1), 26–38.CrossRefGoogle Scholar
  33. Werner-Lin, A., & Gardner, D. S. (2009). Family illness narratives of inherited cancer risk: continuity and transformation. Families, Systems and Health, 27(3), 201–212.CrossRefGoogle Scholar
  34. Werner-Lin, A., Hoskins, L., & Rubin, L. (2011). Genetic counseling and cancer screening in BRCA1/2 mutation carriers aged 18–25. Oral presentation, 12th International Meeting on Psychosocial Aspects of Hereditary Cancer (IMPAHC), Amsterdam, Netherlands.Google Scholar
  35. Werner-Lin, A., Hoskins, L., Doyle, M., & Greene, M. (2012). “Cancer doesn’t have an age”: Genetic testing and cancer risk management in BRCA1/2 mutation-positive women aged 18–24. Health, 1–19.Google Scholar
  36. Yin, R. K. (1988). Case study research: Design and methods. Beverly Hills: Sage.Google Scholar

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

Personalised recommendations