6 Emerging Adults 161psychosocial implications of new genomic technologies for family life. She maintains a
small private practice working with families at the end of life. Lindsey M. Hoskins, PhD,
LCMFT, was a postdoctoral fellow in the Clinical Genetics Branch of the Division of
Cancer Genetics and Epidemiology at the National Cancer Institute. She maintains
a robust private practice in which she works with couples and families facing medical
and genomic challenges.
Background
Deleterious mutations in the BRCA1 or BRCA2 genes increase a woman’s life-
time risk of breast and ovarian cancer. By age 70, approximately 60% to 70%
and 45% to 55% of BRCA1 and BRCA2 mutation carriers will develop breast
cancer, respectively; 40% and 20% of BRCA1 and BRCA2 mutation carriers will
develop ovarian cancer (Clark & Domchek, 2011). By age 30, however, these
risks are 3.4% and 1.5% for breast cancer, and 1% to 2% for ovarian cancer (Chen
& Parmigiani, 2007; Evans, Skrzynia, Susswein, & Harlan, 2005/2006). BRCA1/2
mutation testing may be offered once a woman reaches age 18 (Trepanier et al.,
2004). However, independent decision making is often not well established by
this time in life (Arnett, 2000). Targeted genetic therapies are not yet available.
Further, for women under age 25, evidence-based approaches to risk manage-
ment have not been developed, nor have clinical trials been undertaken (Pruthi,
Gostout, & Lindor, 2010; Samuel & Ollila, 2005/2006). Surgical removal of
breast and ovarian tissue remains the most effective method of risk reduction.
These options may not be appropriate, and are rarely acceptable to women aged
18 to 24. Women aged 18 to 24 who pursue BRCA1/2 mutation testing may
receive highly personal and emotionally charged cancer risk information before
they are able to confidently deliberate about and manage this risk.
The Case of Emily
Emily is a 22-year-old of Ashkenazi Jewish descent who tested positive for
a BRCA1 mutation at the age of 19. Her maternal aunt died of breast can-
cer at the age of 22, before Emily’s birth, and Emily’s mother died of breast
cancer at the age of 43, when Emily was just starting kindergarten at age 5.
Emily’s father raised her with significant support from Emily’s much older
half-sister, Susan, who was a product of her mother’s first marriage. Emily
lives with her father, reports that while she supports him financially, they
are not very close. She maintains close relationships with her mother’s only
surviving sister, Jane, who was BRCA1 mutation-negative; and her maternal
grandmother, Anna, who was never tested. She says of her early childhood,
“that was the hardest point or part of my life (was) growing up with only a
father. But my grandmother was like a mother figure for me.” When asked
what she knew about her mother’s illness, she says, “Just what my older
sister told me. ‘Cause it’s such a young age, I think I kind of blocked it out.”
With few memories of her own, Emily relies on her family for information.
But, she says, “My father and I weren’t really talking about it. So I’d only
hear from my grandmother and my sister and they really didn’t want to talk
about it, because they thought I would get upset.”