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In Their Own Words: Treating Very Young BRCA1/2 Mutation-Positive Women with Care and Caution



Young women who have been identified as carrying a deleterious mutation in BRCA1 or BRCA2 face a unique set of challenges related to managing cancer risk during a demographically-dense stage of life. They may struggle with decision-making in the absence of clear age-specific guidelines for medical management and because they have not yet fully developed the capacity to make life-altering decisions confidently. This study sought a patient-centered perspective on the dilemmas faced by 18–24 year olds who completed BRCA1/2 gene mutation testing prior to their 25th birthdays.

Patients and Method

This study integrated qualitative data from three independent investigations of BRCA1/2-positive women recruited through cancer risk clinics, hospital-based research centers, and online organizations. All 32 participants were women aged 21–25 who tested positive for a BRCA1/2 gene mutation between 2 and 60 months prior to data collection. Investigators used techniques of grounded theory and interpretive description to conduct both within and cross-study analysis.


Participants expressed needs for (1) greater clarity in recommendations for screening and prevention before age 25, especially with consideration of early and regular exposure to radiation associated with mammography or to hormones used in birth control, and (2) ongoing contact with providers to discuss risk management protocols as they become available.


Health care needs during the young adult years evolve with the cognitive capacity to address abrupt and pressing change. Specific needs of women in this population include a desire to balance autonomous decision-making with supportive guidance, a need for clear, accurate and consistent medical recommendations. Optimally, these women are best cared for by a team of genetically-oriented providers as part of a sustained program of ongoing support, rather than seen in an episodic, crisis-driven fashion. A discussion of insurance issues and provider-patient cultural differences is presented.


Hereditary breast and ovarian cancer risk for women aged 18–24

Deleterious mutations in the BRCA1 or BRCA2 genes increase a woman's lifetime risk of breast and ovarian cancer. By age 70, approximately 60–70% and 45–55% of BRCA1 and BRCA2 mutation carriers will develop breast cancer, respectively; 40% and 20% of BRCA1 and BRCA2 mutation carriers will develop ovarian cancer [1]. By age 30, however, these risks are 3.4% and 1.5% for breast cancer, and 1–2% for ovarian cancer [2][4]. While these risks are high in relative terms (i.e., compared with age-matched women from the general population), they may be viewed quite differently if presented in absolute terms (e.g., by age 30, 95% will not develop breast or ovarian cancer).

BRCA1/2 mutation testing may be offered once a woman reaches age 18 [5]. However, independent decision-making is often not well-established by this time in life [6]. Evidence-based approaches to management widely-used for older mutation carriers have not been developed (see Table 1), nor have clinical trials been undertaken for mutation-carriers <25 [7]. Women aged 18–24 who pursue BRCA1/2 mutation testing may receive highly personal and emotionally-charged cancer risk information before they are able to confidently manage this risk. The typical primary care provider is often not equipped to bring a balanced, authoritative perspective to the extraordinary concerns faced by these women. Consequently, young carriers experience distress that is both quantitatively and qualitatively different from that of older mutation-positive women [8][9], as they adjust to their mutation status and consider limited proven risk management options.

Table 1. A Suggested Risk Management Strategy for BRCA1/2 Mutation-Positive Women.

Most extant literature regarding psychosocial aspects of BRCA1/2-related risk aggregates participants across the lifespan in recruitment and data analysis, obscuring development of evidence-based risk management tailored to the unique developmental needs of the youngest consumers. We sought a patient-centered perspective on the dilemmas faced by 18- to 24-year-olds as they considered BRCA1/2 genetic testing and risk management.


Study Participants

Data were drawn from three separate qualitative studies; each used a developmental frame to investigate the experiences of BRCA1/2 mutation-carriers during their reproductive years. Beginning in 2003 and 2009, Werner-Lin [10][13] and Hoskins [14][17] independently recruited cancer-free, BRCA1/2-positive women aged 18–35 from the University of Chicago Cancer Risk Clinic and the National Cancer Institute, respectively, plus through national online organizations. All data for those studies was collected either via in-person interviews conducted in the Chicago metro area (Werner-Lin) or via telephone interview based in Bethesda, but targeting women from across the US (Hoskins) Investigators performed these investigations after approval by appropriate local Human Investigations Committees in accord with an assurance filed with and approved by the Department of Health and Human Services, where appropriate. Investigators obtained written informed consent from each participant.

Data from participants aged 18–27 who were ≤25 when they completed genetic testing were eligible for this secondary analysis. We chose to limit analysis to only women aged 25 or younger at the time of testing in order to understand the unique needs of these very young consumers of genetic testing services; due to the absence of clear age-specific guidelines for medical management and the complex and dense demographic shifts that occur during young adulthood (e.g., unpartnered vs. partnered, nulliparous vs. parous), we hypothesized that the needs of women in this age range would be qualitatively different from those of women in their later twenties and thirties. Alphanumeric identifiers were assigned to 26 eligible individuals (see Table 2) All underwent genetic testing between1997–2010. In 2011, a focus group was convened during the national meeting of a support/advocacy organization for women with increased breast and ovarian cancer risk [18]. English-speaking (due to constraints imposed by the researchers' language ability) women aged 18–27 who considered or completed BRCA1/2 mutation testing prior to their 25th birthday were eligible for participation. Six unaffected women aged 21–25 consented to participate.

Data Collection

In-depth interviews.

Investigators independently collected in-depth, semi-structured interview data from 2004–2009. Investigators' interview guide elicited data-rich reports of: family experiences with cancer and genetic testing; impact on family, peer and romantic relationships; beliefs about how cancer risk influences individual development; family formation; and attitudes towards risk-reduction. Table 3 outlines codebook themes. Originally, these data were subsumed in each investigator's study cohort, and participants of all ages combined were analyzed as one group. Data from eligible subjects were re-analyzed to examine whether themes were similar to or different from those of the entire study cohort.

Focus group.

Investigators jointly developed a focus group guide based on findings from their earlier studies to address perspectives on: learning about cancer risk before age 25; cancer risk-management; the impact of genetic testing on identity, sexuality, family and social life; and family formation. After consenting, each participant selected a pseudonym to identify herself and within eight weeks of the 90-minute focus group, all participants completed a family history phone interview.

Data Analysis

All data were audio-recorded and professionally transcribed verbatim. Using the constant comparative method, investigators independently examined a subset of transcripts from each study to generate provisional codes. Once a working list of codes was established, all transcripts were reread and coded. Grounded theory techniques were used to facilitate agreement on a set of codes that best represented each dataset. Investigators approached the separate codebooks as three waves of data collection to capture changes to standard care protocols, public policy addressing insurance and discrimination concerns, and the social perceptions of genetic susceptibility during each time frame (i.e., 2004, 2009, 2011)


Participant Demographics

Data from 32 women aged 21–27 (mean age = 23.2) were included in the current analysis. All were confirmed BRCA1 (n = 19) or BRCA2 (n = 13) mutation carriers. At the time of initial data collection, 13 women were single, 15 were in relationships, and 4 were engaged/married. Two had children, 24 planned to have children, and six did not want children or were undecided. None had developed breast or ovarian cancer. None were pregnant, and none reported pursuing genetic testing to inform family planning. The majority had made active lifestyle choices to support healthy living since learning their mutation status. Five had completed risk-reducing bilateral mastectomy (RRBM) or had the procedure scheduled in the coming months; none had scheduled or completed risk-reducing salpingo-oophorectomy (RRSO).

Provider recommendations

Overall, participants expressed satisfaction with the care they received from the variety of providers with whom they had contact during the process of genetic testing and initiation of risk management. Participants valued providers who acknowledged their priorities, fears, and obligations. Numbers after each participant pseudonym indicate age at the time of data collection. Reza (25) shared:

A doctor [said], “Right now there's really no reason to (have a mastectomy) In the next few years there's probably going to be advances. I'm not telling you to wait fifteen years…” Because in my head it was, why should I wait until after I get cancer? But he was, like, “Wait till you're thirty.” And I was, like, “Okay, that makes sense to me.”

Pam's mother was diagnosed with breast cancer at age 32, so Pam (22) initiated screening at 21 [19]. She was satisfied with her providers' dialogue about risk-reducing surgery, reporting:

“They said the breasts have to go by 25. And between 30 and 35 the ovaries would need to go. I went to the surgeon and talked to her about it, and I gave her my reasons for not wanting to wait, she agreed with me. Which was nice.”

Needing guidance and autonomy.

Nineteen participants knew of the BRCA1/2 mutation in their family prior to their own genetic testing. Yet, many found it difficult to have their requests for screening adequately addressed. Monique (25) remembered, “…everybody was like, ‘oh, you're too young to know what you want.’… the primary response was never, ‘no, you shouldn't do it because medically it's not necessary.”

Incompletely developed genetic and health literacy led several participants to misunderstand their risk of inheriting a mutation, cancer risk estimates associated with being a mutation carrier, or the residual risk of cancer post surgical risk-reduction. Linda (23) completed genetic testing at her gynecologist's suggestion. She recalled receiving her test results:

I got a phone call from my gynecologist saying, “I was afraid of this but you tested positive.” And I was like, “test positive for what? I have no idea what you're talking about.” And she was like, “for the genetic mutation.” Had I been smart I would have seen the genetics counselor first.

A lack of clear expectations about genetic testing and the implications of one's carrier status complicated participants' interpretation of test results. Hannah (19) provided an example of a common misunderstanding of statistics at they relate to genetic risk. She reported:

(T)he way the genetic counselor explained it to us … there's only like a 25% chance of us both having it. [Since I have it], it's less likely [my sister] has it.

Hannah did not understand that one sister's mutation status was unrelated to the other's individual probability of being a mutation carrier [20], [21]. Each child of a mutation-positive parent has a 50% chance of inheriting the mutation.

Participants acknowledged that incomplete health literacy increased their need for expert guidance. Melissa (27) stated, “some of the research is conflicting concerning different things, and it sort of perturbed me that it wasn't presented to me that way. It was presented to me as ‘never take birth control.’” Melissa wanted her providers to directly address the uncertainty regarding birth control pills. Yet, participants also valued autonomy in making choices; they wanted to weigh differing perspectives to come to a decision that best fit their own needs, rather than having their providers make choices for them.

Inconsistent, incomplete recommendations.

Participants expressed frustration at receiving inconsistent, inaccurate, ambiguous or incomplete recommendations from providers regarding their cancer risk management. During the initial phase of their mutation-positive experiences, participants reported receiving information from genetic counselors, oncologists, obstetrician/gynecologists, breast surgeons, and general practitioners, each with her/his own discipline-specific perspective and knowledge base. Hannah reported, “I never took birth control because, in the beginning, they thought those hormones could actually be really negative for me. Now I hear, ‘We were wrong. You should have been taking birth control all these years.’” In the early years of managing women with BRCA1/2 mutations, one major concern related to the possibility that exogenous hormones might further increase the risk of breast cancer – the most frequent syndrome-related malignancy. Newer data suggest that there is little evidence of increased breast cancer risk among mutation carriers using oral contraceptive formulations prescribed since 1975, while a 50% reduction in the risk of BRCA-related ovarian cancer is now widely accepted as an important benefit related to OC exposure [22].

Since BRCA-related male breast cancer penetrance is so much lower than that for females, providers and consumers often mistakenly believe hereditary risk of breast/ovarian cancer is passed only through the maternal bloodline. Ruth recalled a physician telling her that since cancer was present on the paternal side of her family, she “[didn't] have anything to worry about, or maybe we'll start giving you a mammogram a little bit earlier than normal.” Isabelle (22), whose mother developed breast cancer at age 25, was frustrated by her inability to access screening; despite a letter signed by a doctor confirming her need for MRI, another provider refused to start screening before she turned 25. Given her family history, she perceived this to be too late.

Alysha (26), who sought out a great deal of information online, shared “(I was) very frustrated with the conflicting information that doctors were telling me, particularly about screening – when and how often and the consequences of various tests.” Participation in the annual meeting of a consumer advocacy group validated her desire to gather information to feel well-informed. After attending the conference, she reported “I feel much better informed about what I should be doing and what those types of screenings actually do and possible side effects and accuracy.”

Genetic testing at age 18 confirmed Lynn (23) carried a mutation, yet she received the message from her physician that “you don't need a mammogram at this age.” This led her to feel out of place in the healthcare system and frustrated at her inability to access screening. Feeling “paralyzed” by this roadblock, she completed bilateral mastectomy at age 22, believing it to be the only way to effectively manage her cancer risk [17].

Family formation.

Like older mutation-positive women in the two original study cohorts [11], [13], participants were concerned about the challenges presented by HBOC risk and family formation. They discussed the need to plan for varied ways to sequence risk-management and family formation plans to attend confidently to both. Several recalled providers who suggested that they advance family formation goals quickly to support risk-management. Tracy (26) recalled,

I was talking to my genetic counselor, saying “I'm finally ready to get my breasts removed, who should I contact?” She found me the best surgeon in the state, who's wonderful. And she said “If you're still not interested in having kids, they've discovered tubal ligation can reduce your [ovarian cancer] risk. This might be a good option for you.”

Ashley (24) recalled that her physician told her “…to start thinking about having kids before I'm 30 because if you breastfeed before you're 30, it reduces your risk of breast cancer” and she reported thinking, “oh jeez, I gotta get moving here.” Charlotte (25) recalled that physicians she saw in the context of a research study told her to “start having kids at any time, get that done with..,” contributing to her feeling of urgency to complete childbearing so that RRSO could be pursued. Although Ashley experienced this recommendation as informative and supportive, Charlotte was distressed by her perceived need to act quickly.

Reza's mother was in active chemotherapy treatment following her second ovarian cancer recurrence in three years. Reza (25) wanted to undergo RRSO, but her providers advised against it. She shared, “Nobody would give me a reason that seemed real besides ‘you're too young, you'll want to have kids someday.” Sara (22) also met with resistance about her decision to undergo RRSO, despite her certainty that she did not wish to have biological children. She lamented, “I've gone to the doctor and expressed my fear of cancer. There's never been the acknowledgement of, ‘okay I hear you, you don't wanna have kids; if you wanna do surgery now, that's great.’”


Barriers to effective utilization of the healthcare system to reduce mutation-related cancer risk lead young women to feel uncertain about risk-management, concerned about reproductive decisions, and pressured to make quick choices. Participants valued providers who addressed their priorities and obligations. They desperately wanted evidence-based guidance to inform their decisions, yet they reported receiving incomplete and inconsistent recommendations from providers with limited expertise in hereditary cancer risk assessment and management. Participants experienced being treated as too young both to know what they wanted and to make major healthcare decisions independently. Incomplete health literacy led many participants to overestimate their cancer risk, focusing on lifetime rather than shorter-term, and relative rather than absolute risk, indicating the need for providers with quantitative expertise in hereditary cancer genetics to facilitate ongoing education. The combination of inflated short-term risk perceptions, limited proven age-specific risk management strategies, and well-intentioned but inaccurate provider recommendations all created pressure to rush childbearing, so that surgical risk-reduction could be implemented. Utilization of services from genetically-oriented providers may support patients' acquisition of developmentally and medically sound knowledge of cancer risk and risk management. The Affordable Care Act of 2010, which requires group health plans to provide coverage for dependent children of policy-holders until their 26th birthday, may levy additional pressure to decide early about risk-reducing surgery [24].

Discrepancies in responding to cancer risk

Inaccurate cancer risk perceptions may increase distress in young women, cause them to delay genetic testing (if risk is inaccurately perceived as low), or to initiate risk-reducing surgery precipitously (if short-term risk is inaccurately perceived as very high) Rapid uptake of risk-reducing surgery following genetic testing, as seen in our sample, is driven by the perception that cancer risk is imminent. The need to accurately convey short-to-intermediate cancer risk (over 5–10 years) represents a major challenge.

Our data suggest discrepancies may exist between patient and provider responses to inherited cancer risk, further indicating the need for providers with expertise in both cancer genetics and the developmental needs of adolescents transitioning to adulthood. Providers may have difficulty believing that a 20-year-old faces similar risks to those observed in older mutation carriers. Trust in provider recommendations seemed to erode as differences between provider and consumer expectations grew. Providers may suggest women in their 20s postpone risk-reducing surgery until after childbearing to reinforce that imminent cancer risk is quite low, or because they assume young patients prioritize having children. Yet, recommendations linking risk management and family formation may signal to patients that physicians perceive short-term risk of cancer to be very high. When young adults are not ready to commit to life-long partnerships or to become parents, these well-intentioned recommendations are interpreted as a failure to be taken seriously. Striking generational and gender socialization differences may exist between patients and providers, leaving young women struggling to feel understood by those helping them make decisions about their care. Optimally, providers can convey the caring expected from an expert, while maintaining the neutrality necessary to guide patients confidently to individually-tailored and thoughtful decisions.

Implications for practice

Ideally, young women would learn all the facets of risk management early in their experience as mutation carriers, allowing them to manage risk confidently. However, our data suggest that rapid developmental changes common during the transition to adulthood may necessitate a prolonged period of care for young women, whose needs are distinct from older mutation carriers for whom standard practice guidelines and clinical trials were designed. In the context of limited evidence, young women need to work methodically with providers who are knowledgeable and non-judgmental, to avoid rushing into decisions inconsistent with their life goals. Provider recommendations may be carefully tailored to attend to developmental readiness while still providing an integrated approach to care. Such a model may enable ongoing connection with patients as shifting life circumstances precipitate interest in more aggressive risk-reduction strategies.

Limitations & Strengths

Participants received care over a thirteen-year period during which the treatment of BRCA-related cancer risk evolved. We maintained separate codebooks for each study to ensure temporal differences in standards of care and public policy were accounted for during analysis. All three studies recruited women who completed genetic testing before age 25. However, none recruited individuals aged 18–20 at the time of data collection. None enrolled racial or ethnic minority women, subpopulations which are under-represented in high-risk clinics. Uptake of genetic testing remains particularly low for women of African descent [25], and is further complicated by their higher incidence of genetic variants that are uninformative regarding risk stratification [26].


Young BRCA1/2 mutation carriers comprise a unique subset of high-risk women who require particularly thoughtful individualized expert care to meet their complex needs. Insuring accurate understanding of absolute short-term cancer risk is essential to informed decision-making.

Author Contributions

Conceived and designed the experiments: LMH AWL MHG. Performed the experiments: LMH AWL. Analyzed the data: LMH AWL. Contributed reagents/materials/analysis tools: LMH AWL. Wrote the paper: LMH AWL MHG.


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