The final sample consisted of 13 BRCA-negative women from nine families (). Experiential domains related to being mutation-negative for hereditary breast/ovarian cancer centred around six major content areas: (i) experience of living in a multiple-case HBOC family, (ii) communication patterns between mutation-negative and mutation-positive family members, (iii) risk perception: the personal meaning of mutation-negative status, (iv) opinions regarding cancer aetiology, (v) rationale for initial involvement in the BIS and (vi) rationale for continued participation in the BIS.
Experience of living in a multiple-case family
To better understand the choices made by BIS participants, we chose to explore their experiences growing up in multiple-case BRCA families and providing care for relatives. The vigilance that compels these women to seek early diagnostic care is rooted in their heightened awareness of death; proactive measures are taken to ensure the very best health. One participant stated, ‘I was pretty good at having mammograms done, and being that we are from a high-risk family, I requested my doctor to do transvaginal ultrasounds to look at my ovaries’ (49–51 years).
The effects of having seen so many female relatives die from breast and ovarian cancer continued to have a profound impact on all participants: ‘I think it’s overwhelming, because when they find out that there is one half of the family that is dying at age 27, and it’s just a real big wakeup call that you actually have the potential for that, and you can actually see a whole line of the entire family wiped out and it is really clear’ (46–48 years).
All but one participant expressed the fear that cancer would eventually cause their demise: ‘Before we got into the National Institutes of Health (NIH) study, I just assumed that I would get cancer because my grandmother, my mother, cousin and my sister had all developed breast or ovarian cancer. I just thought “Well this is just what is going to happen to me”. And I didn’t realize until I enrolled into the study that there was a chance that I wouldn’t. I mean I didn’t even know that was possible. I just figured it was definite’ (55–57 years).
The sadness and social isolation triggered by watching older family members die created a void related to familial mentoring relationships: ‘…I didn’t have a lot of women in my lifetime, family members in my lifetime that I was talking to about [cancer]. I wished I had a woman there I could talk with but that just wasn’t the case. I mean I had girlfriends and stuff, but we weren’t talking about that kind of thing’ (43–45 years).
Watching the premature deaths of so many young family members contributed to the sense that life was short and needed to be lived to its fullest: ‘…when my mom passed away, I was relatively young…and I think you just grow up a lot faster when you are around that, especially when there is more than one [death] in your family. So, I’ve always kind of made every day count’ (43–45 years).
Longevity and life expectancy meant something different for women from multiple-case families: ‘Honestly, at that time, I was thinking, I was probably going to die young, say in my 40s’ (55–57 years). Another participant explained her lack of long-term planning: ‘I think I kind of lived my life in my 20s and 30s to that extent, you know, not saving for my 401K (retirement plan). All those things that you kind of figure, “Hey, why bother?”’ (43–45 years).
Spirituality helped make sense of living in a multiple-case family and dealing with loss for many participants: ‘My faith makes all of this to a certain degree a whole lot less significant. Because to me the big thing in my life is God and serving him, and when this whole messed up world is over I’m going to heaven to a better place…’ (49–51 years). Another remarked, ‘I would say that families that have a strong faith in God probably, it doesn’t affect them as much’ (55–57 years).
Communication patterns between mutation-negative women and mutation-positive family members
We explored communication patterns between mutation-negative and mutation-positive family members. Study participants reported a strategy of silence pertaining to disclosure and discussion of genetic test results: ‘We made a pact we wouldn’t talk about [our mutation status]… because one of my cousins constantly feared the health insurance [ramifications]’ (55–57 years). There appeared to be two levels of avoidance regarding this issue. First, participants described avoiding disclosure of genetic test results to extended family members, to protect their relatives from guilt related to transmitting an inherited mutation and to avoid provoking anxiety. Second, they specifically described revealing their negative status to immediate family members following disclosure, but then avoiding the topic in future conversations, especially among women with cancer-affected family members: ‘I think at first when I got my results it was very hard for my sister. It was just very hard. And I couldn’t be too happy [around] her because she still had this cancer. It was really hard for me to go around saying “Oh my God I have been spared!” My younger sister has never been tested. She didn’t want to hear one word about anything…so within my family, I just don’t want to talk about it’ (55–57 years).
Several participants reported that their negative test result seemed to damage relationships with mutation-positive relatives: ‘Sadly, my poor cousin is positive. She is just struggling terribly with the results because she is the only one and she feels very, very alone. And there is no amount of talking that’s going to calm her. We don’t relate, and in fact it has created a wedge. I felt like we were on an even playing field before…’ (46–48 years).
Another important communication issue was a behaviour we characterize as ‘inverse jealousy’, in which mutation-positive family members expressed a desire to have another mutation-positive relative with whom to share their experience, rather than wishing to be mutation-negative themselves. Mutation-positive family members were described as isolated: ‘And, she [her cousin] said, “I hate to even say the words that I wish somebody else was positive, but I wish so bad I had somebody else to share these feelings with that totally understood”’ (49–51 years). These perceptions may lead to intensified guilt feelings for mutation-negative women and could create a need for psychosocial intervention among mutation-negative and mutation-positive women.
Risk perception: the personal meaning of mutation-negative status
We tried to understand what being mutation-negative meant for these women and whether they had any lingering concerns related to their familial risk. Although a few participants stated they had an average risk of developing breast or ovarian cancer, 67% of the women (n = 10) felt that, although their risk was not as high as mutation-positive carriers, they continued to have a slightly higher risk than the general population. These women used phrases such as ‘a bit above average’ and ‘elevated but not high risk’. For example: ‘Well, I feel like I have the same risks [as those in the general population] but at the same time, in the back of my mind, I think I’m always going to feel that I might have a little higher risk’ (43–45 years). This impression may reinforce cancer worry.
Although participants seemed hesitant to state that their breast/ovarian cancer risks were at general population levels, knowing that they were BRCA negative was a great relief: ‘As I approach the age where my mother first detected her lump, I become more aware of the relief, that is, to know that I am negative’ (43–45 years). Participants who are mothers spoke poignantly of their relief vis-a-vis their own children, especially in terms of not passing on the mutation and in not leaving their children motherless: ‘When my sister died, my daughter was obviously upset about losing her, but she was just sixteen thinking “this could happen to my mother”. Well, I tried to tell her that that is not going to happen to me in that same way, I may develop cancer, but not at age 46 because I am past that. So I was enormously relieved for her and to be able to tell her that the same thing would not happen to me’ (55–57 years).
Participants’ relief at being mutation-negative was tempered by worries that they might still be at increased risk of breast/ovarian cancer, in part from believing that they might have an unidentified mutation: ‘I think [being negative] means that I am probably not in the mutation they found. And, I’ll stick with [the study] until they find what it is. What it really means to me is that there is probably something else they haven’t found’ (43–45 years). Perhaps our discussions of on-going research about possible genetic and environmental modifiers contributed to this confusion.
Opinions about cancer aetiology
Every study participant expressed strong opinions concerning the terrifying effects of ovarian cancer and its poor prognosis: ‘I don’t know anybody who has survived ovarian cancer. So [breast and ovarian] are really different cancers in my mind’ (55–57 years). Participants expressed the opinion that there was a strong genetic link to ovarian cancer but, surprisingly, many seemed to believe that breast cancer was only minimally explained by genetics. Only one participant of 13 explicitly cited a connection between breast cancer and genetics.
Rationale for initial involvement in the breast imaging study
Interview participants offered three main reasons for joining the BIS: (i) the wish to help others, (ii) personal gain and (iii) the desire to advance science. Although distinct, these reasons are interrelated, forming a representational triptych characterizing the reasons for participating in clinical trials.
Explaining her altruism, one participant said, ‘that’s one of the primary reasons why I engaged in it all…to hopefully make a contribution or help somebody somewhere’ (43–45 years).
Although altruism was a universal theme, participants also reported that they discovered their own personal needs were being fulfilled. Said another participant, ‘with the mammograms and all the other tests they were doing, I thought “geez, I could participate in that and they could catch cancer much sooner doing all these tests”. So then I was more selfish’ (55–57 years).
The desire to advance breast cancer research was an equally important reason for the women to become involved in this study. One participant opined, ‘giving back doesn’t always happen the day you give any kind of service…what we are doing to advance research may not pay off today or pay off 50 years from now or 100 years from now…it gives me comfort knowing that somewhere it will help’ (49–51 years). Participants were keenly aware that their role as study controls was essential to research success.
Rationale for continued participation
All BRCA mutation-negative women gave the same response when asked why they continued BIS participation, despite time away from their families and potentially painful study procedures (e.g. BDL): participants believed they were receiving cutting edge, state-of-the-art screening and diagnostic care that they might not receive elsewhere. One participant quickly clarified what could be misconstrued as criticism of community-based medicine, ‘I’m not criticizing my gynecologist. He is really excellent. Please don’t misunderstand me, but I can get really good diagnostic healthcare [in the study] in terms of mammograms, MRIs and ultrasounds. So I went through that selfish part that there would be good, safe diagnostic care from NIH during that period’ (55–57 years).
Participants believed that the diagnostic tests offered in the BIS would detect cancer at an earlier than usual stage, thus offering greater secondary prevention. One participant remarked, ‘At a very irrational level, I feel like I am safe…if something happens they will find it much earlier at NIH and they will take care of me’ (55–57 years). Several women reported that study participation reinforced their need to stay vigilant because of the devastation that could result if they ‘let their guard down’. Said one participant, ‘it has caused me to relax a little more, but it has also made me realize that you still need to be proactive in your healthcare…you can’t [relax] unless you really want to sign your own death warrant’ (43–45 years).
Another reason cited for continued participation was the assurance it provided regarding the mutation status of their children: ‘my mom died of breast and ovarian cancer and there was a lot in my family…so, I really did most of this for my children, but now I don’t have to worry about them as much…’ (55–57 years).