Sharlene Hesse-Biber and Christine Garrington
For Stephanie, getting tested for the hereditary breast cancer gene was something of a no-brainer. After all, her mother, maternal grandmother and maternal aunt had all been diagnosed with breast cancer, with her mother testing positive for the BRCA2 mutation. For her, this family history seemed to pose a question of when not if she too would be diagnosed, and for years she was left waiting for cancer to come. While frightening and stressful, this knowledge also meant there was time for Stephanie to come to terms with her situation, to understand and consider her medical options and decide what to do. Her doctor was able to readily interpret her family history and encourage her to get tested for the BRCA mutation. She has since done so, and after testing positive she has been able to begin surveillance and actively consider risk reducing surgeries.
Emily’s story was altogether different. When she turned to doctors with her abnormal breast tissue, she received reassurances that it could not possibly be evidence of BRCA-related cancer from her father’s side of the gene pool, because men cannot pass along breast cancer genes. In addition, she had little family medical history information available to support her concerns as a result of the physical and emotional distance between family members on her father’s side. In fact, the full scope of her paternal family history only emerged after she was diagnosed with stage III breast cancer at just 41; she only received her BRCA diagnosis as part of a clinical trial during treatment. Before her BRCA results came back, she had already undergone a mastectomy and oophorectomy.
Stephanie and Emily both have the BRCA gene mutation and breast cancer, but the differences in their experiences throw up a host of crucial questions surrounding how we talk about and deal with breast cancer. These questions don’t just have to do with how we approach breast cancer medically, but also psycho-socially as private individuals and members of wider families.
Those questions include: What proportions and numbers of women inherit the breast cancer gene from their fathers compared with their mothers? Are medical professionals and genetic counsellors equipped with this information and do they take it into consideration? Does inheriting the BRCA gene from your father mean, as it did with Emily, that you are somehow ‘blindsided’ by breast cancer—more traumatised, less prepared, and less equipped to make informed decisions about your future? Why is breast cancer viewed as a ‘female disease’?
What we know about BRCA mutations
BRCA is an acronym for BReast CAncer. Our bodies contain genes that help to suppress tumours associated with cancers. If these genes, known as BRCA 1 and BRCA 2, are mutated, we face an increased risk of getting breast, ovarian and other cancers.
Around 5-10 per cent of ALL breast cancers are linked to the BRCA 1 or 2 mutation. Whilst the figure for men is lower (about 1-2 per cent), around 2,470 men are still diagnosed with breast cancer annually, and 460 die from the disease every year.
Women in general have more awareness of genetic testing for cancer than men and are more knowledgeable about their cancer history. Our research suggests that the source of these gender differences may reside partially in communication patterns within families where men, because of gendered social scripts, are often excluded. This has profound implications not just for the men, who may be carriers of the mutated genes themselves and therefore be at risk of breast or other cancer, but also for their daughters (and sons) who, like Emily, inherit the gene from their father’s side of the family.
As part of a wide-ranging and in-depth programme of research on hereditary breast cancer, we decided to dig deeper into this whole question of ‘parent-of-origin’; i.e. did women who we surveyed and interviewed in our research have different experiences of managing their breast cancer risk if they inherited the gene from their father’s side rather than their mother’s?
Specifically, we wanted to see if there were differences in the rates of cancer diagnosis, the point at which women got tested for the BRCA gene mutation and the psychological impacts of a positive test.
Parent of origin effects
We made use of an anonymous online survey, which was completed by more than 500 women who had been tested for the BRCA gene mutation. Of those women, 457 were BRCA-positive. 236 had inherited the gene from their mother’s side and 172 from their father’s. 49 did not know which side of the family they had inherited it from, so these women were not used for this part of our research. This gave us a final sample size of 408 women, 56 of whom also gave in-depth interviews about their experiences.
One of our most startling findings was that more than twice as many women (42 per cent compared with 20 per cent) who inherited the gene from their father’s side had been diagnosed with breast cancer compared with those who inherited it from their mothers.
If a woman in our study got tested for the BRCA gene mutation before a cancer diagnosis, we described this as a proactive management of her risk of cancer. By proactive risk management, we mean that the individual concerned would ‘have time’ to evaluate the chances of getting hereditary cancer and take actions to lower risk through medical interventions (e.g. mammography, chemotherapy, preventive surgery such as a mastectomy).
Study participants who got tested at the same time or after being diagnosed with cancer were described as reactive.
On the whole, our older participants were as much as 50 times less likely to have been ‘proactive’ in their cancer risk management than the younger participants. This could partly be explained by the fact that testing was not readily available until the mid-90s. In addition, cancer is a disease of ageing—it is a biological fact that the older we get, the higher the risk we have of getting and dying from cancer, which means older women may often find themselves in a reactive position.
However, it was interesting to see that whilst most (68 per cent) of BRCA-positive women tested for gene mutations between the ages of 28 and 48, women who inherited a mutation from their mother tested four years earlier on average than those who inherited a mutation from their father.
Participants with children were nearly twice as likely as those without to be proactive, describing a ‘moral and personal responsibility to disclose information about genetic testing and risk to their children’.
A female disease?
Though these results were notable enough, the most striking finding of all was that having a mother who had survived or died from cancer increased a participant’s odds of being proactive by an incredible 200 per cent. By contrast, a father’s cancer history made little or no difference.
Whilst striking, this finding is not unexpected. In fact, this statistic highlights the effect of the popular (and misleading) idea that BRCA related cancer is a ‘female disease’ that can only be inherited from the mother’s side. Given pre-existing issues around under-reportage of cancer symptoms and diagnosis by men, this figure may also be even higher than 200 per cent.
When we dug a little deeper and looked at how paternal and maternal BRCA inheritance were linked to testing, we found that daughters who inherited the mutation from their mother’s side were 3 times more likely to get tested before they were diagnosed with cancer than those inheriting from their fathers.
In summary, being younger, having children and inheriting the BRCA gene mutation from your mother means you are considerably more likely to get tested ahead of any cancer diagnosis, providing more time to take in what’s happening, understand options and make informed decisions about surveillance or intervention strategies.
Psychological effects
It’s easy to imagine that having more time to take in information and be proactive rather than reactive with risk management is good for women not just physically, but mentally too.
Our research showed that when daughters inherited the gene from their father’s side, they were much more likely to feel “blindsided” by their cancer diagnosis. In essence, this meant that they suffered higher levels of uncertainty and negativity overall. Finding out that they have the mutated gene somehow hit them much harder.
From a young age, Stephanie had access to the tell-tale signs of a breast cancer predisposition in her family, and was able to take control of her health plan with the knowledge that she was likely to eventually be diagnosed with the disease. Her doctors, too, were familiar with this kind of history and were able to give her appropriate guidance. As she recalls her doctor saying, “Well here’s the deal, every woman in your family that has BRCA2 has had breast cancer… you are going to get breast cancer.”
On the other hand, by the time Emily got tested, she was suffering from advanced-stage cancer and the shock of receiving such a staggering diagnosis at just 41. She describes the emotional impact of her situation as just as powerful as the physical, feeling herself “plucked from a lovely life and thrown into a washing machine where everything just tumbled around and nothing [was] ever the same again”
Don’t just ask about your mother
It’s all too easy for medical professionals to ask only about the mother’s side of the family tree. There are even genetic testing sites which still say quite clearly: “Ask your mother!” If our research has one simple clear message, it’s “Don’t just ask your mother, ask your father too!”
Women have a 50/50 chance of inheriting their mutated breast cancer gene from their father, so those involved in genetic testing and treatment must ensure that fathers’ cancer history is given just as much weight as that of mothers.
Emily’s experience of coming to terms with and planning for her cancer predisposition could and should have been better. If lessons are learned from our research, then it will be for other women like her.
Sharlene Hesse-Biber, Ph.D., is an award-winning sociological researcher of hereditary cancer at Boston College. She is currently in the process of conducting a full-scale mixed methods research project on the experience of paternally-inheriting BRCA+ women. For more information see The Pink Underside, her podcast devoted to discussion of the gendered experience of BRCA and psychosocial effects. Christine Garrington is an impact, communications and engagement consultant and trainer who works with individual academics and research centres in the UK and in the United States. She is co-editor of the WorkLife and Child of our Time blogs and presenter and producer of a number of research focused podcasts on human rights, child health development, research methods and linking administrative data.