We all have inherited family traits – eye colour, height, stature and even mannerisms – which set us apart from others and remind us that we belong to a certain family group.
But while many of these attributes are welcome, there are some genetic traits we’re not be so keen to have – namely, a gene mutation which puts us at an increased risk of developing cancer.
Niki Warner knows only too well the reality of this as not only did she lose her mother, Judit, to cancer, but she discovered they are both carriers of the faulty BRCA1 gene mutation.
Originally from Hungary, Judit was first diagnosed with breast cancer in 2005, then again in 2010 and then, unfortunately, it returned for the third time in April 2016 and this is when Niki realised that her mother was going to die.
“I went into autopilot, finished my exams and spent the summer at home working in a local cafe,” says the 22-year-old, who is currently doing a PhD in Health Psychology at NUIG.
"My mum's family came from Hungary and she went there herself to avail of different treatments. Dad and I used to get out of the house sometimes when it got too much - we went for ice-cream in Carrick-on-Shannon, with embarrassing regularity. Dad was brilliant but it's a very personal and long-winded thing, and I myself haven't come to grips with how I coped. It wasn't a conscious decision, but it's just something you do and get on with."
Judit sadly passed away in August 2016, having also been diagnosed with the genetic mutation, and since then her daughter has been trying to pick up the pieces.
“It’s not been easy and I threw myself into learning what a BRCA mutation is, what being a carrier implies, and have tried to digest any bit of information I can lay my hands on,” says Niki, who has a younger brother called Zoli (16) and two older half-siblings, Zac and Jess.
“I remember the exact moment I found out about the mutation. Mum knew she was terminal at the time, and we were walking on a beach. I don’t know if I fully comprehended what it meant and whether I grasped that I had a 50/50 chance of inheriting the genetic mutation, but she told me that I would also have to be tested.
"It got put to the backburner but, after she passed away, I decided to get tested. I had an amazing GP, Dr Marion Brogan, who sorted my referral, and with Dad's support I went through the process in 2017, which ended up confirming that I too carried the BRCA1 mutation.
“I don’t know if I was shocked, and I don’t think it affected me as strongly as I retrospectively think it should have. But I guess it wasn’t necessarily a bad thing, as I now have the luxury that my Mum wasn’t afforded, which is to have my preventative surgeries and get ahead of the mutation.”
Armed with this information, Niki is extra vigilant about her health and also about her future plans.
"I'm not eligible for screening in Ireland as I am too young, but when I visit my family in Hungary, I get screened there, which is good for my own assurance," she says. "It's more than likely premature but I had a scare last year when they thought they'd found something in my left breast, but thankfully it amounted to nothing.
I'll aim to have my double mastectomy, with reconstruction, around 35 as well
“Once I get to around 30, I suppose it will be time to consider kids as I’d like to have a salpingo-oophorectomy [removal of ovaries and fallopian tubes] by 35. But I’m hopeful that by then, we might see newer prophylactic techniques, such as initially only removing the fallopian tubes and delaying the removal of the ovaries so I don’t have to go through premature menopause, and all the issues surrounding heart, bone and brain health which go hand-in-hand with it.
“However, this is still not fully researched so I’m obviously holding off on that decision for now. I’ll aim to have my double mastectomy, with reconstruction, around 35 as well. But for now, I’m keeping myself as up-to-date as I can be with the preventative options available, and I’ll make those choices when the time comes.”
Niki’s circumstances have also influenced her career choice, as she is now putting all her academic efforts into research to develop an online intervention to help improve coping mechanisms and knowledge following a BRCA mutation diagnosis in Ireland.
“My whole career path has been funnelled into an area of research within psychology I was previously blind to,” she says. “I decided that the psychological care, or extreme lack of, following a BRCA mutation diagnosis was really grim, to the point where when I contacted a helpline, I was told that they didn’t know what a BRCA mutation was. And then, through a cancer support centre, I was put in touch with a woman carrying a mutation who was against her children being tested as she, falsely, thought if they had a positive result it would be hard for them to get health insurance.
“And while the medical team I met with were beyond kind and compassionate, there wasn’t a whisper of a counselling service to be found. It’s near-criminal to inform someone of their genetic predisposition to developing cancer, explain that they’ll probably need to undergo both a preventative double mastectomy and salpingo-oophorectomy, and not refer them for psychological care. The ongoing implications, in relation to childbearing prospects, body image and the cancer-related distress, can be severe.”
Niki says her experience was the driving force to begin her PhD, in 2018, under the supervision of Dr AnnMarie Groarke in NUI Galway and has made her a more empathetic researcher.
"I will learn [through interviews] about the experiences of people diagnosed with carrying a BRCA mutation when they get the news, and I'm keen to learn about what resources they found useful and what they would have liked to happen following their diagnosis. I'm hoping to hear from as many people as possible, to make sure I can accurately portray this experience, and so if anyone was diagnosed with a BRCA1 or BRCA2 mutation in Ireland, I'd love to hear from them. My email is email@example.com.
Take time to process what you've just learned as I think it's so important to try to frame it as a positive
"In addition to my PhD experience, I became part of a group which I met through the Marie Keating Foundation, all of whom carry a BRCA mutation. The social support I get from these ladies is outstanding. We are a mixed bunch, all with different experiences, but I think that becoming a part of this group has helped enormously with my coping. It's a true gift to have such a vast array of experiences to learn from, both for my own personal BRCA journey, but also within the context of my research."
Almost four years after the death of her mother, and the discovery of her own genetic mutation, Niki would advise others who have recently been diagnosed to learn as much about the mutation as possible and seek support from others in the same situation.
“Take time to process what you’ve just learned as I think it’s so important to try to frame it as a positive – you may carry a BRCA mutation, but being aware of it and having the knowledge means you are at such an advantage compared to the generations before you,” she says. “I’m lucky in that I have the chance now to take the preventative measures, and hopefully stay cancer-free.
"Also, there are a few Facebook groups which are nice to be a part of, but predominately I've found conferences such as the Marie Keating Foundation's annual BRCA mutation conference and the BRCALink NI conference to be excellent events for learning about the most recent research in the field. It's also a great place to meet other people in similar circumstances."
The Marie Keating Foundation had planned to host its third annual BRCA Conference for men, women and their families that have tested positive for a BRCA gene mutation on April 24th in the Red Cow Moran Hotel in Dublin. It will now take place via webinar. Full details and registration is available at mariekeating.ie/events.
About the BRCA gene mutation
BRCA1 and BRCA2 are human genes which produce tumour suppressor proteins. These proteins help repair damaged DNA and, therefore, play a role in ensuring the stability of each cell’s genetic material. When this gene is mutated, these proteins are not produced properly and, as a result, cells are more likely to develop additional genetic alterations which can lead to cancer.
Both BRCA 1 and BRCA 2 gene mutation increase the carrier’s likelihood of developing cancer during their lifetime.
Female BRCA1 carriers have a 70 to 85 per cent risk of developing breast cancer during their lifetime, and a 40 to 50 per cent lifetime risk of ovarian cancer.
Males with BRCA1 mutation also have a slightly increased risk of breast cancer.
Female BRCA2 carriers have a 50 to 80 per cent risk of developing breast cancer during their lifetime and a 10 to 40 per cent lifetime risk of ovarian cancer.
Specific inherited mutations in BRCA1 and BRCA2 most notably increase the risk of female breast and ovarian cancers. People who have inherited mutations in BRCA1 and BRCA2 tend to develop breast and ovarian cancers at younger ages than people who do not have these mutations.
Men with BRCA2 mutations, and to a lesser extent BRCA1 mutations, are at increased risk of breast cancer and prostate cancer.
Due to a lack of data on BRCA-mutation carriers in Ireland, there are no comprehensive numbers for precisely how many people are BRCA positive in Ireland.
All women known to carry a BRCA1 or BRCA2 mutation are offered annual breast screening from age 30. Women age 30 are screened with annual MRI and, after the age of 40, digital mammogram is also performed. When a woman reaches 50 years, the radiologist will decide whether it is necessary to continue with MRI in addition to annual mammograms.
Three public hospitals offer genetics services to people considering BRCA testing in Ireland. The majority of genetic screening is carried out in the department of clinical genetics in Crumlin and St James's hospital Dublin.