Belfast cancer research could offer alternative to women facing double mastectomy
As Dr Kienan Savage and his team begin new research into contralateral breast cancer, Gail Bell spoke to two women who have had double mastectomies and who, in future years, might have been spared the ordeal thanks to the groundbreaking work in Belfast
AS CANCER Focus announced its new campaign at the beginning of the year to raise £100,000 for further life-saving, pioneering research into breast cancer, among the many, many Northern Ireland women who immediately sat up and took notice was Dunmurry mum Kathy Farrell.
A mother of three sons, Kathy was just one week away from her 35th birthday when she received her diagnosis of breast cancer in 2011, resulting in a bilateral mastectomy due to what was deemed her 'high risk' status.
As shocking as the news was, though, Kathy, wasn't massively surprised – her mother was 42 when diagnosed and a female cousin fell victim to the disease at 36.
"The strange thing was, that although we were described as a 'high risk' family, the BRCA1 gene was not involved," she says. "They think there may be another gene at fault and that is why ongoing research is so important. A double mastectomy is not surgery to be taken lightly."
And that is exactly the view of senior lecturer in molecular oncology at Queen’s University Belfast, Dr Kienan Savage, who has again teamed up with Cancer Focus (which celebrates its 50th birthday this year ) to help identify those women who could be spared the life-saving, life-changing surgery – as well as those who would still need to have it.
His latest project focuses on contralateral (opposite side) breast cancer and follows on from a transformative piece of work carried out five years ago into mutations of the BRCA1 and BRCA2 genes which represent the most common cause of hereditary breast cancer today.
That research looked at ways of preventing breast and ovarian cancer by investigating how damaged genes – those that cause cancer – can be repaired. It also shone the spotlight on the function of a new group of genes which work alongside BRCA1 in the repair of damaged DNA and, importantly, revealed that a number of families in Northern Ireland and Australia have inherited mutations which "significantly increase" their risk of developing cancer.
Results also suggested that prevention of breast and/or ovarian cancers in women with a BRCA1 mutation could be possible through the use of drugs which suppress oestrogen production and this has lead to a clinical trial in Belfast. Additionally, while carrying out this work, Dr Savage and the team identified 23 different families in Northern Ireland at increased risk of breast and other cancers through mutations in previously identified risk genes not currently tested by the NHS.
"At present, we have no way of identifying which women are at the greatest risk of a second diagnosis and whose lives could be saved by a double mastectomy, so that is the purpose of this new research," he says. "There are also some women currently opting for a double mastectomy who may not need it.
"If successful, we will be able to help reduce the number of women who are having unnecessary surgery and ensure all women receive the best, personalised treatment for their breast cancer here in Northern Ireland."
Currently, he believes such preventative treatment as a bilateral mastectomy comes at a high cost, both to the patient and also to the NHS.
"It has a lot to do with the Angelina Jolie effect and others, but we know it's only useful for those women who are at high risk of getting second breast cancer," Dr Savage says. "We know from studies that, generally, bilateral mastectomy doesn't increase survival, but does increase complications.
"It doubles all the complications, which makes sense, because you're doing twice as much surgery, so this research is focused on trying to identify women who are at risk of getting a second breast cancer, as well as identifying a new cancer from a recurrence.
"We've basically gone back and identified all the women in the last 20 years in Northern Ireland who've got two breast cancers, using the tumour material of 300 women to try to identify markers that might have told us at the time that they were at risk of getting a second breast cancer."
This is all of huge importance for future generations, given the fact the Australian-born academic says that every year, 1,400 women in Northern Ireland will be diagnosed with breast cancer and, over the next 20 years, around 400 will be diagnosed with breast cancer in their opposite breast.
For Kathy, who suffered complications from reconstructive surgery and believes she will need "at least another three" operations before her she can properly get on with life, results from the research will come too late, but she welcomes it for the sake of patients in the future.
"At the time, you go along with the advice because you are in fear of your life, but if there is a more precise way to separate those women who absolutely should have a bilateral mastectomy from those who absolutely shouldn’t, I think that would be great progress," she says.
“I am now stuck in a kind of limbo, waiting for another operation which I hope will help me get my confidence back and help me be brave enough to wear a bikini on the beach again – while I’m still young enough to do it.”
But, for another young Belfast mother, her breast cancer story was very different and while fully supporting advances in research, Linzi Rooney believes prevention is always better than cure.
For that reason, although cancer-free, the 33 year-old opted to have a bilateral mastectomy over a year ago “for the sake of my children and my life”.
A former photographer and silversmith, she runs successful arts and crafts business, Studio Souk, in Ann Street in the city centre and, due to family history, was also classified as ‘high risk’ for breast cancer.
“My mum died from breast cancer when she was only 40 and she battled it for seven years,” says Linzi, mum to seven-year-old Macie and Adeline, aged two. “I have never actually been tested for the BRCA gene, as it was going to take up to 18 months to get a test, but being ‘high risk’ was enough for me to take what some people regarded as drastic action at the time.
“But, even if I don’t have that particular gene, I would still have wanted the surgery and I have no regrets. There is so much still to learn about breast cancer and until we have a clearer picture about it all, being proactive makes perfect sense to me. “
:: For more information about the campaign to help fund the research, visit cancerfocus.org