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fa m i ly m at t e r s

If I wanted to see my children get married if I wanted to live then I had to have the operation
emma parlons was told she had an 85 per cent chance of getting breast cancer. this left her facing the hardest decision of her life
words Johanna Derry photography Abigail Zoe Martin

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fa m i ly m at t e r s

i didnt want to live my life waiting for the day i found out i had cancer

anyone with a good grounding in genetics will know, our futures are mapped out for us in our basic make-up by the DNA in our cells, which dictates not just what we look like but whether we develop diseases later in life. Research has now shown that, for some, the chance of developing breast cancer is already written in their genetic make-up five to ten per cent of breast cancer patients carry an inherited faulty BRCA gene. Emma Parlons, a successful PR marketing consultant living in north London with her husband and two children, discovered she had inherited a faulty gene that could lead to breast cancer. My first cousin Jo went to the doctor with a lump in her breast which turned out to be cancerous, she remembers. My mother called me and said, Jos found out her cancer is linked to a gene called BRCA1. Your cousins are getting tested for it. Do you want to be?

As...

pink science: its in the genes

Campaigns scientists work on lots of different genetic mutations. Three of the genes whose mutations we know are responsible for causing hereditary breast cancer are BRCA1, BRCA2 and Gen1. BRCA1 and BRCA2 produce proteins essential for repairing damaged DnA in cells. BRCA1 plays a role in copying the correct DnA so it can be used to repair breaks. BRCA2 binds to and regulates another protein to fix these breaks. Mutations in these two genes cause between five and ten per cent of all breast cancer cases. This is because people with mutated BRCA1 or BRCA2 genes arent able to properly repair damaged DnA in their cells, increasing their risk of developing cancer. A woman with either of the mutated BRCA genes has an 80 per cent chance of developing breast cancer before the age of 80 much higher than the average, which is around 12 per cent. Gen1 is similar to BRCA2, playing a critical role in repairing strands of broken DnA linked to inherited breast and ovarian cancer. Breast Cancer Campaign grant holder Professor Stephen West discovered that GEN1 plays a critical role in the final step of DNA repair, unknotting bridges created between DnA strands as they are fixed. When GEN1 doesnt work as it should, these strands remain tangled, leaving the cell to reproduce itself with faulty information that can lead to the cells becoming cancerous.

mma already knew cancer ran in her family. As well as her first cousin, three of her great aunts had had either breast or ovarian cancer, and one of their granddaughters, Emmas second cousin, had breast cancer in her early thirties, giving Emma a family history that was significant enough to put her at risk of developing the disease too. A healthy BRCA1 gene helps repair damaged DNA, but if you inherit a mutated version of it, damaged DNA within cells is not properly repaired, increasing the risk that cancer will develop as the cells divide and multiply (see panel, right). Theyre very thorough in the NHS and talked me through everything, asking me what I would do with the information if I tested positive for the gene, says
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Emma. I ran away from the whole thing for a couple of months. Then I realised that if I knew, I would be able to do something about it, so I went back and got my blood tested. When the results came back, she was confronted with an uncomfortable truth she had the BRCA1 gene mutation. I was told in no uncertain terms I had an 85 per cent chance of getting breast cancer and a 40 per cent chance of getting ovarian cancer. The first step was to discover whether she already had cancer. Emma had an MRI scan and a mammogram to find out. Its very emotional going through the screening. You tell yourself that you do have cancer so you can cope.

She was faced with an incredibly difficult choice: she could live with the knowledge that at some point in the future, she could develop breast or ovarian cancer; or she could have both her breasts and her ovaries removed and vastly reduce the possibility of developing the disease. Presented with the truth of this grim reality, Emma and her family faced one of the toughest decisions of their lives.

he first thing to do was to explore every eventuality. I was told I could be regularly screened and that they could try and catch any cancer early if I didnt want the operation, she says. One surgeon told me about a patient hed seen whod found out she had the

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fa m i ly m at t e r s

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dr Jo morriS

one step at a time working towards a cure

reast Cancer Campaign is committed to funding scientific research that will help scientists to understand inherited breast cancer better. This will allow people with a family history of the disease to get more definitive answers about the risk they might have of developing the disease in their future. In 2006, Dr Jo Morris was awarded a Scientific Fellowship by the charity worth over half a million pounds to continue her research into the BRCA1 gene. Since then her world-class research has attracted a lot of attention and its success has led to her joining the internationally renowned Institute of Cancer Research in Birmingham. Here, she is now building her own research group where she can also train some of the young breast cancer scientists of the future and continue to lead the way in BRCA research. Central to Dr Morriss exciting research programme is a project that will be the first in the world to study the role a newly discovered gene plays in inherited breast cancer. She believes that this particular gene is vital for keeping BRCA1 working properly inside breast cells, repairing damage and stopping cancer forming. She wants to find out if having faults in certain parts of the BRCA1 gene and not others affects how the new gene works. This research could then lead to a test that might better predict which patients with a family history of breast cancer will go on to develop the disease. Dr Morris said, I am very proud to be a Campaign Scientific Fellow. The charity is at the forefront of breast cancer research and its continued support of young scientists like me is absolutely vital to unlocking the secrets of the disease. I hope my findings will enable development of a test that will provide more conclusive results to people with the BRCA1 gene mutation. This could help overcome the uncertainty they currently face and make a real difference to women with inherited breast cancer.
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BRCA1 gene mutation when she was my age, 37, and that shed only just developed cancer, ten years later. The choice was hers to make. I didnt want to live my life waiting for the day I found out I had cancer. My husband asked me what advice I would give to our daughter. I would tell her to get it done straight away, I replied. If I wanted to see my children get married if I wanted to live then I had to have the operation.

generational genetics:

emmas family history

Gene Carrier Had CanCer

With her family history Emma had a high chance of carrying the BRCA1 mutation

3 out oF 3

nce the decision was made, Emma felt the hardest part of her journey was over. She went with her mother to seek out the advice of a number of surgeons to find out what her options were for the surgery, and started all the preparation for the operation, including a psychological assessment. Before the operation, she also had advice from the staff at the Royal Marsden Hospital on how to explain to her children what was happening. They were old enough to understand something was going on, and it was essential to Emma and her husband that their needs were looked after during the process. For Emma, there was one other condition of the surgery. I mentally geared myself up for the operation, she says, but I needed the surgery to leave me exactly as I was before. I could do it, but only if I still had boobs. At the start of 2010, Emma had a double mastectomy with immediate reconstructive surgery. All the flesh from my breasts was cut away, all the way back to the chest bone. I had told my surgeon, Mr Gui, that I didnt want to wake up flat-chested. He reconstructed both my breasts in the same surgery, not letting me out of the operating theatre until he was satisfied they were right. I woke up with boobs

Great aunts

GrandFatHer

of Emmas great aunts died from either breast or ovarian cancer, making them all likely to be BRCA1 carriers

all

1st Cousin onCe removed

aunt

FatHer

of Emmas fathers generation carry the BRCA1 mutation, but so far have remained in good health

FiVe

seCond Cousin

Cousins

emma

of Emmas generation tested positive for the mutated BRCA1 gene, and two of these have had breast cancer

i needed the surgery to leave me exactly as i was before. i could do it, but only if i still had boobs

and he had managed to keep my nipples. It was amazing no one would know the difference.

she says calmly. Medically theres lots of things doctors are able to do so, to be honest, I didnt mind going into the menopause early. I knew Id be able to continue to live a normal life without experiencing the usual side effects of the menopause, like hot flushes. Today, following the double surgery, Emmas odds of developing breast cancer have dropped dramatically she now has only a four per cent chance of getting the disease. When I woke up, I felt amazing, and it wasnt just the after-effects of the anaesthetic. It was over and I had saved my life. I felt very lucky.

All this information is there in our genetic make-up, and were just starting to learn about it. We want to support Dr Morris research so that, by the time my daughter takes the test, she will have more options. The women who have cancer are amazing I am just lucky. Someone told me I was going to get run over by a bus, and I was able to move out of the way. Ive been given this opportunity to carry on living, and now I want to do everything I can to help further the research, so that I feel like Ive done something to make a difference for other women like me.

year after her first operation, Emma underwent surgery to have her ovaries removed. Having an oophorectomy causes early onset of the menopause, and the operation would have implications for Emma should she want to have more children. My husband and I had already decided our two children were enough, and it wasnt traumatic at all,

ast year, Emma shared her story at a lunchtime fundraising event, during which 89,000 was raised in support of research being conducted into the BRCA1 gene by Breast Cancer Campaign researcher Dr Jo Morris (see panel, left). Since then, Emma has been determined to continue her fundraising efforts to support further breast cancer research. Weve got a six-and-a-half-year-old daughter, so its massively important to us that we do something.

be part of the cure

Thanks to your support, research funded directly by Breast Cancer Campaign has found eight breast cancer genes, helping save the lives of people like emma but theres still much more to do. To Be PART oF ThE CuRE, visit www.breastcancercampaign.org

www.breastcancercampaign.org