Breast Cancer Awareness: Meet The Scientist Stamping Out The BRCA1 Gene

Breast Cancer Awareness: Meet The Scientist Stamping Out BRCA1
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Breast cancer is the most common form of the disease. It is estimated that one in eight women will be diagnosed with breast cancer during their lifetime and that as many as 570,000 people living with the cancer in the UK today.

With this in mind, HuffPost UK Lifestyle are proudly using October as a platform to drive and support breast cancer awareness across the UK.

Throughout the month we'll be bringing the latest news, inspiring real-life interviews and vital information such as symptom checkers to bring our readers everything they need to know about breast cancer.

To kick things off, we caught up with Dr Niamh O’Brien, a trailblazing scientist working to better understand the biology of the faulty BRCA1 gene.

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The faulty BRCA1 gene is a genetic mutation that can greatly increase a woman's risk of breast cancer - to between 55 and 85% - and was shot into the limelight last year after Angeline Jolie was diagnosed with a BRCA1 mutation and opted to have an elective double mastectomy to reduce her risk.

So, Niamh, what exactly does your job entail?

"What we’re trying to do is understand the biology. There is a particular gene called BRCA1. Normally BRCA1 role is to control growth within the cell, but when function of BRCA1 is lost, the cell can start to grow uncontrollably and become cancerous.

"And it seems that when BRCA1 function is lost it tends to be of a sub type of the disease called ‘triple-negative breast cancer’. The aim is to improve the chances of survival for women with this type of breast cancer, which can sometimes be more aggressive.

"Most people have a normal functioning BRCA1 gene, but a small number of women inherit a faulty version of BRCA1, which increases their risk of developing breast cancer to about 55%-85%. That’s why women who carry a faulty BRCA1 gene, such as Angelina Jolie, have risk-reducing surgery, by removing breasts and sometimes their ovaries.

"While BRCA1 is produced everywhere in the body, the faulty role only seems to be associated with breast and ovarian cancer - and sometimes with male prostate cancer, although this is rare."

Describe a typical working day

"Most of my work is lab based, so I spend most days at Queen's University Belfast, where I am a Breast Cancer Campaign Scientific Fellow.

"We experiment with 'cell lines', which are breast cancer cells that were taken from a patient many years ago. In the lab we can grow the cells artificially, in infinite supply, all we have to do is feed them a nutrient mix so that they can survive.

"We start by testing our hypothesis on these cells, we can manipulate the cells in a variety of ways and test different drug treatments.

"Only once we have positive results at this level do we start testing on human tissue. The tissue is taken from the university's 'bio bank' and will have been removed from a patient during breast cancer surgery.

"Whilst we can learn a lot from cell lines, they are quite artificial as they grow in isolation, and so are not a true reflection of the body. So eventually we have to start to better represent the body and test out different, more realistic cancer situations. Only after these are successful can we proceed to a clinical trial with patients."

Sounds like a lot of stages before getting to clinical trial, do you ever get disheartened by the negative results?

"The negative results are part and parcel of research. Nine times out of ten the test will fail, but the one time it does work you'll be so happy you forget the bad. Also, often a negative result is still telling you valuable information because it is ruling things out."

How did you first get into breast cancer research?

“I remember learning about the BRCA1 gene during my undergraduate degree. It amazed me that the loss of function of one gene could have such dramatic effects on the body but in such a specific way, i.e. how it increases risk of breast and ovarian cancer but rarely cancers in other organs).

"During my PhD and subsequent studies I have continued to work on BRCA1- related and triple negative breast cancer. I think this is really important as these cancers are not only typically aggressive and hard to treat but are often found in younger women. Therefore improved treatment is vital.”

What inspired you, or continues to inspire you, to be a scientist?

“I think when I meet people who are fighting cancer or at higher risk of developing the disease it makes you realise that your work could mean so much to someone. It really hits home now that I am a mum and the thought of not being here for my kids is not worth thinking about!"

Have you or anyone close to you personally been affected by breast cancer?

“My grandmother had a mastectomy a long time ago. Luckily, the cancer was very localised so removing the breast stopped the cancer. My aunt has also had a lumpectomy followed by radiation. Again she was lucky that this has worked and the cancer has not returned.”

As a woman working in the scientific research - and we know there aren't many of you! - have you ever faced any gender-specific problems?

“I know as a working mum it is hard to juggle home and work life. Science requires real dedication and quite often long hours or weekend work which is difficult with a family.

"You always want to give 100% to everything - to work, to family - it’s hard to find that balance. But have to make peace with it.

"That said, I have an incredibly supportive husband at home and a flexible working environment. My department was recently given the Athena SWAN award for gender equality, which is great. This means that they allow more flexible working, such as not holding any new meetings between 10 and 4."

How do you think we can get more girls interested in STEM subjects?

"By making it fun, enjoyable and accessible. My teachers (a lot of them female, actually) really inspired me to pursue a career in science.

"I remember my science teacher once dropped a lump of sodium into the swimming pool during an experiment, normally it is done in a beaker - it really brought science to life and I was hooked."

Dr Niamh O’Brien, Breast Cancer Campaign Scientific Fellow, based at Queen’s University Belfast

Celebrities Who Have Faced Breast Cancer
Kylie Minogue(01 of10)
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Kylie, 45, was diagnosed during her Showgirl world tour in 2005. After undergoing chemotherapy and radiotherapy, the singer took a few months off to recover.But determined Kylie made the ultimate comeback, and after being given the go-ahead by doctors, returned to the tour in 2006.She told the Radio Times: "A day does not go by without me thinking about [the breast cancer]. Just looking in a mirror is enough – the scars are moral and physical." (credit:Jordan Strauss/Invision/AP)
Sally Dyvenor(02 of10)
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Coronation Street star, Sally Dyvenor, discovered she had breast cancer while filming a parallel storyline with her soap character, Sally Webster. But although it might seem like an unfortunate case of life imitating art, the storyline could have saved her life. Dyvenor had found a lump on her breast while on holiday the previous year. But it wasn't until she began to film the scenes in which her character, Sally Webster, finds a lump that she asked an on-set nurse to check it out."If I had not been researching this storyline, I may not have discovered the lump in my breast and had it looked at so quickly," she said.In May 2014, Dyvenor, whose cancer spread to six of the lymph nodes under her arm, launched The Pledge Booklet. This draws on the experiences of more than 150 patients, to help provide guidance to those undergoing treatment for secondary cancer. (credit:Eamonn and James Clarke/Eamonn and James Clarke)
Jennifer Saunders (03 of10)
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Like many women, Jennifer Saunders thought that because she had no family history of breast cancer, she wasn't at risk of the disease. So when the comedienne went for a mammogram in 2009, she assumed the results would be clear. She told the Telegraph: "I had no family history of breast cancer and I had breastfed, which I sort of thought exempted you."But sadly the scan did detect a small cancerous lump. After undergoing a lumpectomy, chemotherapy and radiotherapy, Jennifer went public about her illness in the summer of 2010. The final part of Jennifer's treatment involved taking the drug Tamoxifen, which plunged her into the menopause and subsequently a bout of depression. But four years on, the BAFTA-winning writer is in good health: "I'm pleased to say that life is good again," she told the Telegraph. (credit:Tim P. Whitby via Getty Images)
Sharon Osbourne(04 of10)
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Having fought breast cancer off once, Sharon Osbourne discovered she carried a faulty gene that put her at high risk of contracting the disease again. Like Angelina Jolie, she opted to have a preventative double mastectomy.She said: "As soon as I found out I had the breast cancer gene, I thought, 'the odds are not in my favour'. I’ve had cancer before and I didn’t want to live under that cloud. I decided to just take everything off, and had a double mastectomy." (credit:Katy Winn/Invision/AP)
Cynthia Nixon(05 of10)
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Sex & The City star Cynthia Nixon was given the news that a small tumour had been found after a mammogram in 2006. In an interview on US show Good Morning America, she said: "I realised it had been found early so they could get right on with it."Her treatment involved a lumpectomy, followed by six weeks of radiation treatment. But Nixon chose not to go public about her battle with the disease until 2008."I didn't really want to make it public while I was going through it. I didn't want paparazzi at the hospital, things like that," she said. The actress is now an official ambassador for Susan G. Komen for the Cure, the world's largest breast cancer organisation. (credit:Angela Weiss via Getty Images)
Olivia Newton-John(06 of10)
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Grease star Olivia Newton-John was diagnosed with breast cancer in 1992 – the same week her father died of cancer. She underwent a partial mastectomy and breast reconstruction and has been cancer-free for more than two decades. She is patron of the Olivia Newton-John Cancer & Wellness Centre at the Austin Hospital, Heidelberg, Melbourne, Autstralia.The singer believes that a positive attitude helped to get her through her battle with the disease: “I learned very quickly how important it was to think positively. When the second friend I called with the news burst into tears, I thought ‘I don’t need this’. I had a sister and friends make the calls. That way I could focus on positive thoughts.” (credit:Mindy Small via Getty Images)
Anastacia(07 of10)
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Singer Anastacia has fought off breast cancer twice and in 2013 had a double mastectomy. She said in an inspiring statement during Breast Cancer Awareness Month 2013:"l was diagnosed with breast cancer for the second time earlier this year and am currently in the final stages of recovery after undergoing a double mastectomy."It has been an intense journey but l am feeling great and ready to start the next chapter."Breast Cancer Awareness Month gives all who are facing this disease a chance to gain strength and support from each other."Early detection has saved my life twice. I will continue to battle and lend my voice in anyway I can." (credit:Suzan/Suzan)
Sam Taylor-Johnson (née Taylor-Wood)(08 of10)
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Sam Taylor-Johnson has survived cancer twice. The award-winning filmmaker was diagnosed with colon cancer in 1997, weeks after giving birth to her first daughter. In 2000, she was diagnosed with breast cancer and underwent a mastectomy and six months of chemotherapy.In an interview with The Guardian, the artist was asked if she emerged from her illness 'harder'. She responded: "I don't necessarily think harder, but I do think you're more free about where you want to be in life. Time is precious." (credit:ASSOCIATED PRESS)
Sheryl Crow(09 of10)
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The 'If It Makes You Happy' singer had a lumpectomy after being diagnosed with breast cancer in 2006. Sadly, in 2011, doctors discovered a brain tumour, which fortunately was benign. It has shown little growth and is monitored every six months with an MRI scan."Without question, finding out I had breast cancer seven and a half years ago was a game changer. It forced me really to look at who I was," she told The Mirror.Having just split from her partner Lance Armstrong at the time of the diagnosis, the singer was forced to ask herself some searching questions about what was lacking from her life.As a result, she left her New York home and bought a farm in Nashville, Tennessee, where she now lives with her adopted sons, Wyatt, 7, and Levi, 4. (credit:Ian West/PA Archive)
Dame Maggie Smith(10 of10)
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Dame Maggie Smith, one of the country's best-loved actresses, was diagnosed with breast cancer in 2008. The courageous star was filming Harry Potter And The Half-Blood Prince, while undergoing intensive chemotherapy treatment.She said the experience of having cancer had “very much” changed her: “I think it’s the age I was when it happened. It knocks you sideways. It takes you longer to recover, you are not so resilient. I am fearful of the amount of energy one needs to be in a film or a play.”But despite her ordeal, she held onto her sense of humour throughout. She said of filming Harry Potter...: “I was hairless. I had no problem getting the wig on. I was like a boiled egg." (credit:David M. Benett via Getty Images)