LIFESTYLE

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

02/10/2014 09:24 BST | Updated 02/10/2014 09:59 BST

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.

niamh obrien

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."

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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."

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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

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