Breast Cancer - Cancer Research UK

“I remember the appointment so vividly” – carrying the BRCA1 gene

Posted on May 15, 2013 by Rebecca Hull

Rebecca Hull, 41, has had a preventative double mastectomy after discovering that she carries a faulty copy of the BRCA1 gene. She works for Cancer Research UK.

Seeing Angelina Jolie talking in the media so prominently this week does have a huge impact on people like me.

I think her announcement will make it easier for me to talk about my experiences, and I feel that I don’t have to justify my decision to people as much – it makes it more acceptable.

I grew up knowing my mum’s mum died in her late 40s of ovarian cancer and I was aware that mum had cousins who died from breast cancer in their 30s.

Then, in the early 1980s, when she was 38, mum had had breast cancer – and a mastectomy.

In 2006, she felt unwell again and, after initially being repeatedly misdiagnosed with IBS and then a chest infection, she was found to have ovarian cancer.

After some confusion, she was finally told she had advanced (stage 4) cancer, and she was given intensive treatment including carboplatin chemotherapy, surgery – and then more chemotherapy. She responded well initially, but the cancer returned, with shadows on the liver and lung.

She had more chemotherapy but the cancer returned again in 2008 – mum knew there was no beating it this time. She was 63 then and was put onto palliative treatment.

Having the gene test

At about the same time, I had been to the doctor for antenatal checks and, in passing, mentioned my family history. My GP took notice and referred me to the clinical genetics department at Guys Hospital in London. In early 2009 we discovered mum had a BRCA 1 gene mutation, so I had a blood test at Guy’s to find out whether I had a genetic risk of the disease too.

I was called back in April to be told I had inherited the BRCA1 mutation and I had a very high chance of developing cancer. I remember that appointment so vividly, it was a pivotal moment and my life changed forever.

The hospital team at Guy’s were amazing – and I had a multidisciplinary team of specialists who were able to give me advice and support.

Over that summer, I had to tell my mum’s brother, and they had to think about taking the tests too. As it turned out, my uncle tested negative, so I’m the only one currently affected in the family, although I have two daughters and we currently don’t know their status. It was a huge relief that none of my cousins inherited the gene, but it has become a bit of an elephant in the room now that I am the only one.

While all this was happening, I was working and caring for mum, who was deteriorating. She died in October. It was a terrible time.

Rebecca with her children

Having two children, and having seen family members die from breast cancer at the age I was, I decided that I had to have the surgery and, on Valentine’s Day 2010, I had a bilateral mastectomy with reconstruction at the same time.

It was an 11-hour operation and I had to go into intensive care afterwards. I ended up spending 10 days in hospital.

I was off work for three months and it has had a huge impact on my life. And although the reconstruction didn’t quite go to plan, and I am still having revision surgery to correct this, I have no regrets.

I feel that I have two big challenges ahead of me still:

First, I have to tackle my ovarian cancer risk. This will involve more surgery, as there’s currently no screening programme or understanding as to whether screening would be effective. In some ways, I am more reticent about this surgery as it comes with significant side-effects as a result of the early menopause that removal of the ovaries brings about.

But the second and probably biggest challenge involves my two daughters. They are both under 10 and there’s a 50/50 chance they will have inherited the BRCA gene. I must plan for how this could impact their lives, so they grow up aware but not scared.

It is going to be difficult but I’m hoping research will improve the situation as they grow up.

Research in the last 30 years has given us so much knowledge, and I hope that this progress will continue so that their future options will be better.

And I’m especially proud to work for an organisation like Cancer Research UK that has such a great track record of research into breast cancer genetics and prevention.

After all, Cancer Research UK scientists helped pinpoint the BRCA1 gene, and this has led to some huge advances in understanding breast cancers. I know that this work was too late for my mum, but it wasn’t too late for me. And I hope they will continue to make progress that will have a huge impact for my daughters too.

It can be hard at times knowing that this defect has caused so much loss in my life, and could create more havoc. But I do feel immensely grateful that I‘ve had options to manage my risk of developing cancer, and I am undoubtedly in a better position than my mum and the generations before her.

Rebecca

Angelina Jolie, inherited breast cancer and the BRCA1 gene

Posted on May 14, 2013 by Henry Scowcroft

Actress Angelina Jolie has had surgery to prevent breast cancer

The news today is full of reaction to US actress Angelina Jolie’s decision to have surgery to reduce her chances of breast cancer.

She made this difficult decision because, having lost her mother to ovarian cancer, she discovered she carries a faulty copy of the BRCA1 gene – which put her at very high risk of getting both forms of the disease.

If you haven’t read her brave and thoughtful piece in the New York Times, it’s worth doing so.

But in the light of the considerable interest, and the fact that many people will undoubtedly have questions, we wanted to pull together a few quick thoughts and facts on the topic of inherited breast cancer generally, and the BRCA1 gene specifically.

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New tricks for old drugs – blocking oestrogen to prevent breast cancer

Posted on April 30, 2013 by Hazel Nunn

Can drugs like tamoxifen be used to prevent breast cancer?

Tamoxifen is one of the mainstays of breast cancer treatment. Since the early 1980s, it’s been given to women who’ve had breast cancer to try to stop the disease returning.

As a result, it’s saved the lives of millions around the world, and some regard it as the most important cancer drug ever developed.

But today this old drug returns to the spotlight, with a new study showing that tamoxifen and other oestrogen- blocking medicines can reduce the chances of healthy women developing breast cancer.

We’ve blogged before about the discovery of tamoxifen, and Cancer Research UK’s role in its development.

But until now it’s not been clear whether tamoxifen and related drugs might have benefits for healthy women. Today’s finding, by an international team led by Cancer Research UK-funded researchers, provides the best evidence yet that these drugs could be used to help prevent breast cancer in women at average and above-average risk of the disease.

This is hugely significant. If benefits are shown to outweigh the risks, offering women at high risk of breast cancer a drug to lower their risk, could potentially prevent many thousands of breast cancer cases in the UK alone.

Let’s look at their findings, and at what happens next.

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Watching cancers evolve using ‘liquid biopsies’

Posted on April 8, 2013 by Henry Scowcroft

Cancer’s evolving DNA can be detected using a blood test

Sometimes it feels like cancer research is progressing at a dizzying speed.

Just last year, we reported how Cancer Research UK scientists had reconstructed the evolution of a patient’s kidney tumour during treatment – one of many studies over the past few years illustrating cancer’s fearsome genetic complexity and adaptability.

This phenomenon, known as ‘intratumour heterogeneity’, led many to predict a long, hard slog to fully understand it – let alone get a handle on its implications for treatment.

One key concern was that patients would need to undergo a series of small operations (biopsies) to take repeated tissue samples to track how their cancer develops – and that this could be painful, costly and risky – especially for cancers deep in the body. And even then, because of the genetic variation within each patient’s cancer, there would be no guarantee that the biopsy results would represent an accurate picture.

Others also pointed out that such heterogeneity was a blow to the optimism around new-generation ‘targeted’ therapies, designed to treat cancer cells driven by individual mutations.

But recent discoveries have renewed this optimism. It turns out that tumours release DNA into the bloodstream, and that this seems to contain signals about what’s going on inside it. Consequently, there’s been a growing hope that analysing these DNA fingerprints could provide a quick, simple ‘liquid biopsy’ to track tumours’ progress.

And last month, researchers at our Cambridge Institute published compelling evidence that circulating DNA could indeed be used to take a snapshot of the DNA errors (mutations) in a patient’s breast cancer.

Today they’ve gone one step further proving, in a beautifully detailed paper in the journal Nature, that blood samples can be used to monitor genetic changes in a patient’s disease over time.

This has the potential to be a game-changer, and rapidly accelerate research into what makes cancers tick, in real patients, in timeframes that can impact on clinical decision making.

Let’s look at what they found.

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Gene variations and cancer risk – more results, more answers and more questions

Posted on March 27, 2013 by Kat Arney

Scientists have found around eighty new gene variations linked to breast, prostate and ovarian cancers

A thousand scientists from one hundred international research groups working over four years. Thirteen papers spread across five journals. DNA analysis of two hundred thousand people. And eighty new genetic variations, or SNPs (pronounced “snips”) linked to three different types of cancer, doubling the current total known about so far.

These are impressive, big figures from an equally impressive, big piece of science, which Cancer Research UK helped to fund (here’s the press release). But what does it all mean?

To find out, we spoke to Professor Doug Easton from the University of Cambridge, one of the leaders of the project.

Cancer Research UK: What exactly are SNPs?

Prof Easton: SNP stands for “single nucleotide polymorphism”, and it’s a single ‘letter’ difference in the DNA between individuals. Your DNA is made up of around 3 billion of these ‘letters’ – there are four possible letters you can have: A, C, T and G – so a SNP is just a single place in your genome where you might have one particular letter, and someone else has a different one.

To explain a bit more about SNPs and what they do, have a look at this short animation:

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Blood test tracks breast cancer

Posted on March 13, 2013 by Kat Arney

A blood test could provide a simple way to monitor cancer

Cancer is a wily enemy. It mutates and spreads within the body and becomes resistant to treatment. Understanding and counteracting this tricksy behaviour is the greatest challenge for researchers and doctors, and is the key to bringing forward lasting cancer cures.

Thanks to advances in technology, we’re now starting to map out cancer’s underlying genetic landscape. In theory, if doctors knew exactly which gene faults were driving a patient’s cancer, they could give them the most appropriate targeted treatment.

And as well as selecting the therapy with the best chances of working, it’s also important to know whether the disease is responding to treatment or not as fast as possible, so doctors can decide on the best course of action – for example, whether to continue with a particular drug or switch to a different one.

But there’s a problem with this approach. Monitoring how well a patient’s cancer is responding is not a simple job. At a minimum, it requires regular scans or other tests. On top of this, analysing a tumour’s genes requires having a sample of it, usually taken as a biopsy with surgery, as well as access to tests that can provide meaningful results in a short timeframe. And if the cancer has spread to a multitude of locations in the body, it’s simply not possible to biopsy them all.

As an extra kicker, we now know that a single tumour can house cancer cells with a range of different gene faults – a characteristic that scientists refer to as “intra-tumoural heterogeneity”, but could also be described in rather more unpublishable words. And secondary cancers that have sprung up elsewhere in the body also have differences in their genetic makeup compared to the initial tumour.

The problems seem almost insurmountable – it’s a bit like trying to attack a shape-shifting army that we can’t properly see. But, as you might hope, research is coming to the rescue.

Building on work we talked about last year, scientists at our Cambridge Institute have made a significant step forward in developing a relatively simple genetic blood test that can monitor breast cancer as it progresses.

They’ve published their results in a paper in the New England Journal of Medicine, and although the title – “Analysis of circulating tumor DNA to monitor metastatic breast cancer” – may not set your heart racing, the contents are certainly inspiring for all of us hoping for progress in cancer research.
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Breast cancer in the UK: can we do even better?

Posted on March 1, 2013 by Hazel Nunn

UK breast cancer survival is worse than in comparable countries – why?

In the UK we’re making great progress against breast cancer – over 85 per cent of women diagnosed with the disease survive for at least five years. And around two thirds of all women diagnosed with breast cancer can expect to survive their disease for at least 20 years.

But today’s results from the International Cancer Benchmarking Partnership (ICBP) – a study of cancer survival rates in some of the worlds’ richest countries – serve as a reminder that we could be doing even better, and it gives some clues about how.

It’s the latest in a string of important papers from ICBP. The first showed that while UK survival is improving, it lags behind the best in the world. And for the four cancers studied in ICBP, it is only in breast cancer that are we closing the gap.

Two recent papers examined the reasons for the UK’s relatively poor ovarian and lung cancer survival. They suggested that the differences between countries – and the UK’s poorer statistics – were caused more by differences in access to treatment than by being diagnosed at a late stage.

The new research, which drew on data from more than 250,000 breast cancer patients, paints a similar picture. It shows that survival rates for women diagnosed in the UK are lower than those in Australia, Canada, Norway, Denmark or Sweden – with 87 per cent of women survived their disease for at least three years after diagnosis (known as ‘three-year survival’) compared with 94 per cent in Canada (the highest in the study).

Although the overall differences between the countries weren’t that large – women with breast cancer generally fare well across all the countries studied – a closer look at the numbers reveals some good and some bad news.

This is possible because, like the lung and ovarian cancer studies, the new analysis also looked at the proportion of breast cancers diagnosed at different stages of the disease, and tallied this against the chances of surviving at each of these stages. This yields important clues about the root causes of the UK’s poorer breast cancer survival. Let’s have a look at the details.

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