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Today sees some important new results published in Nature from a study that has been carried out by Cancer Research UK.
Breakthrough are proud to have been involved in the study in a small way, as the Breakthrough Breast Cancer Research Unit at King’s College, London helped contribute cancer samples, data and analysis to the researchers. One of our scientists, Professor Sarah Pinder, was an author on the paper.
Researchers have made a discovery which could change the way breast cancer is diagnosed and treated, by identifying new genes and by classifying breast cancer into at least 10 sub-types. This research looked at around 2,000 breast cancers diagnosed over the past 10 years, examining their genetic profiles.
Both these findings could mean that the way treatments are tailored for women with breast cancer could change dramatically and, in the future, could help doctors to know which patients will benefit from certain treatments.
Dr Julia Wilson, Head of Research at Breakthrough Breast Cancer, says: “This is incredibly exciting research which has the potential to change the face of breast cancer; from how we diagnose and treat it, to how we follow it up afterwards. In essence, the entire patient journey could change.
"This study is another important building block in our goal for women to receive personalised, tailor-made treatments specific to their particular type of breast cancer, rather than just a 'one size fits all' treatment approach.
"We are proud to have been a part of this landmark study and we will continue to work with scientists from around the world to build on these findings and help to revolutionise treatment for women with breast cancer in the future.”
Cancer Research UK has put together some helpful questions and answers around this new research:
What did the scientists do?
They examined around 2,000 tumours but, instead of studying them under a microscope, they analysed their genetic profiles. The individual story of every tumour is written in its genes so although this approach is extremely labour-intensive and requires highly sophisticated and expensive equipment, it provides scientists with exquisitely detailed information.
What were the researchers looking for?
They were searching for the genetic faults (mutations) that drive breast tumour development. Tumours are littered with faults, but only a select few drive its growth. So spotting “driver mutations” against a much larger backdrop of “passengers” (which do not affect tumour growth or survival) can be extremely difficult.
What did they find?
The researchers identified several potential drivers. They also noticed that tumours clustered together into one of 10 groups, with each group having a distinct set of faults.
Why is this so exciting?
The research identified new cancer genes which could form the basis of next-generation treatments. This is particularly encouraging for research into tumour types such as the “triple-negative” breast tumours that have traditionally been very difficult to treat. These tumours do not have the molecules that drugs such as tamoxifen and Herceptin target so the choice of drugs that doctors can offer these patients is very limited. This work might lead to more treatment options for these patients.
Many of these genes could offer much-needed insight into breast tumour biology; allowing doctors to predict whether a tumour will respond to a particular treatment, whether it is likely to spread to other parts of the body, or whether it is likely to return after treatment. This information could be used to help doctors pick the best treatment plan for individual patients.
Importantly, the researchers found that tumours within each sub group had similar outcomes, suggesting that this work could form the basis of a classification system for breast tumours in the future. So, doctors will be better placed to offer treatments or clinical trials to patients most likely to benefit from them.
What is the next step?
Scientists will try to find out how specific faults promote tumour growth. They will look for those faults that could be targeted with new drugs in the future.
How will this work affect today’s breast cancer patients?
This research is unlikely to benefit women who currently have breast cancer. The equipment and expertise required to produce and analyse this amount of information is beyond the scope of today’s clinical laboratories, and we still don’t know which treatment plan is best for patients in each of these sub groups. So the real power of this research is in its potential; it offers scientists and doctors a springboard from which new and exciting avenues of research and drug discovery can be explored.
How many types of breast cancer are there?
This paper found that breast cancer can be grouped into 10 different types, however, these are broad groups based on genetics and survival times, not on markers that can be seen in cells, which is a method that is currently used in the clinic. Instead, this research has used patient samples and their medical information which has been put into 10 broad groups. These are not definitive however, as everyone’s DNA contains almost 30,000 genes, and so it is very likely the groups can be divided further. Indeed the World Health Organisation already recognise 17 different types of breast cancer and some scientists believe there are actually upwards of 40 different types.
Why this study was so important is that the researchers found that tumours within each sub group had similar outcomes, suggesting that this work could form the basis of a classification system for breast tumours in the future. Therefore, doctors will be better placed to offer treatments or clinical trials to patients most likely to benefit from them. The research also identified new cancer genes which could help to form the basis of next-generation treatments.
At the moment, breast cancer diagnosis is made on the presence or absence of markers on cells. The markers looked for are hormone receptors (ER and PR) and the HER protein, but in future we’ll be looking at other markers, such as the ones found in this study, to give an accurate diagnosis and so it looks like more different types will be diagnosed.