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Study reveals the genetic variations that raise the risk of breast, prostate or ovarian cancer

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by Cancer Research UK | News

27 March 2013

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Over 80 regions of the genome that can increase an individual’s risk of breast, prostate and ovarian cancers have been found in the largest ever study of its kind.

The research, led by scientists at the University of Cambridge and The Institute of Cancer Research, London, funded by Cancer Research UK and the Wellcome Trust, could lead to new treatments, targeted screening and a greater understanding of how these diseases develop.

The scientists were looking for genetic variations – called single nucleotide polymorphisms (SNPs) – linked to an increased risk of developing cancer.

By studying the DNA make-up of over 100,000 people with cancer and 100,000 people from the general population, they found alterations that were more common in people with prostate, breast or ovarian cancers.

Each alteration raises the risk of cancer by a small amount, but the one per cent of people who have lots of these alterations could see their risk of developing prostate cancer increase to nearly 50 per cent and breast cancer to around 30 per cent.

Study author Professor Doug Easton, a Cancer Research UK scientist at the University of Cambridge, said: “We’re on the verge of being able to use our knowledge of these genetic variations to develop tests that could complement breast cancer screening and take us a step closer to having an effective prostate cancer screening programme.

“By looking for people who carry most of these variations we will be able to identify those who are at the greatest risk of getting these cancers and then targeting screening tests to these individuals.”

Many of the SNPs found in the studies were near to areas of the genome that control how certain genes behave. Alterations to these control areas can lead to the ‘brakes’ that stop cells growing out of control being lifted; help cancers spread throughout the body; or help cells grow rapidly out of control. Understanding how these genes are involved in cancer could provide new understanding of how cancers develop and how to treat them.

In prostate cancer, 23 of these genetic variations were found, taking the total to 78. Importantly 16 are associated with the more aggressive and life-threatening forms of the disease.

Professor Ros Eeles, professor of oncogenetics at The Institute of Cancer Research (ICR), said: “These results are the single biggest leap forward in finding the genetic causes of prostate cancer yet made. They allow us, for the first time, to identify men who have a very high risk of developing prostate cancer during their lifetime through inheritance of multiple risk genetic variants. If we can show from further studies that such men benefit from regular screening, we could have a big impact on the number of people dying from the disease, which is still far too high.”

For breast cancer the researchers found 49 SNPs, more than doubling the number previously identified. Some of these were found in regions that have been linked to other cancers, suggesting they are disrupting the same underlying mechanisms that can cause the disease.

And, in ovarian cancer, 11 new regions were found.

As well as looking for the variations that raise the risk of these cancers, the researchers also looked for the SNPs that may influence how different breast cancers behave and regions that influence the cancer risk of people with faults in the BRCA genes.

Carriers of BRCA gene faults are known to be at a greater risk of developing breast and ovarian cancers, but it’s not clear which women will go onto develop cancer. The researchers found that the five per cent of women who have a BRCA1 fault and carry most of the genetic variants linked to BRCA1 have over an 80 per cent chance of developing breast cancer by the age of 80. Women with few of these variants and a BRCA1 fault have a 50 per cent risk of developing the disease.

In a series of accompanying papers the researchers looked for the changes that affect how different types of breast cancer behave. They found a series of SNPs that are only associated with a more aggressive form of breast cancer – called oestrogen receptor negative – suggesting it develops in a unique way, which could open the door to new treatments.

Dr Harpal Kumar, Cancer Research UK’s chief executive, said: “This groundbreaking international work highlights how complex cancer is. Hundreds, if not thousands of genes are likely to play a role in how cancers start. But by understanding why some people seem to be at a greater risk of developing cancer we can look towards an era where we can identify them and take steps to reduce their chances of getting cancer or pick up the disease in its earliest stages.”


For media enquiries contact the Cancer Research UK press office on 020 3469 8300 or, out of hours, on 07050 264 059.