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Genetic profiling for breast cancer on the horizon

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by Cancer Research UK | News

25 June 2008

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Cancer Research UK scientists have shown that it may soon be possible to offer women a genetic test to assess their risk of breast cancer which could aid early diagnosis for those at high risk of the disease. Their findings are revealed in the New England Journal of Medicine* today (Wednesday).

Cancer Research UK funded scientists from the University of Cambridge, looked at the seven common ‘modest risk’ gene sites** which, in combination, put women at increased risk of developing breast cancer. They wanted to see what impact testing women for these genes might have on future public health policy – such as lowering or increasing the age at which they start to be screened for breast cancer and targeting lifestyle advice to women to reduce their risk of developing the disease.

Study author Dr Paul Pharoah, from the University of Cambridge, said: “We are a few years away from a new and powerful range of genetic tests for breast cancer. We believe genetic testing has the potential to enable doctors to identify a woman at an increased risk of breast cancer who would benefit from mammography at an early age or woman who may benefit from regular MRI scanning as well. This approach would also identify a 55 year old woman with a low chance of breast cancer who possibly wouldn’t need such regular checks.”

Currently doctors only test women who have a very strong family history of breast cancer for the high risk breast cancer genes such as BRCA1, BRCA2, PTEN, and TP53. But these gene faults are rare and few women in the general population will benefit from such testing. In contrast, genes that give woman a slightly increased risk are common and although each one has little impact alone, testing for their combination could prove useful.

Lead author Professor Sir Bruce Ponder, director of Cancer Research UK’s Cambridge Research Institute at the University of Cambridge, said: “It is very exciting to see workable and affordable approaches to genetic screening for breast cancer on the horizon. We expect such technology to develop very fast in the next decade so it’s important that we start thinking about how best to apply these advances.”

Dr Lesley Walker, director of cancer information at Cancer Research UK, said: “This study marks the potential for a tailor-made approach to screening for breast cancer which could radically change who we target and how we detect early signs of the disease. Great progress has been made to improve our understanding of the ways in which certain genes affect the risk of breast cancer – and as scientists find even more of these ‘risk genes’, our ability to use genetic tests to identify woman at risk will improve. But there is still some way to go before this kind of profiling becomes a reality.”


For media enquiries please contact the Cancer Research UK press office on 020 7061 8300 or, out-of-hours, the duty press officer on 07050 264 059.