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Genetic test could predict breast cancer, study claims

Adrian O'Dowd

Tuesday, 1 May 2012

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A genetic blood test could help doctors to predict the risk women have of developing breast cancer in the future, claims a study published today in the journal Cancer Research.

The research found that that molecular or ‘epigenetic’ changes in a gene can be associated with breast cancer risk and can be detected many years before breast cancer develops.

Researchers at Imperial College London, who were funded by the Breast Cancer Campaign, said their findings could have important implications for predicting risk in other cancers including lymphoma and leukaemia.

The team of researchers studied samples from 1,380 women of various ages to test the effect of a molecular process called methylation on ATM genes within white blood cells. Of those women, 640 went on to develop breast cancer.

They found that of the 1,380 women tested, those with the highest amount of methylation were twice as likely to get breast cancer as women with the lowest amount on one area of a gene called ATM.

The blood tests were carried out on average three years before diagnosis and in some cases up to 11 years before and the authors believe it means a predictive test for breast cancer could be developed. 

They said the simple blood test, when used in combination with other risk assessment tools such as genetic testing and risk factor profiling, could identify those at higher risk, thus helping doctors to monitor and perhaps even prevent breast cancer from developing.

They cautioned that the findings needed rigorous testing in many more individuals and that many more genes that contribute to a person’s risk profile needed to be identified.

Breast Cancer Campaign scientific fellow, Dr James Flanagan, from Imperial College London, who led the study, said: “We know that genetic variation contributes to a person’s risk of disease. With this new study we can now also say that epigenetic variation, or differences in how genes are modified, also has a role.

“We hope that this research is just the beginning of our understanding about the epigenetic component of breast cancer risk and in the coming years we hope to find many more examples of genes that contribute to a person’s risk. The challenge will be how to incorporate all of this new information into the computer models that are currently used for individual risk prediction.”

Baroness Delyth Morgan, chief executive of Breast Cancer Campaign said: “Dr Flanagan’s research into epigenetics is so exciting because it suggests that there is every possibility the risk of developing breast cancer could be decided many decades in advance.

“By piecing together how this happens, we can look at ways of preventing the disease and detecting it earlier to give people the best possible chance of survival.”

DOI: 10.1158/0008-5472.CAN-11-3157

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