Blood test to detect breast cancer risk on the horizonDetects changes in gene before cancer develops
A blood test could soon be able to predict breast cancer many years before it develops, according to new research.
Scientists at Imperial College London found that molecular changes to a gene called ATM can double a woman's risk of going on to develop breast cancer.
The hope is that the study findings can be used to develop a blood test to identify those women most at risk of developing the disease.
In the study, the scientists tested blood samples from 1,380 women without breast cancer to find out whether the alteration of single genes by a process known as methylation can predict whether women have an increased breast cancer risk.
Methylation, important in gene regulation, has been shown to be vulnerable to exposure to environmental factors such as hormones, alcohol, smoking and pollution, leading to "epigenetic" alterations to the DNA.
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 the ATM gene.
Scientists said the results were particularly clear in blood samples taken from women under the age of 60.
The ATM gene, which is found in white blood cells, has also been linked to a number of other cancers, including lymphoma and leukaemia.
Some 640 women went on to develop breast cancer in the study, but changes in DNA methylation were detected an average of three years, and in some cases up to eleven years, before the disease was diagnosed.
Dr James Flanagan, who led the research, 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.
"So far we have found alterations in one small region of a gene that appear to associate with risk of disease and so the next step with this epigenetic research is a genome wide approach to try and find all the associated genes."
Baroness Delyth Morgan, chief executive of Breast Cancer Campaign, which funded the research, 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."
This article was published on Tue 1 May 2012
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