Breast cancer: A test to detect the risk of disease – 10 years ahead

updated the 24 June 2015 à 10:59

A team of British scientists has identified a change in the cells that would indicate many years in advance the women who have a high risk of being affected with the disease, even in the absence of hereditary factors.

breast cancer

Regarding the prevention of breast cancer, we hear a lot about the detection of mutations in the BRCA1 gene. When it is proved, women have 85% risk of developing the disease. In these cases, mastectomy may be recommended for prevention. But these “anomalies” are in the minority and concern only 10% of breast cancers. In 90% of the cases, there are no signs or markers to predict the risk. Today, we know that it is not just the genetics – environmental factors also have a great influence on the way our genes function. This is called epigenetics. Simply put, what we eat, whether we exercise or pollution can for example “turn on” or “turn off” certain genes protecting against certain diseases or, on the contrary, it can expose us to others.

In a study published on June 27 in the Genome Medicine journal, British researchers analysed blood samples taken from a few hundred women over a period of several years. Their goal: to find those in which DNA methylation was observed – as it is one of the best known epigenetic markers – and see if there was a link with the future development of breast cancer. According to Professor Martin Widschwendter, who led the study: “When this DNA methylation was found in women who have a mutation in the BRCA1 gene, the risk of breast cancer was highest and it had the lowest survival rate . We were surprised to discover that the same modification of DNA in women with no risk of hereditary breast cancer was also linked to developing the disease a few years later.”

The explanation: This methylation could “turn off” some genes, which as a result would affect the proper functioning of our immune system and its role in the prevention of breast cancer. Further research is needed to determine whether this epigenetic marker is an indicator of risk or if it is more of a reaction related to the process of development of the disease.

For Professor Widschwendter: “These data are encouraging because they show the potential of a blood-based test to detect epigenetic risk of breast cancer among women with no genetic predisposition”.

The question is what do we do with the results if the tests are positive, especially as so far scientists have little data on how to modify genes’ expression. Is it possible to reverse the process through changes in behavior? Or these new detection methods will just be another thing to worry and be wary about?

Read more on our breast cancer report:

How to self-examine your breasts

The most reliable 3D mammography

Maureen DIAMENT


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Marie France Asia, women's magazine