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Researchers identify the gene responsible for metastasis of breast cancer to the bone

September 25th, 2015

A study led by researcher Dr Roger Gomis at the Institute for Research in Biomedicine (IRB Barcelona) has uncovered a gene that enables breast cancer cells to invade bones and create new tumours, or to metastasise.

It is an important discovery as clinicians currently have no way of detecting which breast cancer patients will metastasise to the bone, a process that occurs in 15-20 per cent of cases.

Metastatic breast cancer is an invasive breast cancer that has spread from the breast to other parts of the body, most commonly the bones, liver, lung and brain. Bone metastasis is the only type of metastasis that can be controlled, although not cured, by drugs. However, treatment is only given once the metastasis has been identified, when the cancer is often too advanced for it to be effective.

Researchers at IRB Barcelona analysed estrogen-receptor-positive breast tumours, which specifically tend to metastasise to the bone, and represent 80 per cent of all breast cancers. The results indicate that the gene MAF triggers a set of functions in the cell that allow metastasis to take place.

The researchers analysed more than 900 clinical samples of primary breast tumours. In tumours in which the MAF gene is altered, the risk of metastasis to the bone is 14 times higher than in those in which it is unaltered.

“This gene reliably predicts metastasis to the bone. Studying whether it is highly expressed in breast cancer patients to determine whether this also happens in a clinical setting is an important next step. It could improve the quality of life of these patients and the way clinicians manage their cancer,” explains Dr Gomis.

The discovery has been patented and the technology necessary to validate the gene marker has been developed. Clinical trials are already underway.

Preliminary studies indicate that the same drugs used to treat metastasis could also be used to prevent it, and identifying those patients at risk of developing bone metastasis is therefore very important. This discovery offers a way to distinguish those patients, which wasn’t possible before.