Another month, another vital discovery in the fight against cancer: a collaboration between the Washington University School of Medicine in St Louis, the Baylor College of Medicine Waco, Texas and Canada’s University of British Columbia has detected a link between certain DNA mutations and a high risk of relapse in oestrogen receptor positive breast cancer, as well as other mutations which are associated with better outcomes.

Their study, which was published this month, could really help the medical community when they attempt to predict which patients are most likely to have their cancer return and spread – which would be a huge help when it comes to mapping out a plan of treatment. Furthermore, it also opens the door to the development of more aggressive treatments for patients with the newly identified high-risk mutations.

The researchers analysed tumour samples from more than 2,500 patients with oestrogen receptor positive breast cancer – which is one of the most common forms of the disease, where the cancer cells have receptors which bind to the hormone oestrogen in the nucleus of the cell and drive tumour growth.

Why detecting ER positive cancer cells are vital

Women who suffer from ER positive breast cancer have a number of treatment options that can block the oestrogen receptor to stop tumour growth, which are more effective and less toxic than traditional chemotherapy and radiation, but certain tumours have the ability to develop a resistance to these treatments and can mutate without the presence of oestrogen. And it is these types of mutations which cause the majority of deaths due to breast cancer.

This new study not only confirmed previous studies which proved that relatively common mutations in patients with a gene called MAP3K1 responded well to treatment, while those with a gene known as TP53 were more likely to have a recurrence. But it also picked out three other genes – DDR1, PIK3R1 and NF1 – which are comparatively rare mutations that are also linked to cancer recurrence and spreading and recommended that they should be also be targeted in future cancer screenings.

“Although mutations in DDR1 and NF1 are considered rare, they are associated with early relapse, which makes them much more common in patients who unfortunately die from the disease and, thus, could be critical therapeutic targets,” said Matthew J. Ellis, MB, BChir, PhD, of the Baylor College of Medicine. “Their identification also gives us very important molecular clues into the nature of aggressive tumour behaviour.”

Earlier breast cancer detection = a better chance of beating cancer

The upshot of studies like this is to help the medical community sharpen its focus on what they should be looking for in screenings in order to detect the occurrence of cancer as early as possible, in order to give patients the best possible chance against cancer.

“We would like to help doctors identify patients who are likely to do well versus those who are likely to have a recurrence,” said first author Obi L. Griffith, PhD, an assistant professor of medicine and an assistant director of The McDonnell Genome Institute at Washington University School of Medicine.

“Those with mutations that are associated with a good prognosis may need less intensive therapy than they might otherwise receive. But if a patient’s tumour has mutations linked to high risk of relapse, it’s useful to know that early so they can be treated with more aggressive therapies or even potential investigational therapies that could be targeted to their specific mutations.”