Pinpointed breast cancer genes explain why some cases are so hard to beat

The researchers were able to pick out 40 genes closely linked to breast cancer progression, helping researchers better understand the disease

Our understanding of breast cancer is almost constantly improving, and we're always researching new ways of detecting the disease. Now, a team of researchers led by scientists from the University of Cambridge has picked out a number of mutated genes linked to the cancer, only a small number of which were previously known. The improved understanding could lead to more efficient treatments down the line.

The team worked with tumor samples from the METABRIC Study, which was an effort by the British Columbia Cancer Agency, working together with Cancer Research UK, and involving more than 2,000 patients.

The study classified breast cancer as 10 different diseases, significantly forwarding our grasp of the condition. The goal of the new research was to obtain a more complete understanding of the genetic faults involved in the 10 identified subgroups.

Upon analysis, the team found a total of 40 mutated genes that are instrumental in breast cancer progression, only a small number of which had previously been known to be involved in the disease.

More specifically, they were able to determine that a commonly mutated gene, known as PIK3CA, is closely linked to a lower chance of surviving the condition in three of the 10 subtypes. This explains why treatments that target the gene are effective at combating the cancer in some patients, but not others – something that has puzzled researchers up to this point.

With those 40 genes pinpointed, researchers can now use the information to find and develop drugs that are able to directly combat the faults, hopefully halting the disease in its tracks. It will help scientists to better design clinical trials, as well as giving doctors more to look out for during biopsies.

"This study gives us more vital information about how breast cancer develops and why some types are more difficult to treat than others, and this information is a great resource for researchers all over the world," said Cancer Research UK's chief clinician Professor Peter Johnson. "Research like this will help us invent new diagnostic tests to guide treatment for breast cancer patients in the future."

The researchers plan to make the full results of the research public, allowing other teams to benefit from the work. For now, details of the study are published online in the journal Nature Communications.

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