FORTY mutated genes to blame for breast cancer, experts discover


Forty different mutated genes are responsible for causing the 10 different forms of breast cancer, experts have discovered. They have unearthed crucial new genetic information about how the disease develops and the genetic changes which can be linked to survival. After anaylsing tumour samples, experts from the University of Cambridge, discovered breast cancer can be classified as 10 different diseases. They then worked to gain a greater understanding of the genetic faults of these 10 disease subtypes.

Yet, only a fraction of these genes were previously known to be involved in the development of the disease.

Professor Carlos Caldas, lead author of the Cancer Research UK research, said the METABRIC study ‘mapped the genetic blueprints for breast cancer’. He said: ‘These new results give us even more detail about which genetic faults could be linked to how different types of breast cancer develop and progress.

‘The information could, in the future, help design clinical trials for breast cancer patients, or give researchers more flags to look out for in liquid biopsies, a type of test used to detect genetic material in the blood that is released by dying cancer cells.’

As well as identifying the 40 mutated genes responsible for breast cancer, the researchers also found that one of the more common mutated genes, called PIK3CA, is linked to lower chances of survival for three of the 10 breast cancer subtypes. Crucially, this may help to explain why drugs targeting PIK3CA work for some women but not others, they noted. And the researchers believe their findings could pave the way for research to find new drugs to target the genetic faults and stop the disease progressing.

The research could also provide vital information to help design breast cancer trials and improved tests for the disease. The findings add a more detailed layer of information to the METABRIC study, a major piece of research involving 2,000 patients in 2012, which revealed breast cancer can be classified as 10 diseases or subtypes.

Professor Peter Johnson, Cancer Research’s chief clinician, said: ‘Our research continues to highlight just how complicated cancers are.

‘But we are managing to solve these puzzles faster than ever. 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. Research like this will help us invent new diagnostic tests to guide treatment for breast cancer patients in the future.’

The results will be made available to the public so that other researchers can benefit from the work. The study is published in the journal Nature Communications

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