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New understanding of breast cancer genes and mutations




Wednesday 16 May 2012



Scientists have identified nine new genes that drive the development of breast cancer, taking the tally associated with this type of cancer to 40. The study, led by the Wellcome Trust Sanger Institute and involving researchers from The Institute of Cancer Research, published in the journal Nature today.

The team examined all the genes in the genomes of 100 cases of breast cancer. The mutated cancer-causing genes were different in different cancer samples, indicating that breast cancer is genetically very diverse. Understanding the consequences of this diversity will be important in progressing towards more rational treatment.

Changes to DNA lie behind all cases of cancer. Cancer develops as a result of mutations – called somatic mutations – that are acquired during a person’s lifetime. Driver mutations, which occur in cancer genes, are a small subset of somatic mutations that drive the development of cancer.

Co-author Professor Jorge Reis-Filho, from the Breakthrough Breast Cancer Research Centre at The Institute of Cancer Research, said: "This important study provides a detailed catalogue of the faulty genes across different types of breast cancer. We know that breast cancer is really complex, but now we have a much greater understanding of what drives its development. This allows us to start thinking about the most effective ways of finding and combining drugs that target critical points in a patient's breast cancer based on this information. Breast cancer scientists are making strides towards personalised medicine by matching the right treatment to the right patient and this research is a step towards that goal."

Dr Patrick Tarpey, first author from the Wellcome Trust Sanger Institute, said: “Breast cancer is the most common cancer in women. To identify new cancer genes that lead to the development of breast cancer, we searched for driver mutations in over 21,000 genes, and found evidence for nine new cancer genes involved in the development of this cancer.”


These genome analyses provide a direct survey of the landscape of driver mutations in breast cancer. The team found driver mutations were present in at least 40 different cancer genes. Most individual cancers had different combinations of mutated cancer genes, demonstrating the substantial genetic diversity in breast cancer.

Professor Mike Stratton, lead author and Director of the Wellcome Trust Sanger Institute, said: “In 28 cases we found only a single driver, but the maximum number of driver mutations in an individual cancer was six. We found that breast cancer can be caused by more than 70 different combinations of mutations. If we consider three breast cancers, each with four driver mutations: they might share none of those driver mutations – so each is a different genetic ‘animal’. They are different cancers driven by different genes. We need to classify them as carefully as we can. This study is a step towards that goal.”

Dr Andy Futreal, Head of Cancer Genomics at the Wellcome Trust Sanger Institute until recently and currently an Honorary Faculty Member at the Institute, said: “One of the most striking things about breast cancer is how it progresses differently in each patient and how each patient responds differently to therapy. Our results can help us to understand these differences.”

Our genomes are scarred by decades of continual assault that leave mutations scattered though our DNA. This is the most comprehensive study thus far of mutations in breast cancers, discovering nine new mutated genes that cause breast cancer, and revealing the full diversity of the driving events that convert normal breast cells into breast cancers.

Professor Stratton said: “The picture is certainly more complicated than we would have wanted, but as with many other things knowledge is our strongest weapon. These comprehensive insights reveal the faulty wiring of the cellular circuit board that causes cells to behave as cancers. Understanding our enemy at this level of detail will allow us to take more rational approaches to therapy, to understand why some cancers respond to drugs and others do not, and direct us to new vulnerabilities to be exploited in new treatments.”


 Media Contact: Wellcome Trust Sanger Institute Media Manager Don Powell on 01223 496 928 or [email protected]. ICR Science Communications Manager Jane Bunce on 0207 153 5106 or after hours 077217 47900.

Notes to editors:

“The landscape of cancer genes and mutational processes in breast cancer by Stephens and Tarpey et al will be published electronically on Nature's website on 16 May DOI: 10.1038/nature11017


The Wellcome Trust Sanger Institute is one of the world's leading genome centres. Through its ability to conduct research at scale, it is able to engage in bold and long-term exploratory projects that are designed to influence and empower medical science globally. Institute research findings, generated through its own research programmes and through its leading role in international consortia, are being used to develop new diagnostics and treatments for human disease.

The Wellcome Trust is a global charitable foundation dedicated to achieving extraordinary improvements in human and animal health. We support the brightest minds in biomedical research and the medical humanities. Our breadth of support includes public engagement, education and the application of research to improve health. We are independent of both political and commercial interests.

The Institute of Cancer Research (ICR) is one of the world’s most influential cancer research institutes.

Scientists and clinicians at the ICR are working every day to make a real impact on cancer patients’ lives. Through its unique partnership with The Royal Marsden Hospital and ‘bench-to-bedside’ approach, the ICR is able to create and deliver results in a way that other institutions cannot. Together the two organisations are rated in the top four cancer centres globally.

The ICR has an outstanding record of achievement dating back more than 100 years. It provided the first convincing evidence that DNA damage is the basic cause of cancer, laying the foundation for the now universally accepted idea that cancer is a genetic disease. Today it leads the world at isolating cancer-related genes and discovering new targeted drugs for personalised cancer treatment.

As a college of the University of London, the ICR provides postgraduate higher education of international distinction. It has charitable status and relies on support from partner organisations, charities and the general public.

The ICR’s mission is to make the discoveries that defeat cancer. For more information visit

Breakthrough Breast Cancer

Breakthrough Breast Cancer funds ground-breaking research, campaigns for better services and treatments and raises awareness of breast cancer.  Through this work the charity believes passionately that breast cancer can be beaten and the fear of the disease removed for good. Find more information at

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