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Gene breakthrough will aid understanding of other cancers

Posted on 13 June 2002

Researchers at the University of York have participated in a major scientific project which has led to a breakthrough in identifying a gene involved in a potentially lethal form of skin cancer.

Professor Norman Maitland, Director of the Cancer Research Unit at the University of York, is one of a group of researchers whose work has led to the discovery of a major genetic change that leads to malignant melanoma, a skin cancer that kills more than 1,600 people a year in the UK. Researchers say that the mutation of a gene called BRAF, which makes skin cells grow out of control, is so clear-cut that drugs are already being designed to block the action of the defective gene.

The discovery is the first fruit of the Cancer Genome Project, the world's largest cancer genome study, at the Wellcome Trust Sanger Institute. The Institute is one of the world's leading centres for genome research, renowned worldwide for its pivotal role in the international Human Genome Project.

Malignant melanoma, which is mainly caused by undue exposure to sunlight, accounts for just eleven percent of skin cancers, but almost all of the deaths. The incidence of malignant melanoma has doubled in the past decade.

The Cancer Genome Project is a Wellcome Trust-funded programme to identify the genes that are mutated and cause cells to behave as cancers. To do this they intend to use the human genome sequence (of which a third was generated at the Wellcome Trust Sanger Institute) to examine systematically all 30,000 genes in about 50 human cancers. To assess the importance of the genes that are discovered the Cancer Genome Project has collected the world's largest collection of cancer cell lines (approximately 1500).

Professor Maitland said, "We are delighted by the success of the Cancer Genome Project and this potentially significant result. Our role, in what is an international collaboration, was to provide the means of testing prostate tumours. Regrettably for the 21,000 men diagnosed in the UK each year with prostate cancer, there were no changes found in the BRAF gene. We are however confident that the Cancer Genome Project will unearth new genetic defects which should allow us to both target more therapies and to predict the course of prostate cancer more easily. International groups of researchers, such as those at the Wellcome Trust Sanger Institute, and the Institute of Cancer Research, provide significant added value for the major funding of Prostate Cancer Research in the Cancer Research Unit at York, by Yorkshire Cancer Research."

Notes to editors:

  • The YCR Cancer Research Unit at the University of York was set up in 1980 by the then Yorkshire Cancer Research Campaign, recently renamed Yorkshire Cancer Research (YCR), which is an independent charity dedicated to funding cancer research within Yorkshire. Professor Norman Maitland is Chairman of the British Prostate Group and Co-ordinator of an international EU-funded network to develop gene therapy for prostate cancer. He is also an expert on cervical and oral cancers.
  • The Wellcome Trust is an independent research funding charity, established under the will of Sir Henry Wellcome in 1936. It is funded from a private endowment which is managed with long-term stability and growth in mind. The Trust's mission is to foster and promote research with the aim of improving human and animal health. Website:
  • The new study shows that the B-RAF mutation is present in 70% of melanomas
  • Malignant melanoma incidence is increasing more rapidly in men than women. Incidence in men increased by 12% in the six years to 1998, and by 2.1% in women.
  • Further details on the research can be in an online version of Nature which can be accessed via The electronic version of the Nature paper can be referenced using the following unique identifier: 10.1038

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