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This project is using the latest technology to sequence the DNA samples from hundreds of people with sarcoma. By doing this the group hope to identify the genes which make a person susceptible to developing sarcoma. Any genes found can then be used as the basis of future genetic testing to identify patients who are at high risk.

Studies of genetic susceptibility using exome sequencing in patients with sarcoma and an additional primary tumour

This project aims to identify genes which make people more susceptible to developing sarcoma by looking at a set of patients who have been diagnosed with sarcoma and another primary cancer.  This is important because any genes found could be used in genetic testing for sarcoma patients and their families in the future.

Genetic testing can be useful in the treatment of sarcoma. Identification of particular genes may offer opportunities for individualised therapy by giving information about the behaviour of the tumour and how to treat it.  It could also give knowledge about the risk of future additional cancers, for which prevention and/or screening could be offered.  Testing could also be offered to a patient’s family to provide reassurance or the possibility for risk management.

There are currently 10 known gene mutations, which give a higher risk of developing sarcomas.  At the moment, relatively few sarcoma patients are offered genetic testing and typically this is only for one or two of the genes.  Via application of new sequencing technologies in clinical diagnostics, it will soon be possible to offer genetic testing for multiple genes to more sarcoma patients.

The team will collect DNA samples from two hundred individuals across the UK who have had sarcoma and an additional primary cancer.  They will use the latest technology to sequence 20,000 genes (the exome) in these samples.  The primary purpose of this research project is to identify new sarcoma susceptibility genes, but a secondary outcome will be to gain an overall picture of the frequency and contribution of all known cancer predisposition genes in patients who present with sarcoma and additional cancers.  They will also collect samples from at least 400 additional sarcoma patients at the Royal Marsden Hospital.  This will be a sample series in which to further investigate their findings, which will also form the basis of additional future studies into the genetic basis of sarcomas.


Presentations & Workshops

  • Turnball, C. GeMCaS Sarcoma collection: research update. Presentation given at the Cancer Genetics Group. December, 2013. London, UK.
  • Turnball, C. GeMCaS Sarcoma collection: research update. Presentation given at the Cancer Genetics Group. December, 2015. London, UK.
  • Turnball, C. Inherited cancer susceptibility and its relevance in sarcoma. Presentation given at Sarcoma UK’s Sarcoma Research Symposium (Basic Science). September, 2016. London, UK.

Further Funding

  • Further funding of £80,000 secured through a Clinical Research Fellowship awarded by Health Education England to Clare Turnball and Adrienne Flannagan. 2017.

Patients Recruited

  • Samples were taken from 213 patients.
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