Sarcoma UK Professor Judson
Principal Investigators: 
Award Amount: 
2 years

If one day we can identify individuals at high risk of developing sarcomas this could lead to earlier detection and more effective treatment of these tumours. Sarcoma studies involving families have so far been limited to a lot of work in children, but the 90% of sarcomas that arise in adults have not been represented. The International Sarcoma Kindred Study (ISKS) has been set up to identify, validate and quantify genetic risk in patients with adult-onset sarcoma. This is an international initiative, with nine major international sarcoma centres in USA, Europe and Asia taking part, to ensure genetic diversity. This gives sarcoma patients and their families the opportunity to take part in, and potentially directly benefit from, this first-of-its-kind-in-sarcoma study. The study will be of direct and immediate benefit to patients in the investigation and identification of their risk of developing further sarcomas or other cancers, and the associated risk to their family members. All participants will be offered full support and referral to counselling services. Sarcoma UK is funding the UK arm of this study for two years.

End of Project Summary

The primary aim of the Kindred Study is to establish an international database and bio-specimen repository to be used as a resource for researching clinical cancer genetics of sarcomas. An additional aim is to utilise the International Sarcoma Kindred Registry (ISKR) to develop clinically useful, population-based criteria for stratifying genetic or hereditary risk for adult-onset sarcoma and make this registry available to researchers. Community attitudes to genetic research will also be evaluated by sending out questionnaires for participants to complete.

Since the trial opened in the UK, there have been a considerable number of participants recruited from both sites. To date, there have been 120 participants consented from The Royal Marsden Hospital, 26 of them family members. At the University College Hospital London, there have been 55 participants consented, 12 of these were family members.

A paper on more than 1,000 patients entered into the study worldwide will shortly be submitted for publication

Future Research

There are currently plans to open additional study sites in the UK. In fact, the Royal Liverpool and Broadgreen University Hospitals NHS Trust are currently in the advanced stages of site setup and are likely to start recruitment soon. Moreover, further emphasis will now be placed on recruiting family members at the Royal Marsden Hospital who have extensive family history of cancer. There will also be a shipment of DNA samples collected from each patient to the trial team in Australia in the near future, which will allow genetic analysis and research to take place.

An additional grant has been obtained from the Liddy Shriver Sarcoma Initiative of $50,000 to support DNA extraction and shipping, ongoing recruitment and local research.  While the majority of the molecular analysis is to be carried out in Australia, an application will be made initially to the Biomedical Research Centre to support next generation DNA sequencing studies at RMH. 




Patients Recruited

  • 441 patients were involved in this study


  • Cancer gene tests ‘reveal family link.’ Media coverage published online at BBC Health News. August, 2016.
  • Sarcoma UK-funded research makes discovery in ‘cancer families.’ Media coverage published online at Sarcoma UK News. August, 2016.
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