The International Sarcoma Kindred Study: a global multi-site prospective cancer genetics study

Principal Investigators: 
Award Amount: 
£40,000
Duration: 
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.

TAZ & rhabdomyosarcoma (RMS): TAZ expression in human samples, TAZ transformation of myoblasts and YAP/TAZ drug discovery

Principal Investigators: 

Dr Henning Wackerhage

Institution: 
Award Amount: 
£24,080
Duration: 
2 years

This project is based at the University of Aberdeen, but will involve collaborators from London (Institute of Cancer Research) and as far afield as Switzerland (Swiss Institute of Bioinformatics). Rhabdomyosarcomas are cancers where cells resemble dividing muscle cells. These cancers are aggressive and occur mainly in children. In this project, Dr Wackerhage and his team will study a gene called TAZ that they have found to be highly active in rhabdomyosarcomas.

During the project, the team will study various aspects of the relationship between TAZ and rhabdomyosarcoma, including:

Assessing the potential of circulating tumour DNA as a new biomarker for low grade bone and soft tissue neoplasms

Principal Investigators: 

Dr Tim Forshew

Award Amount: 
£25,680
Duration: 
6 months

Project Summary

Study to investigate correlations between age-dependant pharmacokinetic variation, side effects of chemotherapy and biomarkers of toxicity in Ewing’s sarcoma

Principal Investigators: 
Award Amount: 
£43,490
Duration: 
3 years

This project will be investigating what happens to the key drugs administered to Ewing’s sarcoma patients once they have entered the body – how they are broken down and what factors are important for determining response and toxicity, to gain more information in order to improve treatment strategies.  This may be particularly important for teenagers and young adults, the most commonly diagnosed group, as they may handle drugs differently to younger children.  Modifying drug doses for different patient groups will allow the achievement of drug exposures which are most likely to be beneficial

Role of TTBK2 and cilia in sarcoma progression

Principal Investigators: 
Institution: 
Award Amount: 
£58,415
Duration: 
1 year

Most cells of the human body have structures known as cilia, which are critical for the cell’s ability to sense its external environment.  It has been suggested that there is a potential link between these structures and cancer development.  In fact, 70-100% of sarcomas show loss of these primary cilia and the structures that give rise to cilia: centrioles.  However, the role of cilia, and the genes associated with cilia formation in the development of sarcoma, is as yet unknown.

Dissecting the mechanisms of pazopanib in soft tissue sarcoma

Principal Investigators: 
Institution: 
Award Amount: 
£31,301
Duration: 
1 year

Pazopanib, a drug that targets a class of genes known as ‘kinases’, was recently approved for the treatment of advanced sarcoma.  While some patients respond well to pazopanib, the drug does not work in all cases, meaning that some patients are exposed to the potential side effects of the treatment for little or no benefit.  At present, it is challenging to predict who will respond to pazopanib, and it would be helpful to find tumour markers that enable doctors to identify the right patients to administer the drug.  Furthermore, because it is unknown as to why some patients do not respond t

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

Principal Investigators: 
Institution: 
Award Amount: 
£92,365

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.

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