Sarcoma is a rare type of cancer that arises in connective tissues and is estimated to account for 1-3% of all cancers. Sarcomas pose a significant burden of disease because of the relatively young age of diagnosis compared to other cancers. Numerous studies have reported that close relatives of individuals with cancer are at increased risk for cancer of the same and different sites, representing a familial cancer predisposition syndrome (FCPS).

There is growing evidence that susceptibility to sarcoma can have a heritable component. The International Sarcoma Kindred Study (ISKS) has recruited a large cohort of cluster cancer families, ascertained from an index sarcoma patient to facilitate the identification of genetic risk factors. These families have been screened for known cancer causing mutations, with many families showing no plausible involvement of any.

In this study, pre-screened cluster families from the ISKS cohort (i.e., negative for known cancer causing mutations) will be subjected to whole exome sequencing (WES) for the initial discovery of novel candidate genetic risk factors for sarcoma. These putative cancer predisposing mutations will be evaluated by deep DNA sequencing in the entire ISKS family cohort and in a large collection of sarcoma patients.

The principal objective of this project is to identify genetic variants that predispose individuals for sarcoma.


This project is a collaborative effort between GOHaD, the Perth Orthopaedic Institute, Hollywood Private Hospital, the Harry Perkins Institute for Medical Research, the International Sarcoma Kindred Study and Sock it to Sarcoma!.


Funding for the project is provided by Sock It To Sarcoma!

Selected publications

  • Jones, R. M., Wood, D. (2013). “Sarcoma genomics.” Bone and Joint360 2(6): 2-8. [link]

Relevant links

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