Coloured helix

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 and 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.

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. To achieve this objective we will pursue three specific aims.

  1. To perform WES in 5 cancer cluster families ascertained from an index sarcoma patient. WES will be performed using peripheral blood genomic DNA from family members and genomic DNA isolated from sarcoma tumour tissue.
  2. To prioritise putative cancer predisposing mutations segregating in these families. We will use the inheritance pattern of cancer in these families to assist us with the filtering of rare (MAF < 1%) non-synonymous exonic variants that are putative candidate predisposition mutations.
  3. To validate putative sarcoma predisposing mutations in independently ascertained unrelated sarcoma cases and to identify and evaluate the full mutational burden of the candidate susceptibility genes that they mark. 

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!:

  • Prof Eric Moses, GOHaD, UWA 
  • Prof David Wood, Perth Orthopaediac Institute and Hollywood Private Hospital
  • Assoc Prof Phillip Melton, GOHaD, UWA
  • Assoc Prof Evan Ingley, Harry Perkins Institute for Medical Research
  • Prof David Thomas, the Kinghorn Cancer Centre, Garvan Institute



Oral presentation

  • Rachel Jones, ‘Sarcoma genomics’. WA Sarcoma Awareness Week, June 2014.
  • 'Pros and cons of whole human genome screening in sarcoma patients'.  Australasian Sarcoma Study Group Meeting, November 15 2013.

Poster presentations

  • Rachel Jones, Evan Ingley, David Wood, David Thomas, Phillip Melton, and Eric Moses. ‘Identification of Genetic Risk Factors for Sarcoma families’.  CBSM, Perth, September 2014.
  • Rachel Jones, David Wood, Evan Ingley, Daniela Ulgiati and Eric Moses.  Poster: ‘Investigating genomics of sarcoma in families’. EMBL PhD Student Course, July 2014.


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

Relevant websites/links