International Sarcoma Kindred Study (ISKS)

Sarcomas are cancers of the connective tissues that can occur throughout the body.  Sarcomas contribute disproportionately to cancer burden in our community, because they affect a younger population.  Genetic factors appear important in sarcomas, although they have not been well studied for the adult population.  Identifying those at increased risk may lead to early detection, more effective treatment and better survival.  



ISKS is a global genetic, biological, epidemiological and clinical resource for researchers to investigate important questions relating to the hereditary characteristics of sarcoma.



ISKS is funded by different mechanisms in each participating country.  The Rainbows for Kate Foundation has generously financed the establishment and recruitment phases of the study in Australia as well as supporting the international infrastructure by funding the ISKS customized database. Other funding sources to date include the National Health and Medical Research Council, the Victorian Cancer Agency, Cancer Australia, the UK Sarcoma Trust and the Liddy Shriver Sarcoma Initiative.    



Anybody with adult-onset sarcoma (>15 years old) is eligible for the study.  Family members may also be invited to participate if the person with sarcoma is under 45 years of age or there is a significant history of cancer in the family.



  • Completing a questionnaire
  • A research assistant will ask you questions about your occupation, health, lifestyle, family medical history and your attitudes towards genetics and genetic research.  This will take about 30 minutes.  This may occur face to face or over the telephone. If necessary an interpreter can be arranged at any time.  
  • Providing a blood sample
  • The research assistant will arrange to have the sample taken and they will give you written instructions as to how to go about this at your local pathology service or GP, at no cost to yourself.  The blood will be stored in a central laboratory where genetic material (DNA and RNA) will be extracted and sometimes long living cell lines will be established.
  • Allowing ISKS to obtain a small part of any cancer tissue that has been removed in the past, or may be removed in the future.  
  • This tissue is in excess of anything needed by the pathologist.
  • Allowing medical information about yourself and deceased relatives to be collected from cancer registries and similar health organizations.
  • Agreeing to identify relevant family members/friends and asking them if they want to be approached by ISKS to participate in the study.  
  • None of your personal details will be revealed to other family members.
  • Agreeing to your specimens (blood and tissue) and information being used for cancer-related research purposes.



ISKS is a global initiative with the Global Study Centre located at the Garvan Institute of Medical Research.  ISKS Australia began recruitment in 2009 at several sites across Australia. Currently there are federated Local Study Centres in France, USA, NZ, India, UK, Canada and Korea. We aim to recruit 3000 families to the study worldwide.



There are over 1700 families participating in the ISKS worldwide with detailed pedigree information and cancer incidence.  In excess of 2300 bloods have been collected and approximately 2600 questionnaires completed.  Extensive clinical and epidemiological information has been gathered for each participating family.

The average age at onset for sarcoma in the ISKS cohort is 45.6 years (range 3-95 years) with the majority of sarcomas being of the soft tissue subtype (70%) although a substantial proportion of bone sarcomas have also been captured.  Family members have reported over 3000 cancers.  The average age at diagnosis for these other cancers is 58.9 years in the ISKS compared to 65.6 years in the general population, indicating an inherited risk within ISKS families.  



ISKS data and biospecimens are available to researchers.  ISKS participants donate a blood sample which is processed and stored at each of the recruitment sites.  Preserved DNA and white blood cell aliquots from each of these donations is centralized at the Garvan Institute of Medical Research.  In addition, confirmation of all cancers in these family members is sought from cancer registries, death certificates and pathology reports. Slides and blocks of tumour material are collected in addition.

Family history, clinical, epidemiological, pathological and mutation information are stored on the central ISKS database.  Other ISKS data are available, in a de-identified manner, to researchers for approved research projects. Investigators using ISKS material agree to submit new information found by that project to the central database so that molecular and biological information can be built up on these families and specimens.



The steps involved in applying to ISKS for access to biospecimens and/or data
  • sending a letter of intent by e-mail to Mandy Ballinger (   This is recommended but not mandatory.  In less than one page, please summarise the background, hypothesis, aims and research plan and list the lead investigators and their affiliations.
  • submitting a research proposal, together with the usual ancillary material.  
Applications for biological material and/or data are reviewed by the relevant ISKS Committees.
If the proposal has not been approved by or submitted to a granting agency, ISKS will seek the opinion of external reviewers, whose reports will be reviewed by the relevant ISKS Committee. In the event of disagreement between the external reviewers and the various committee members, the final decision will rest with Professor Thomas. In any event, final approval will be subject to appropriate ethical clearance.  



An increased incidence of Hodgkin’s lymphoma in patients with adult-onset sarcoma
Downing et al, Clinical Sarcoma Research 2012, 2:1
High frequency of germline TP53 mutations in a prospective adult-onset sarcoma cohort Mitchell et al, 2013 PLoS ONE Vol 8 Iss 7 e69026.

The attitudes of people with sarcoma and their family towards genomics and incidental information arising from genetic research
Young et al, 2013 Clinical Sarcoma Research 3:11.

Genome-wide association study identifies novel loci associated with osteosarcoma
Savage et al, 2013 Nature Genetics Vol 45 No 7, p799.

Germline TP53 mutations and Li-Fraumeni syndrome: an evidence based approach to cancer risks and clinical management
McBride et al, 2014 Nat Rev Clin Oncol 11, 260-270.

An international survey of awareness of genetic risk in the clinical sarcoma community

McBride et al, 2015 Asia Pacific Journal of Clincal Oncology

A genome-wide scan identifies variants in NFIB associated with metastasis in patients with osteosarcoma
Mirabello et al, 2015 Cancer Discovery 5(9): 920-31

Timing and Context: important considerations in the return of genetic results to research participants
McBride et al, 2015 Journal of Community Genetics; DOI 10.1007/s12687-015-0231-7

Surveillance recommendations for patients with germline TP53 mutations
Ballinger et al, 2015 Current Opinion in Oncology 27(4): 332-337

Etiologic, environmental and inherited risk factors in sarcomas
Thomas et al, 2015 Journal of Surgical Oncology 111: 490-495

Clinical implications of genomics for cancer risk genetics
Thomas et al, 2015 Lancet Oncology 16:e3030-8



Lead Investigator(s)


Germline osteosarcoma susceptibility genes

Dr Sharon Savage

National Cancer Institute, Rockville, MD, USA

Mapping of genetic modifier alleles in the p53 pathway in patients with sarcoma

Dr Gareth Bond

Ludwig Institute for Cancer Research, University of Oxford, UK

Surveillance Study in Multi-Organ Cancer prone syndromes – SMOC

A/Prof Paul James, Prof David Thomas & Dr Gillian Mitchell

Peter MacCallum Cancer Centre, Melbourne, Australia & Garvan Institute of Medical Research, Sydney

Germline MUYTH mutations in Ewing sarcoma

A/Prof Josh Schiffman

Huntsman Cancer Institute, Salt Lake City, Utah, USA

Whole exome sequencing of high risk sarcoma kindreds

Prof Eric Moses

University of Western Australia

Personalized risk assessment for families with Li Fraumeni Syndrome

A/Prof Wenyi Wang

MD Anderson Cancer Centre, Houston, Texas, USA

Development of a multi-factorial model to define cancer risk in patients carrying germline mutations in TP53

A/Prof Paul James

Peter MacCallum Cancer Centre, Melbourne, Australia

Quantifying genetic risk in sarcoma

Prof David Thomas

Garvan Institute of Medical Research, Sydney, Australia

Genomic screening and sarcoma: An assessment of the psychosocial and behavioural impact of genotype identified risk in ISKS Australia

A/Prof Bettina Meiser


Lowy Cancer Research Centre, University of NSW, Sydney, Australia


A screen for altered kinetics of DNA repair in sarcoma patients

A/Prof Olga Martin

Peter MacCallum Cancer Centre, Melbourne, Australia



The ISKS central resources are governed by the Global Steering Committee with representatives from each participating country.


ISKS Global Steering Committee

Principal Investigator

Prof David Thomas, The Kinghorn Cancer Centre, Garvan Institute of Medical Research, Sydney, Australia

Steering Committee Members

Dr Isabelle Ray-Coquard, Centre Leon Berard, Lyon, France
A/Prof Josh Schiffman, Huntsman Cancer Institute, Salt Lake City, Utah, USA
Prof Robert Maki, Mount Sinai Hospital, New York, USA
Prof Ajay Puri, Tata Memorial Centre, Mumbai, India
Dr Iain Ward, Christchurch Hospital, New Zealand
Prof Ian Judson, Royal Marsden Hospital, UK
Dr Sung-Min Ahn, Gachon University Gil Hospital, Korea
A/Prof Paul James, Peter MacCallum Cancer Centre, Melbourne, Australia
Dr Gillian Mitchell, British Columbia Cancer Agency, Vancouver, Canada

ISKS Global Co-ordinator & Research Fellow

Dr Mandy Ballinger, Garvan Institute of Medical Research, Sydney, Australia

ISKS Data Manager

Ms Eveline Niedermayr, Peter MacCallum Cancer Centre, Melbourne Australia


ISKS Local Study Centres (LSCs)

The resources and operations of the LSCs are overseen by local site investigators and steering committee members

Local Study Centres

Site Investigators & Steering Committee members

ISKS Australia

Prof David Thomas, Garvan Institute of Medical Research, Sydney

Ms Heather Thorne, Peter MacCallum Cancer Centre, Melbourne

Dr Kathy Tucker, Prince of Wales Hospital, Sydney

Dr Craig Lewis, Prince of Wales Hospital, Sydney

Prof Martin Tattersall, Royal Prince Alfred Hospital, Sydney

Dr Michael Gattas, Brisbane Genetics, Brisbane

A/Prof Susan Neuhaus, Royal Adelaide Hospital, Adelaide

Dr Richard Carey-Smith, Hollywood Private Hospital, Perth

Ms Mary-Anne Young, Peter MacCallum Cancer Centre, Melbourne

Dr Gillian Dite, University of Melbourne, Melbourne

A/Prof Paul James, Peter MacCallum Cancer Centre, Melbourne

ISKS Canada

Dr Paul Clarkson, BC Cancer Agency, Vancouver

Dr Gillian Mitchell, BC Cancer Agency, Vancouver

ISKS France

Dr Isabelle Ray-Coquard, Centre Leon Berard, Lyon
Dr Florence Duffaud, Chu la Timone Adultes, Marseille
Dr Axel Lecesne, Gustave Roussy, Villejuif
Dr Nicolas Penel, Cen. de lutte Contre le Cancer Oscar Lambret, Lille
Dr Nicolas Isambert, Centre Georges Francois Leclerc, Dijon
Prof Jean-Emmanuel Kurtz, Hopital Hautepierre, Strasbourg 


Dr Iain Ward, Christchurch Hospital, Christchurch


A/Prof Joshua Schiffman, Huntsman Cancer Institute, Salt Lake City

Prof Lor Randall, Huntsman Cancer Institute, Salt Lake City

Prof Robert Maki, Mount Sinai Hospital, New York

ISKS India

Prof Ajay Puri, Tata Memorial Centre. Mumbai

Prof Rajiv Sarin, ACTREC, Mumbai







Prof Ian Judson, Royal Marsden Hospital, London

Prof Winette van der Graaf, Institute of Cancer Research, London

Dr Beatrice Seddon, University College London Hospital

Prof Coonoor Chandrasekar, Royal Liverpool and Broadgreen University Hospital

ISKS Korea

Dr Sung-Min Ahn, Gachon University Gil Hospital, Seoul

Dr Jin-Hee Ahn, Asan Medical Centre, Seoul

Please feel free to contact the study team for any further information


Phone:  02 9355 5806


ISKS Project Officer: Emma Galligan

Phone: +61 3 8559 6544



Last update:
26-May-2017 04:20 PM








































Principle Investigator
  • Prof David Thomas
ISKS Global Co-ordinator & Research Fellow
  •   Dr Mandy Ballinger
Project Officer
  •  Emma Galligan
              Phone: +61 3 8559 6544