International Sarcoma Kindred Study

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. 


What is ISKS?


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



How is ISKS funded?

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 and the UK Sarcoma Trust.   

Who is eligible to participate in ISKS?

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.



What does participation in ISKS involve?

  • Completing a questionnaire

         A research nurse will ask you questions about your occupation, health, lifestyle, family medical history and your attitudes towards genetics and genetic research.  This will take about 45 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 nurse will arrange to have the sample taken when you see her or she 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 Recruitment Sites

ISKS is a global initiative with the Global Study Centre located at the Peter MacCallum Cancer Centre.  ISKS Australia began recruitment in 2009 at several sites across Australia. Currently there are federated Local Study Centres at the Centre Leon Berard in Lyon, France, the Huntsman Cancer Institute in Utah, USA, the Christchurch Hospital in Christchurch, New Zealand and the Tata Memorial Hospital in Mumbai, India.  Sites in the UK and Canada are currently being established.  We aim to recruit 3000 families to the study worldwide.



ISKS Collection Summary

The initial Australian target of 600 families was exceeded at the end of 2011 and the French, New Zealand, Indian and USA sites are now adding steadily to that number.  There are more than 850 families enrolled with detailed pedigree information and cancer incidence verified for each.  In excess of 1500 bloods have been collected and approximately 1700 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 46.6 years (range 3-95 years) with the majority of sarcomas being of the soft tissue subtype although a substantial proportion of bone sarcomas have also been captured.  Family members have reported another 2079 cancers.  The average age at diagnosis for these other cancers is 57.9 years in the ISKS compared to 65.6 years in the general population, indicating an inherited risk within ISKS families. 



ISKS resources are available to researchers

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 WBC aliquots from each of these donations is centralised at the Peter MacCallum Cancer Centre.  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.


Applying for access to ISKS resources

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 A/Prof Thomas. In any event, final approval will be subject to appropriate ethical clearance. 

Manuscripts arising from ISKS

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

Deep sequencing of a cancer family:insights into cancer evolution and clinical outcomes, Ballinger et al, submitted Journal Clilnical Oncology

Genome-wide associateion study identifies novel loci associated with osteosarcoma, Savage et al, accepted Nature Genetics 2013

High frequency of germline TP53 mutations in a prospective adult-onset sarcoma cohort, Mitchell et al. Accepted PLoS ONE 2013

An increased incidence of Hodgkins Lymphoma in patients with adult-onset sarcoma, Downing et al, Clinical Sarcoma Research 2012, 2:1


Current projects utilizing ISKS resources



Lead Investigator


Blood test for ALT-positive cancers

Dr Jeremy Henson

Children’s Medical Research Institute, Sydney, Australia

Osteosarcoma Genome-wide Association Scan

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


Pilot Surveillance Study in Multi-Organ Cancer prone syndromes – SMOC

Dr Gillian Mitchell

Peter MacCallum Cancer Centre, Melbourne, Australia

Telomere length in Familial Sarcoma

A/Prof Joanne Dickinson

Menzies Research Institute Tasmania, University of Tasmania, Australia


Research participants’ and healthcare professionals’ views of the feedback of genetic test information following participation in the ISKS

Dr Nina Hallowell

Institute of Health and Society, UK

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

A/Prof David Thomas

Peter MacCallum Cancer Centre, Melbourne, Australia

Personalized risk assessment for families with Li Fraumeni Syndrome 


Immunohistochemistry for transposon encoded protein LINE-1 ORF1p


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


Quantifiying genetic risk in sarcoma

A/Prof Wenyi Wang



A/Prof Kathleen Burns


A/Prof Paul James




A/Prof David Thomas

MD Anderson Cancer Centre, Houston, Texas, USA


Johns Hopkins University, USA



Peter MacCallum Cancer Centre, Melbourne Australia



Peter MacCallum Cancer Centre, Melbourne Australia



ISKS Governance


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

ISKS Global Steering Committee

Principal Investigator

A/Prof David Thomas, Peter MacCallum Cancer Centre, Melbourne, 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 Ajay Puri, Tata Memorial Centre, Mumbai, India

Dr Iain Ward, Christchurch Hospital, New Zealand

Prof Ian Judson, Royal Marsden Hospital, UK

Dr Beatrice Seddon, University College London Hospital, UK

Dr Paul Clarkson, British Columbia Cancer Agency, Vancouver, Canada


ISKS Manager

Dr Mandy Ballinger, Peter MacCallum Cancer Centre, Melbourne 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 Centre

Site Investigators & Steering Committee members

ISKS Australia

A/Prof David Thomas, PI

Dr Gillian Mitchell

Ms Heather Thorne

Prof Loane Skene

Dr Kathy Tucker

Dr Craig Lewis

Prof Martin Tattersall

A/Prof Sandro Porceddu

Dr Michael Gattas

A/Prof Susan Neuhaus

Dr Richard Carey-Smith

Ms Mary-Anne Young

Dr Gillian Dite

Prof Graeme Suthers

Dr Paul James


ISKS Canada

Dr Paul Clarkson, PI


ISKS France

Dr Isabelle Ray-Coquard, PI


Dr Iain Ward, PI


ISKS USA Huntsman

A/Prof Joshua Schiffman, PI

Prof Lor Randall


ISKS India

Prof Ajay Puri, PI

Prof Rajiv Sarin


ISKS UK Marsden

Prof Ian Judson, PI

Dr Charlotte Benson


Dr Beatrice Seddon, PI





Last update:
16-May-2013 03:37 PM












































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