International Sarcoma Kindred Study
Study Manager
Dr Mandy Ballinger, Peter MacCallum Cancer Centre, Victoria
Contact
Telephone 1800 663 916 or Email isks@petermac.org
OverviewSarcomas contribute disproportionately to cancer burden in our community, because they affect the young, treatment is costly and prolonged, and morbidity and mortality is high. Genetic factors appear important in sarcomas, although they have not been well studied for the adult population. Early detection by identifying those at risk may lead to better prognoses.
The International Sarcoma Kindred Study (ISKS) is creating a vital research resource to enable further study into the genetic factors contributing to the hereditary risk of developing sarcoma. The Australian arm of the study is currently funded by the Rainbows for Kate Foundation.
Potential study participants are identified at key sarcoma clinics, asked to complete a questionnaire and donate a blood sample. The biospecimens are stored indefinitely in a tissue bank to be utilised by researchers investigating genetic factors contributing to cancer. Information obtained from the questionnaire will be used to ascertain the family history of cancer and other factors that may contribute to development of the disease. The ongoing nature of this project will enable continual provision of important practical information for clinicians and patients leading to more favourable outcomes.
Recruitment so far…Over 400 sarcoma patients and their families are currently participating in the study. We expect to meet the international target of 3000 families in three years. Sarcomas affect the young, with the average age of diagnosis in the study being only 45 years. After collecting medical information and completing pedigrees for the ISKS families, we have identified more than 1000 cancer cases in family members, in addition to the sarcoma cases. The average age at diagnosis for these other cancers is approximately 10 years younger than in the general population.
Recruitment began in July 2009 and is currently occurring at 7 key sarcoma clinics across 5 states in Australia as well as internationally. Sites include the Peter MacCallum Cancer Institute in Melbourne, the Prince of Wales and Royal Prince Alfred Hospitals in Sydney, the Princess Alexandra and Wesley Hospitals in Brisbane, the Royal Adelaide Hospital in Adelaide and Hollywood Private Hospital in Perth. The Tata Memorial Hospital in India began recruitment in January 2011 with sites in France and NZ shortly to come on line.
What is a familial cancer syndrome?
Cancer is common and in most cases is not due to an inherited factor. The ISKS, however, is based on the hypothesis that there is a large heritable component in families affected by sarcoma.
A familial cancer syndrome is characterised by a recognised aggregation of certain types of cancers in a family and causes family members to be at increased risk of developing cancer. Several familial cancer syndromes have been identified and they are often associated with specific gene changes, also called mutations. A well known example is the relationship between an increased risk for breast and ovarian cancer in women with a BRCA1/2 gene mutation.
Li Fraumeni Syndrome and Sarcomas
The Li Fraumeni Syndrome (LFS) is associated with greatly increased risks of cancer in affected families and is most often caused by mutations in the TP53 gene. Sarcoma is the most common single cancer in families affected by Li Fraumeni syndrome.
Li Fraumeni like (LFL) families have also been described, in which the patterns of cancers are similar to LFS but don’t meet the strictest definition. Recognising a family with a cancer history that indicates a familial cancer syndrome helps doctors identify families that may carry a gene mutation. However, there are also many families with odd cancer patterns that do not fit any of the recognised familial cancer syndromes. Such is often the case with sarcoma families.
Clinical significance of inherited risk
In the ISKS we are analysing families for the syndromes and mutations that have already been identified, and we are also investigating and characterising new factors that contribute to sarcoma.
Last update: 09-Jun-2011 05:09 PM
