Understanding familial aspects of sarcoma in adults: the International Sarcoma Kindred Study
Grant number: 1004017 | Funding period: 2011 - 2013
Inherited genetic risk is important in cancers that affect the young. The International Sarcoma Kindred Study (ISKS) is the world's first prospective study aiming to better understand how sarcomas can be inherited in families, and the genes that cause sarcomas. The ISKS is a multinational study led from Australia, with partners in the US, Europe and India, and aims to recruit over 3000 families affected by sarcoma.
Related publications (4)
A quantitative model to predict pathogenicity of missense variants in the TP53 gene
Cristina Fortuno, Arcadi Cipponi, Mandy L Ballinger, Sean Tavtigian, Magali Olivier, Vatsal Ruparel, Ygal Haupt, Sue Haupt, Kathy Tucker, Amanda B Spurdle, David M Thomas, Paul A James
Germline pathogenic variants in the TP53 gene cause Li-Fraumeni syndrome, a condition that predisposes individuals to a wide range..
Monogenic and polygenic determinants of sarcoma risk: an international genetic study
Mandy L Ballinger, David L Goode, Isabelle Ray-Coquard, Paul A James, Gillian Mitchell, Eveline Niedermayr, Ajay Puri, Joshua D Schiffman, Gillian S Dite, Arcadi Cipponi, Robert G Maki, Andrew S Brohl, Ola Myklebost, Eva W Stratford, Susanne Lorenz, Sung-Min Ahn, Jin-Hee Ahn, Jeong Eun Kim, Sue Shanley, Victoria Beshay
BACKGROUND: Sarcomas are rare, phenotypically heterogeneous cancers that disproportionately affect the young. Outside rare syndrom..
High Frequency of Germline TP53 Mutations in a Prospective Adult-Onset Sarcoma Cohort
Gillian Mitchell, Mandy L Ballinger, Stephen Wong, Chelsee Hewitt, Paul James, Mary-Anne Young, Arcadi Cipponi, Tiffany Pang, David L Goode, Alex Dobrovic, David M Thomas
Sarcomas are a key feature of Li-Fraumeni and related syndromes (LFS/LFL), associated with germline TP53 mutations. Current penetr..
An increased incidence of Hodgkin's lymphoma in patients with adult-onset sarcoma.
Megan E Downing, Gillian S Dite, Mandy L Ballinger, null International Sarcoma Kindred Study Consortium
BACKGROUND: Sarcomas are rare, often fatal malignancies of connective tissues that can occur in genetic predisposition syndromes o..