![]() Thomas, Martin Tattersall, Susan Neuhaus, Craig Lewis, Kathy Tucker, Richard Carey-Smith, David Wood, Sandro Porceddu, Ian Dickinson, Heather Thorne, Paul James, Isabelle Ray-Coquard, Jean-Yves Blay, Philippe Cassier, Axel Le Cesne, Florence Duffaud, Nicolas Penel, Nicolas Isambert, Jean-Emmanuel Kurtz, Ajay Puri, Rajiv Sarin, Jin-Hee Ahn, Jeong Eun Kim, Iain Ward, Ian Judson, Winette van der Graaf, Beatrice Seddon, Coonoor Chandrasekar, Rory Rickar, Ivo Hennig, Joshua Schiffman, R. Lor Randall, Kathy Tucker, Ian Judson, Rajiv Sarin, Thomas Ludwig, Emmanuelle Genin, Jean-Francois Deleuze, Michelle Haber, Glenn Marshall, Murray J. Powell, Edwin Cuppen, Kristel van Eijk, Jan Veldink, Jin-Hee Ahn, Jeong Eun Kim, R. Green, Warren Kaplan, Shyamsundar Ravishankar, Joseph Copty, Joseph E. Meza-Zepeda, Hilda Pickett, Maya Kansara, Nicola Waddell, Olga Kondrashova, John V. James, Jean-Emmanuel Kurtz, Nicolas Penel, Ola Myklebost, Leonardo A. van der Graaf, Ajay Puri, Florence Duffaud, Axel Le Cesne, Beatrice Seddon, Coonoor Chandrasekar, Joshua D. Mundra, Milita Zaheed, Emma Rath, Peter Priestley, Jonathan Baber, Isabelle Ray-Coquard, Nicholas Isambert, Sylvain Causeret, Winette T. Ballinger, Swetansu Pattnaik, Piyushkumar A. The ISKS, established in Australia in 2008, is the largest sarcoma genetic study in the world, including more than 3,500 families recruited from 23 cancer centres in seven countries. The researchers used data collected from the International Sarcoma Kindred Study (ISKS) and the Genetic Cancer Risk in the Young (RisC) studies. The research paves the way for people with a family history of sarcoma to test for their genetic risk of developing the disease. These findings fill important gaps in the missing heritability of cancer," Professor Thomas said. This international collaboration has developed new methods for mapping the genetic basis for cancer and identified new heritable pathways that increase cancer risk. "Cancer is fundamentally a genetic disease, and genomics is the key to unlocking its secrets. The study was co-led by Professor David Thomas, Head of the Genomic Cancer Medicine Laboratory at Garvan and CEO of Omico, a non-profit nationwide network of genomic cancer research and treatment centres. "This research offers hope to sarcoma patients, because it increases the chance of a diagnosis at an early and curable stage." "Receiving a sarcoma diagnosis can be devastating," Jonathan said. ![]() Jonathan Granek, who was diagnosed with a sarcoma at 26 years of age, said that these new findings are important to sarcoma patients. "The findings uncovered by this research are so important, because by understanding how individuals develop sarcomas, we move closer to earlier detection and better treatments," said lead author of the paper, Dr Mandy Ballinger, Group Leader of the Genetic Cancer Risk Group at Garvan. ![]() In addition, the research team identified a previously unrecognised genetic pathway specific to sarcomas. The researchers found that one in 14 individuals diagnosed with sarcoma carries a clinically important gene that explains why the cancer arose. The new study, published in the journal Science, has generated a comprehensive map of how the inheritance of genes may impact families affected by sarcoma. To date, there has been little research into the genetic basis of sarcomas. Often occurring in children and young adults, sarcomas account for about 20% of the cancers diagnosed in people under the age of 20. Sarcomas are rare cancers arising in bone, muscle, fat, or cartilage.
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