Genes that cause rare hidden cancer revealed
- Date:
- January 19, 2023
- Source:
- Garvan Institute of Medical Research
- Summary:
- Several genes that cause sarcoma have been identified in the first comprehensive genetic map of sarcomas. The research has wide implications for people living with sarcoma and their families -- allowing detection of the cancer earlier and potentially improving survival for patients.
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Several genes that cause sarcoma have been identified in the first comprehensive genetic map of sarcomas, generated by research led by Omico, the Garvan Institute of Medical Research and UNSW Sydney. The research has wide implications for people living with sarcoma and their families -- allowing detection of the cancer earlier and potentially improving survival for patients.
Sarcomas are rare cancers arising in bone, muscle, fat, or cartilage. Often occurring in children and young adults, sarcomas account for about 20% of the cancers diagnosed in people under the age of 20.
To date, there has been little research into the genetic basis of sarcomas.
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.
The researchers found that one in 14 individuals diagnosed with sarcoma carries a clinically important gene that explains why the cancer arose. In addition, the research team identified a previously unrecognised genetic pathway specific to sarcomas.
"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.
Jonathan Granek, who was diagnosed with a sarcoma at 26 years of age, said that these new findings are important to sarcoma patients.
"Receiving a sarcoma diagnosis can be devastating," Jonathan said. "This research offers hope to sarcoma patients, because it increases the chance of a diagnosis at an early and curable stage."
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.
"Cancer is fundamentally a genetic disease, and genomics is the key to unlocking its secrets. This international collaboration has developed new methods for mapping the genetic basis for cancer and identified new heritable pathways that increase cancer risk. These findings fill important gaps in the missing heritability of cancer," Professor Thomas said.
The research paves the way for people with a family history of sarcoma to test for their genetic risk of developing the disease.
The researchers used data collected from the International Sarcoma Kindred Study (ISKS) and the Genetic Cancer Risk in the Young (RisC) studies. 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.
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Materials provided by Garvan Institute of Medical Research. Note: Content may be edited for style and length.
Journal Reference:
- Mandy L. Ballinger, Swetansu Pattnaik, Piyushkumar A. Mundra, Milita Zaheed, Emma Rath, Peter Priestley, Jonathan Baber, Isabelle Ray-Coquard, Nicholas Isambert, Sylvain Causeret, Winette T. A. van der Graaf, Ajay Puri, Florence Duffaud, Axel Le Cesne, Beatrice Seddon, Coonoor Chandrasekar, Joshua D. Schiffman, Andrew S. Brohl, Paul A. James, Jean-Emmanuel Kurtz, Nicolas Penel, Ola Myklebost, Leonardo A. Meza-Zepeda, Hilda Pickett, Maya Kansara, Nicola Waddell, Olga Kondrashova, John V. Pearson, Andrew P. Barbour, Shuai Li, Tuong L. Nguyen, Diane Fatkin, Robert M. Graham, Eleni Giannoulatou, Melissa J. Green, Warren Kaplan, Shyamsundar Ravishankar, Joseph Copty, Joseph E. Powell, Edwin Cuppen, Kristel van Eijk, Jan Veldink, Jin-Hee Ahn, Jeong Eun Kim, R. Lor Randall, Kathy Tucker, Ian Judson, Rajiv Sarin, Thomas Ludwig, Emmanuelle Genin, Jean-Francois Deleuze, Michelle Haber, Glenn Marshall, Murray J. Cairns, Jean-Yves Blay, David M. 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, Audrey Silvestri, Anaiis Zaratzian, Michael Tayao, Kelly Walwyn, Eveline Niedermayr, Denia Mang, Richard Clark, Tina Thorpe, Jessica MacDonald, Kim Riddell, Jasmine Mar, Vicki Fennelly, Allison Wicht, Belinda Zielony, Emma Galligan, Genna Glavich, Johanna Stoeckert, Lynda Williams, Lana Djandjgava, Iwona Buettner, Carla Osinki, Sonya Stephens, Muriel Rogasik, Laure Bouclier, Magali Girodet, Amandine Charreton, Yohan Fayet, Saniya Crasto, Bhanupriya Sandupatla, Yeon Yoon, Noda Je, Liz Thompson, Trent Fowler, Bella Johnson, Galina Petrikova, Thomas Hambridge, Angela Hutchins, Diego Bottero, Deborah Scanlon, Jo Stokes-Denson, Emmanuelle Génin, Dominique Campion, Jean-François Dartigues, Jean-François Deleuze, Jean-Charles Lambert, Richard Redon, Thomas Ludwig, Benjamin Grenier-Boley, Sébastien Letort, Pierre Lindenbaum, Vincent Meyer, Olivier Quenez, Christian Dina, Céline Bellenguez, Camille Charbonnier Le Clézio, Joanna Giemza, Stéphanie Chatel, Claude Férec, Hervé Le Marec, Luc Letenneur, Gaël Nicolas, Karen Rouault. Heritable defects in telomere and mitotic function selectively predispose to sarcomas. Science, 2023; 379 (6629): 253 DOI: 10.1126/science.abj4784
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