Several genes that cause sarcoma have been identified in the first comprehensive genetic map of sarcoma produced by research led by Omico, the Garvan Institute of Medical Research and UNSW Sydney. The research has far-reaching implications for people living with sarcoma and their families – enabling earlier detection of the cancer and potentially improving patient survival.
Sarcomas are rare types of cancer that arise in bone, muscle, fat, or cartilage. Sarcomas are common in children and young adults and account for about 20% of cancers diagnosed in people under the age of 20.
The genetic basis of sarcomas has not been researched very well to date.
The new study, published in the journal Sciencehas created a comprehensive map of how gene inheritance can affect families affected by sarcoma.
The researchers found that one in 14 people diagnosed with sarcoma carries a clinically important gene that explains why the cancer developed. In addition, the research team identified a previously unknown genetic pathway specific to sarcomas.
“The results of this research are so important because understanding how people develop sarcomas brings us closer to earlier detection and better treatment,” said the paper’s lead author, Dr. Mandy Ballinger, group leader of the Genetic Cancer Risk Group at Garwan.
Jonathan Granek, who was diagnosed with sarcoma at the age of 26, said these new findings are important for sarcoma patients.
“Receiving a sarcoma diagnosis can be devastating,” Jonathan said. “This research gives hope to sarcoma patients because it increases the chance of an early and curable diagnosis.”
The study was co-led by Professor David Thomas, head of Garvan’s Cancer Genomics Laboratory and CEO of Omico, a non-profit nationwide network of genomic cancer research and treatment centers.
“Cancer is fundamentally a genetic disease, and genomics is key to unlocking its mysteries. This international collaboration has developed new methods for mapping the genetic basis of cancer and identified new heritable pathways that increase cancer risk. These findings fill important gaps that are still missing in heritability of cancer,” said Professor Thomas.
The research paves the way for people with a family history of sarcoma to test their genetic risk for developing the disease.
The researchers used data from the International Sarcoma Kindred Study (ISKS) and the Genetic Cancer Risk in the Young (RisC) studies. Established in Australia in 2008, the ISKS is the largest sarcoma gene study in the world, recruiting more than 3,500 families from 23 cancer centers in seven countries.