Several sarcoma-causing genes have been identified in the first comprehensive genetic map of sarcomas, generated by research led by Omico, the Garvan Institute for Medical Research and UNSW Sydney. The research has broad implications for people living with sarcoma and their families, allowing for earlier cancer detection and potentially improving patient survival.
Sarcomas are rare cancers that arise in bone, muscle, fat, or cartilage. Sarcomas, which often affect children and young adults, account for about 20% of cancers diagnosed in people younger than 20 years.
To date, there has been little research on the genetic basis of sarcomas.
The new study, published in the journal Sciencehas generated a comprehensive map of how gene inheritance can affect 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 unrecognized genetic pathway specific to sarcomas.
“The findings uncovered by this research are very important, because by understanding how people develop sarcomas, we move closer to earlier detection and better treatments,” said the paper’s lead author, Dr. Mandy Ballinger, risk group leader. of genetic cancer in Garván.
Jonathan Granek, who was diagnosed with sarcoma at age 26, said these new findings are important for 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, Director of the Laboratory of Genomic Cancer Medicine at Garvan and CEO of Omico, a national not-for-profit network of genomic cancer research and treatment centers.
“Cancer is fundamentally a genetic disease, and genomics is the key to unlocking its secrets. This international collaboration has developed new methods to map the genetic basis of cancer and identified new hereditary pathways that increase cancer risk. These findings fill important gaps in the lack of heritability of cancer,” said Professor Thomas.
The research paves the way for people with a family history of sarcoma to look at their genetic risk of developing the disease.
The researchers used data collected from the International Sarcoma Kin Study (ISKS) and the Genetic Risk of Cancer in the Young (RisC) studies. The ISKS, established in Australia in 2008, is the world’s largest sarcoma genetic study, including more than 3,500 families recruited from 23 cancer centers in seven countries.