Several sarcoma-causing genes have been identified in the first comprehensive genetic map of sarcoma, generated by research led by Umeko, the Garvan Institute of Medical Research and the University of New South Wales in Sydney. The research has broad implications for people living with sarcoma and their families – allowing cancer to be detected earlier and potentially improving patients’ survival.
Sarcomas are rare cancers that appear in bone, muscle, fat, or cartilage. Sarcomas most often occur in children and young adults, and they account for about 20% of cancers diagnosed in people under the age of 20.
To date, there has been little research on the genetic basis of sarcoma.
The new study published in the journal SciencesA comprehensive map of how the inheritance of genes affects families affected by sarcoma.
Researchers have found that one in 14 people with sarcoma carries a clinically important gene that explains why the cancer develops. In addition, the research team identified a previously unknown genetic pathway specific to sarcoma.
said lead author of the paper, Dr. Mandy Ballinger, chair of the Garvan Hereditary Cancer Risk Group.
These new findings are important for sarcoma patients, said Jonathan Granik, who was diagnosed with sarcoma at age 26.
“Receiving a sarcoma diagnosis can be devastating,” said Jonathan. “This research offers hope for sarcoma patients, as it increases the chance of being diagnosed at an early, curable stage.”
The study was co-led by Professor David Thomas, head of the Cancer Genomic Medicine Laboratory at Garvan and CEO of Omico, a national nonprofit network of cancer genomic 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 for mapping the genetic basis of cancer and has identified novel genetic pathways that increase cancer risk. These findings fill in important gaps in the missing cells,” said Professor Thomas.
The research paves the way for people with a family history of sarcoma to be tested for genetic risk of developing the disease.
The researchers used data collected from the International Sarcoma Study (ISKS) and Genetic Cancer Risk in Young People (RisC) studies. Established in Australia in 2008, ISKS is the largest genetic study of sarcoma in the world, including more than 3,500 families recruited from 23 cancer centers in seven countries.