Several sarcoma-causing genes 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 broad implications for people living with sarcoma and their families — allowing the cancer to be detected earlier and potentially improving patient survival.
Sarcomas are rare cancers that arise in bone, muscle, fat or cartilage. Often occurring in children and young adults, sarcomas account for about 20% of cancers diagnosed in people under the age of 20.
To date, little research has been done on the genetic basis of sarcomas.
The new study, published in the journal Sciencehas generated a comprehensive map of how the inheritance of genes can affect families affected by sarcoma.
The researchers found that one in 14 people diagnosed with sarcoma have 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 revealed by this research are so important, because by understanding how individuals develop sarcomas, we are moving closer to earlier detection and better treatments,” said lead author of the paper, Dr. Mandy Ballinger, Group Leader the Genetic Cancer Risk Group at Garvan.
Jonathan Granek, who was diagnosed with sarcoma at the age of 26, said that these new results are important for sarcoma patients.
“A sarcoma diagnosis can be devastating,” Jonathan said. “This research provides hope for sarcoma patients, as it increases the chances of an early and curable diagnosis.”
The study was led by Professor David Thomas, Head of the Genomic Cancer Medicine Laboratory in Garvan and CEO of Omico, a national not-for-profit network of genomic cancer research and treatment centres.
“Cancer is essentially 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 heritable pathways that increase cancer risk. Fills these results are missing important gaps in the heredity of cancer,” said Professor Thomas.
The research paves the way for people with a family history of sarcoma to be tested for their genetic risk of developing the disease.
The researchers used data collected from the International Kindred Sarcoma Study (ISKS) and the Genetic Cancer Risk in Youth (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 centers in seven countries.