Australian researchers have constructed the first genomic map to pinpoint key genes responsible for sarcoma, one of the most deadly tumors in children.

Several sarcoma-causing genes have been uncovered in the first complete genetic map of sarcomas, which was created by Omico, the Garvan Institute of Medical Research, and UNSW Sydney researchers.

The findings have far-reaching consequences for individuals living with sarcoma and their families, possibly enabling early diagnosis of the disease and enhancing patient survival.

Sarcomas are rare cancers that start in bone, muscle, fat, or cartilage. Sarcomas are common in children and young adults, accounting for roughly 20% of malignancies diagnosed in those under the age of 20.

To yet, little study has been conducted on the genetic basis of sarcomas.

The new study, which was published in the journal Science, created a detailed map of how genes may affect families with sarcoma based on how they are passed down.

The researchers discovered that one in every 14 people with sarcoma possesses a clinically significant gene that explains why the tumour developed. The study team also discovered a previously unknown genetic mechanism exclusive to sarcomas.

“The findings uncovered by this research are so important,” remarks lead author Dr. Mandy Ballinger, “because by understanding how individuals develop sarcomas, we move closer to earlier detection and better treatments.”

Jonathan Granek, who was 26 when he was diagnosed with a sarcoma, said that these new findings are important for people with sarcoma.

“Receiving a sarcoma diagnosis can be devastating,” Jonathan adds. “This research offers hope to sarcoma patients, because it increases the chance of a diagnosis at an early and curable stage.”

“Cancer is fundamentally a genetic disease, and genomics is the key to unlocking its secrets,” says co-author prof. David Thomas. 

“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.”

The study opens the door for individuals with a familial history of sarcoma to determine their genetic susceptibility to the condition.

Source: 10.1126/science.abj4784 

Image Credit: Garvan