Sarcomas are rare cancers arising in bone, muscle, fat, or cartilage and account for about 20% of the cancers diagnosed in people under the age of 20. Now, researchers from Omico, the Garvan Institute of Medical Research, and UNSW Sydney report several genes that cause sarcoma have been identified in the first comprehensive genetic map of sarcomas.

Their new study is published in Science in an article titled, “Heritable defects in telomere and mitotic function selectively predispose to sarcomas.”

“Cancer genetics has to date focused on epithelial malignancies, identifying multiple histotype-specific pathways underlying cancer susceptibility,” wrote the researchers. “Sarcomas are rare malignancies predominantly derived from embryonic mesoderm. To identify pathways specific to mesenchymal cancers, we performed whole-genome germline sequencing on 1,644 sporadic cases and 3,205 matched healthy elderly controls.”

The researchers found that one in 14 individuals diagnosed with sarcoma carries a clinically important gene. The researchers also identified a previously unrecognized genetic pathway specific to sarcomas.

“The findings uncovered by this research are so important because by understanding how individuals develop sarcomas, we move closer to earlier detection and better treatments,” explained Mandy Ballinger, PhD, lead author of the paper, and group leader of the genetic cancer risk group at Garvan.

“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 for cancer and identified new heritable pathways that increase cancer risk. These findings fill important gaps in the missing heritability of cancer,” said David Thomas, head of the Genomic Cancer Medicine Laboratory at Garvan and CEO of Omico, a non-profit nationwide network of genomic cancer research and treatment centers.

The map and findings pave the way for people with a family history of sarcoma to test for their genetic risk of developing the disease.

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