Health
Study creates comprehensive genetic map to identify key genes that drive sarcoma
Several sarcoma-causing genes have been identified in the first comprehensive genetic map of sarcoma produced by research led by Omico, the Garvan Institute of Medical Research, and UNSW Sydney. This study has broad implications for people living with sarcoma and their families, and has the potential to enable early detection of cancer and improve patient survival.
Sarcoma is a rare cancer that forms in bone, muscle, fat, or cartilage. Sarcoma, which often occurs in children and young adults, accounts for about 20% of cancers diagnosed before the age of 20.
To date, little research has been done on the genetic basis of sarcoma.
New research published in the journal chemistryproduced a comprehensive map of how gene inheritance affects families with sarcoma.
Researchers found that 1 in 14 people diagnosed with sarcoma carry a clinically significant gene that explains why the cancer developed. In addition, the research team identified a previously unrecognized genetic pathway unique to sarcoma.
The findings uncovered by this study are very important because understanding how individuals develop sarcoma will move us closer to earlier detection and better treatment. ”
Dr. Mandy Ballinger, first author and group leader of Garvan’s Inherited Cancer Risk Group
Jonathan Granek, who was diagnosed with sarcoma at age 26, said these new findings are important for sarcoma patients.
“Getting a sarcoma diagnosis is devastating,” Jonathan said. ”
The study was co-led by Professor David Thomas, director of Garvan’s Genomic Cancer Medicine Laboratory and CEO of Omico, a nonprofit national network of genomic cancer research and treatment centers.
“Cancer is fundamentally a genetic disease, and genomics is the key to unlocking its secrets. Pathways have been identified.These findings fill an important gap in missing genes: cancer heritability,” said Professor Thomas.
This study paves the way for examining the genetic risk of developing the disease in people with a family history of sarcoma.
The researchers used data collected from the International Sarcoma Kindred Study (ISKS) and the Inherited Risk of Cancer in Young People (RisC) study. Founded in Australia in 2008, ISKS is the world’s largest sarcoma gene study, including over 3,500 of his family members recruited from 23 cancer centers in 7 countries.
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Journal reference:
Ballinger, ML, and others. (2023) Inherited defects in telomere and mitotic function selectively predispose to sarcoma. Chemistry. doi.org/10.1126/science.abj4784.
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