Rare childhood cancer genes revealed

Wednesday, 01 February, 2023

Rare childhood cancer genes revealed

Several genes that cause a rare childhood cancer have been identified in the first comprehensive genetic map of sarcomas, generated by international researchers. Published in the journal Science, the research has wide implications for people living with sarcoma and their families — allowing earlier detection of the cancer and potentially improving survival for patients.

Sarcomas are rare cancers arising in bone, muscle, fat or cartilage. Often occurring in children and young adults, sarcomas account for about 20% of the cancers diagnosed in people under the age of 20.

To date, there has been little research into the genetic basis of sarcomas. Now a research team led by Omico, the Garvan Institute of Medical Research and UNSW Sydney has generated a map of how the inheritance of genes may impact families affected by sarcoma, using data collected from the International Sarcoma Kindred Study (ISKS) — the largest sarcoma genetic study in the world — and the Genetic Cancer Risk in the Young (RisC) study.

The researchers found that one in 14 individuals diagnosed with sarcoma carries a clinically important gene that explains why the cancer arose. In addition, the team identified a previously unrecognised genetic pathway specific to sarcomas, opening up new cancer biology required to improve health outcomes.

“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,” said lead author Dr Mandy Ballinger, Group Leader of the Genetic Cancer Risk Group at Garvan. Indeed, the research paves the way for people with a family history of sarcoma to test for their genetic risk of developing the disease, detect any tumour occurrences much earlier and make more personalised decisions about treatments that can lead to far better outcomes.

The study was co-led by Professor 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 centres. He said, “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.”

Associate Professor Kathy Tucker, Clinical Lead of the Hereditary Cancer Clinic at Prince of Wales Hospital, concluded, “Why people develop these rare and devastating cancers has been a longstanding mystery. This paper fills in many missing pieces to the puzzle, which will change clinical practice.”

Image credit: iStock.com/OGphoto

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