Discovery of the gene responsible for rare childhood cancer

The first thorough genetic map of sarcomas, created by research led by Omico, the Garvan Institute of Medical Research, and UNSW Sydney, has revealed several genes that contribute to a rare childhood cancer.

Discovery of the gene responsible for rare childhood cancer
Dr Mandy Ballinger. Image Credit: Garvan Institute of Medical Research

The study has broad potential consequences for those who have sarcoma and their families because it could lead to earlier cancer detection and possibly longer patient lives.

Sarcomas are rare cancers that develop in bone, muscle, fat, or cartilage. Sarcomas account for about 20% of cancer diagnoses in people under the age of 20 and are frequently seen in children and young adults.

The genetic origins of sarcomas have received little attention up to this point.

The new study, which was reported in the journal Science, has produced a thorough map of how the inheritance of genes could impact sarcoma-affected families.

The researchers discovered that one in 14 people with sarcoma carries a clinically significant gene that explains how cancer developed. The research team also discovered a genetic pathway unique to sarcomas that had not previously been known.

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.

Dr Mandy Ballinger, Study Lead Author and Group Leader, Genetic Cancer Risk Group, Garvan Institute of Medical Research

These discoveries are significant for sarcoma patients, according to Jonathan Granek, who was 26 when he received his sarcoma diagnosis.

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

Professor David Thomas, CEO of Omico, a non-profit nationwide network of genomic cancer research and treatment centers, and Head of the Genomic Cancer Medicine Laboratory at Garvan was the co-leader of the study.

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.

David Thomas, Study Co-Lead and Chief Executive Officer, Omico

The study opens the door for individuals with a family history of sarcoma to get tested for their genetic susceptibility to the condition.

Data from the Genetic Cancer Risk in the Young (RisC) and International Sarcoma Kindred Study (ISKS) studies were used by the researchers. With more than 3,500 families recruited from 23 cancer centers across seven countries, the ISKS, which was founded in Australia in 2008, is the largest sarcoma genetic study ever conducted.

Source:
Journal reference:

Ballinger, M. L., et al. (2023). Heritable defects in telomere and mitotic function selectively predispose to sarcomas. Science. doi.org/10.1126/science.abj4784

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