Sarcomas are rare cancers arising in bone, muscle, fat, or cartilage. Often occurring in children and young adults, sarcomas make up 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 new global research study has generated a comprehensive map of how the inheritance of genes may impact families affected by sarcoma. Published this week in the prestigious journal, Science*, the Australian-led research revealed that one in 14 individuals diagnosed with sarcoma carry a clinically important gene that explains why the cancer arose. In addition, the research team identified a previously unrecognised genetic pathway specific to sarcomas, opening up new cancer biology required to improve health outcomes.

Lead author of the paper, Dr Mandy Ballinger, Group Leader at the Garvan Institute of Medical Research and Conjoint Senior Lecturer at UNSW Medicine & Health, says “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.”

Jonathan Granek was diagnosed with a sarcoma at 26 years of age. Jonathan says “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, Head of the Genomic Cancer Medicine Laboratory at the Garvan Institute of Medical Research and Conjoint Professor at UNSW Medicine & Health, led the research study. Professor Thomas says “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, says “Why people develop these rare and devastating cancers has been a long-standing mystery. This paper fills in many missing pieces to the puzzle, which will change clinical practice.”

With an increased understanding of risk, patients (and their families) can be empowered to better understand and manage underlying risks, detect any tumour occurrences much earlier, and make better, and more personalised decisions about treatments that can lead to far better outcomes.

The research used data collected from the International Sarcoma Kindred Study (ISKS) and the Genetic Cancer Risk in the Young (RisC) studies. The ISKS, established in Australia in 2008, is the largest sarcoma genetic study in the world, including more than 3,500 families recruited from 23 cancer centres in seven countries. The research has been supported by Omico, NSW Office of Medical Research, National Health & Medical Research Council, Cancer Institute NSW, Cancer Australia, the Australian and New Zealand Sarcoma Alliance, the Liddy Shriver Sarcoma Initiative, and the Rainbows for Kate Foundation.