Genes linked to rare cancer affecting children and young adults uncovered

Sarcomas disproportionately affect the young, but researchers have discovered a host of genes linked to the cancers, raising hopes for better treatment

Scientists have uncovered a host of genes linked to a rare type of cancer that disproportionately affects children and young adults.

Sarcomas can develop in a range of tissues including muscle, bone, tendons and blood vessels. While they occur across all age groups, they make up 15% of all childhood cancers and more than 10% of cancers in those aged between 15 and 24.

While previous studies have highlighted a link between a handful of genes and an increased risk of sarcomas, the new research has flagged up many more, including links to mutations in genes such as BRCA2, which is known to be involved in the development of breast cancer.

Up until now we have had almost no idea about what causes [sarcomas], apart from one or two known hereditary syndromes, said Ian Judson, co-author of the research from the Institute of Cancer Research and The Royal Marsden. The hereditary nature of a substantial proportion of sarcomas has never been reported before, he added.

Judson believes the new research could lead to more tailored treatments for individuals. If we understand the mechanism by which the cancer arises we are going to be much better placed to find the right treatment, he said. The findings, he adds, could also open up new possibilities for testing and monitoring those at risk of developing sarcomas. The earlier you find it, the better the outlook, he said.

Published in The Lancet Oncology by an international team of scientists, the research involved 1,162 patients aged 15 or over, who had been diagnosed with sarcoma, and 6,545 healthy individuals. To explore possible genetic factors behind the disease, the researchers looked at the DNA of each sarcoma patient, examining 72 genes known to be linked to an increased risk of least one type of cancer.

The results reveal that 55% of the patients had a potentially harmful mutation in at least one of these genes, with just over 20% carrying more than one such genetic variant.

The research also revealed that carrying more than one of the potentially harmful mutations results in a higher likelihood of developing sarcoma at a younger age, with risk increasing with the number of mutations. That shows that genetic variants which by themselves only result in a small increase in the risk of sarcoma, can together boost the chances of developing cancer.

Judson believes the findings could change the way we view the hereditary side of cancers: the concept of so-called cancer-families. I think it may change the way we think about cancer and inheritance if we find this susceptibility link with multiple genes in other cancers [as well], he said.

Dr ine McCarthy, Cancer Research UKs senior science information officer, said the research was vital for improving treatments for sarcomas. By studying the DNA of more than 1,000 sarcoma patients this study gives us new information about the genetic changes that drive its development, she said. It also offers potential new ways to treat sarcomas by identifying genetic mistakes in the disease that can be targeted with drugs.

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