Unlike more common cancers like breast, ovarian or colon cancers, the genetic causes of sarcoma have remained largely mysterious, apart from a few specific subtypes. Understanding these genetic causes is crucial because it could help doctors identify who is at risk and determine the most effective treatments. 

An international team of researchers studied the genes of 1,162 sarcoma patients from multiple countries and compared them to people without cancer. They focused on 72 genes known to be associated with cancer risk.  

Beyond just looking at genes, they gathered detailed family histories and analysed how different genetic changes might work together to increase cancer risk. 

The study revealed important new insights into the genetic causes of sarcoma. The researchers found that more than half of sarcoma patients had genetic variations that could have contributed to their cancer developing. While some patients had a change in just one gene, many had multiple genetic changes working together – and these patients often developed cancer at a younger age. 

Importantly, having a family history of cancer wasn’t always a reliable way to identify who might have genetic risk. Some patients with significant genetic changes had no family history at all, suggesting that current ways of deciding who needs genetic testing may be missing people who could benefit from it. 

The researchers also discovered that certain genetic changes might help predict which treatments would work best for different patients. For example, patients with changes in a gene called ERCC2 might respond particularly well to certain chemotherapy drugs. 

Perhaps most importantly for current patients, understanding individual genetic changes could help develop more personalised treatments. For example, some genetic changes might indicate whether certain chemotherapy or targeted drugs would work particularly well, or whether someone might be especially sensitive to radiation therapy. This could lead to new clinical trials testing treatments targeted at specific genetic changes.  

 While this specific type of detailed genetic testing isn’t routinely available on the NHS yet, the findings suggest that it could be valuable for many more sarcoma patients than currently receive it, and this research could help shape future testing services.  

For now, if you have sarcoma, you can discuss any concerns about genetic risk with your medical team, particularly if you developed cancer at a young age or have a family history of cancer. Some patients may be referred to genetic services based on their individual circumstances. 

The immediate next step is for cancer specialists to work with genetics experts to decide which sarcoma patients should be offered genetic testing. They’ll need to establish clear guidelines about this, considering factors beyond just family history. 

The researchers also need to better understand how multiple genetic changes work together to cause sarcoma. This could help explain why some people develop these cancers at a young age and potentially lead to new ways to identify people at risk. 

While this research is promising, it will take time to translate into routine NHS care. The key is to ensure that when genetic testing becomes more widely available, there are clear systems in place to help patients and their families make use of this information.