Mutations that cause esophageal adenocarcinoma (EA), have been mapped in unprecedented detail, which indicates that more than half of them could be a target for drugs that are currently in trials for other cancer types.
This study, published today in the journal Nature Genetics, may help to stratify patients with cancer of the esophagus, to give them a more personalized treatment. It can provide options that are currently available to patients in addition to standard chemotherapy, radiotherapy or surgery.
Researchers from the UK at the University of Cambridge have used whole-genome sequencing, and sequencing of the whole ekzom for mapping mutations in AP, the main subtype of esophageal cancer in England.
The study for the AP driver mutations were found in 99% of patients and 50% were sensitive to drugs (inhibitors of CDK4 / 6) are already in clinical trials for breast cancer. This means that in clinical trials phase II / III for the treatment of esophageal cancer can be implemented within one or two years.
Interestingly, women were more mutations in the KRAS, than men. These mutations are frequently observed in other types of cancer, but are rarely found in esophageal cancer. This may indicate a different subtype of the disease in women and suggest that they may have a different outlook or be eligible for other types of treatment.
Professor Rebecca Fitzgerald, a scholar and a leading cancer researcher in the UK, working in the field of cancer research, said: "This study could completely shift the paradigm of patients with cancer of the esophagus of the same chemotherapy, which, as we know, does not always work in a more targeted treatment based on individual characteristics of the patient's cancer. "
"Currently, we are developing clinical trials, which provide analysis of genes of patients in real time, to offer patients the best treatment based on their own genome."
"This study may also provide better options for older patients who have a greater chance of getting cancer of the esophagus, and are often not suited to current treatment options."
Only about 12% of patients undergoing esophageal cancer for 10 years or more. This is partly due to the late diagnosis because the symptoms often do not appear until the cancer is not progressing, and partly due to the limited treatment options. Scientists have found that more and more people fall ill with the AP in several Western European countries, including the UK - risk factors include obesity and smoking.
Professor Karen Vousden, chief researcher at the Cancer Research UK, said: "Such studies are crucial to improving treatment options and survival of patients suffering from difficult-to-treat cancers, such as esophageal cancer.
"Understanding which mutations cause disease, can lead to targeted treatment and early detection. It's something that never would have been possible without the tremendous progress in technology. "