A recent study by Alexander Frankell, from Rebecca Fitzgerald’s group (MRC Cancer Unit), used scans from Oesophageal Adenocarcinoma (EAC) samples alongside matched RNA sequencing data to provides an exhaustive catalogue of mutations and copy number alterations, that are selected for in EAC, which could have clinically relevant impact on the prognosis of the disease.
 
EAC is the main subtype of oesophageal cancer in the UK and is on the rise in western countries, mainly because of lifestyle factors. Only around 12% of patients survive oesophageal cancer for ten years or more. This is partly due to late diagnosis, with symptoms often not presenting until the cancer is advanced and partly due to limited treatment options.
 
Published in Nature Genetics the study reveals driver mutations for EAC in 99% of patients and that more than half of the mutations (mainly related to Receptor Tyrosine kinases and or Cell Cycle proteins) could be targeted by drugs currently in trials for other cancer types, such as the CDK4/6 inhibitors already approved for breast cancer.
 
This research could help stratify oesophageal cancer patients to give them more personalised therapies, providing options not currently available to patients beyond standard chemotherapy, radiotherapy or surgery.