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Scientists reveal new insights in the development of oesophageal cancer

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by Cancer Research UK | News

13 October 2013

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Cancer Research UK scientists show today that while inherited faulty genes can increase the risk of Barrett’s Oesophagus – a condition linked to acid reflux – it may be  lifestyle factors such as smoking and obesity that cause it to develop into oesophageal cancer – according to a major study published in Nature Genetics.

Cancer Research UK scientists, as part of a consortium, compared the genetic make-up of patients with oesophageal cancer (adenocarcinoma) and patients with Barrett’s Oesophagus with healthy patients by studying thousands of tissue samples from several large studies. Barrett’s is treatable but changes in the oesophagus can sometimes develop into cancer.

The team discovered an overlap between the genetic fingerprint of Barrett’s Oesophagus and oesophageal cancer. One gene called FOXP1 in particular was found to be faulty in both conditions.

FOXP1 controls oesophageal development and the research suggests that faulty versions of this gene trigger changes which cause Barrett’s Oesophagus. Most patients with Barrett’s Oesophagus can be successfully treated but in some cases the disease can develop into cancer.

Professor Rebecca Fitzgerald, Cancer Research UK and Medical Research Council scientist at the University of Cambridge and one of the study authors, said: “This research suggests the reason some patients with Barrett’s Oesophagus go on to develop oesophageal cancer isn’t purely genetic but may also be related to lifestyle or environmental factors which can be managed.”

“Much more research is needed to confirm these very early findings and this study doesn’t address those rare cases of inherited oesophageal cancer which are caused by genetic faults and not by lifestyle.”

There are two main types of oesophageal cancer, adenocarcinoma and squamous cell carcinomas. Obesity, tobacco and long term acid reflux increase the risk of adenocarcinoma, while tobacco and alcohol are the most common risk factors for squamous cell carcinoma.
Oesophageal cancer is the ninth most common cancer in the UK with around 8,500 new cases diagnosed each year and around 7,600 deaths. It is not known how many cases of cancer are caused by genetic faults –but most cases of the disease are believed to be caused by a combination of lifestyle and genetic changes.

Dr Julie Sharp, Cancer Research UK’s senior science information manager, said: “Sadly survival for oesophageal cancer remains low but studies like this help paint a picture of how the disease develops –so we can find new ways to stop it in its tracks.”

“We know that lifestyle plays an important role in this disease – by understanding more about the role of both genes and lifestyle we can find better ways to prevent oesophageal cancer and save more lives in the future.”


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A genome-wide association study identifies new susceptibility loci for oesophageal adenocarcinoma and Barrett’s Oesophagus. Nature Genetics. Vaughan et al.