Oesophageal Cancer Gene Found

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Main Category: Cancer / Oncology
Also Included In: GastroIntestinal / Gastroenterology;  Genetics
Article Date: 19 Jan 2012 - 11:00 PST

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UK researchers have found a gene that plays an important part in the development of oesophageal cancer or cancer of the gullet. They announced their news to the press on Thursday.

Every year, more than 8,000 people in the UK discover they have oesophageal cancer, and the rates are going up. The disease is more common in the UK than other European countries.

The chances of surviving oesophageal cancer are very slim: only 8% of patients are alive more than 5 years after diagnosis.

Unfortunately, scientists know little about how the cancer develops, and there are very few treatments available.

Professor David Kelsell from Barts and the London Medical School, Queen Mary, University of London and colleagues from the University of Dundee and the University of Liverpool, studied three families who suffer from a rare heriditary condition called tylosis with oesophageal cancer.

They hope that what they found could help develop drugs that target less rare, non-heriditary forms of oesophageal cancer as well.

People with the condition have thickening of the skin (hyperkeratosis) on the palms of the hands and the soles of the feet, white patches in the mouth (oral leukoplakia) and a 95% chance of developing oesophageal cancer by the age of 65.

Kelsell and colleagues found that all three families carry a faulty version of the RHBDF2 gene.

Experiments revealed that RHBDF2 helps determine how cells in the skin, and cells that line the oesophagus, respond to injury. When a wound occurs in these places, and new cells are formed to heal it, the normal version of the gene keeps cell growth under control.

But, the researchers found the gene malfunctions in cells from tylosis patients and in cells from oesophageal cancers, allowing them to divide and grow uncontrollably, and lead to cancer.

Kelsell said:

"In studying this relatively rare condition, we have made an important discovery about a cancer that is all too common. Finding a genetic cause for this aggressive cancer, and understanding what that gene is doing, is an enormous step forward."


He and his colleagues think perhaps RHBDF2 plays a role in the less rare, non-inherited forms of oesophageal cancer, offering a new target for treatments.

Analyzing the complex biology behind a particular type of cancer helps us begin to know which treatments might work and which might not, he added.

The statement did not mention if the study is published in a journal.

Written by Catharine Paddock PhD
Copyright: Medical News Today
Not to be reproduced without permission of Medical News Today

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