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Saturday, 22 September, 2001, 23:35 GMT 00:35 UK
Family may hold genetic cancer clue
Doctors are looking for the genetic cause of the family's rare cancer history
Doctors are looking for the genetic cause of the family's rare cancer history
One family could hold the genetic key to a rare cancer, scientists believe.

Cancer Research Campaign scientists are going to study a Liverpool family who have lost 21 members over five generations to cancer of the oesophagus, or food pipe.

All carry a faulty gene that is also linked to a mild skin disorder called tylosis.

Tylosis is a relatively common condition, but to inherit the connection with oesophageal cancer is very rare.

Once we've isolated the gene, the next step will be to understand how it works and what has gone wrong in this particular family

Professor John Field, Liverpool University
The search for the genetic cause began 10 years ago.

Tylosis runs in families, allowing scientists to make the link between the disease and cancer of the oesophagus.

Experts believe that if they can isolate the gene responsible, they will have taken a significant step forward in the understanding of oesophageal cancer.

That could mean better diagnosis and new treatments, not just for this family, but for everyone with the cancer.

Oesophageal cancer is the fifth most common cause of cancer death in the UK, killing around 7,000 people each year. Survival rates are poor.

It is more common in men, and smoking and excessive alcohol consumption are the main risk factors.


The Liverpool team are now working on a small region of chromosome 17, which could contain about 50 genes.

Professor John Field and Dr Janet Risk from Liverpool University have been studying more than 350 members of the extended Liverpool family.

Members of the family with tylosis go for a check up once a year where doctors use a tiny camera to examine the tissue along the patient's oesophagus.

They also take biopsies, so any changes can be found early.

Dr Risk said: "We know the cause of death of 32 members of this family and 21 of them were from oesophageal cancer - that's two thirds.

"Apart from the Liverpool family we know of only one other large family with this kind of history - in the United States - and a smaller one in Germany."

Professor Field said: "Finding the gene will be very exciting - a real breakthrough. We're now getting close, and have narrowed down our hunt for the Tylosis oesophageal cancer gene to a very small region of chromosome 17.

"Once we've isolated the gene, the next step will be to understand how it works and what has gone wrong in this particular family. In the longer term this will have implications for treating other cases of oesophageal cancer."

Dr Lesley Walker, Director of Cancer Information for The Cancer Research Campaign, says: "Cancer of the oesophagus is particularly distressing and the outlook for patients is currently poor, often because the disease is far advanced by the time it's diagnosed.

"Finding the tylosis gene will increase our understanding of this inherited cancer, and bring us closer to developing more effective ways of detecting and treating the disease."

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