Page URL:

Gene link to oesophageal cancer

23 January 2012
Appeared in BioNews 641

The gene causing a skin disorder which predisposes to oesophageal cancer has been identified.

More than nine out of ten people with tylosis, which causes thickening of the skin on the palms and soles, will develop oesophageal cancer before the age of 65, but until now the reason for this was obscure.

The research, published in the American Journal of Genetics, looked at the genetic sequences of three families with a history of tylosis. Those family members diagnosed with the disease were shown to carry a faulty version of the RHBDF2 gene.

Further experiments indicated that this gene plays an important role in how cells that line the oesophagus, and cells in the skin, respond to injury. When the gene malfunctions it allows the cells to divide and grow uncontrollably, leading to cancer.

Professor David Kelsell of Queen Mary University of London, UK, who led the study, said that the discovery would help scientists and clinicians 'begin to understand which treatments might be effective and also which treatments are unlikely to help'.

Talking to Cancer Research UK, Dr Rebecca Fitzgerald, an expert in oesophageal cancer based at the Cambridge Cancer Centre, who was not involved in the research, commented: 'This study is an excellent example of how careful genetic analysis of families with rare conditions linked to cancer can lead to broader insights into a disease. We've known generally what part of the chromosome is involved in tylosis for some time, but it's taken until now to pin down the exact gene'.

Whether the RHBDF2 gene is involved in other, non-inherited forms of oesophageal forms of cancer is not yet known.

Currently, more than 8,000 people are affected by esophageal cancer a year in the UK, higher than any other European country, and the incidence is increasing. Treatment options are limited and survival rates are low at only eight percent five years after diagnosis. Oesophageal cancer is the sixth leading cause of cancer-related deaths worldwide.

Gene offers clue to cause of oesophageal cancer
Cancer Research UK |  19 January 2012
Gene role in gullet cancer studied
Press Association |  19 January 2012
High risk oesophageal cancer gene discovered
EurekAlert! |  19 January 2012
Queen Mary scientists find faulty gene causing rare oesophageal cancer
Docklands and East London Advertiser |  19 January 2012
RHBDF2 Mutations Are Associated with Tylosis, a Familial Esophageal Cancer Syndrome
The American Journal of Human Genetics |  19 January 2012
14 September 2020 - by Dr Joanne Delange 
A statistical model that uses genomic data to calculate which patients are most likely to develop oesophageal cancer eight years before diagnosis has been developed...
16 January 2012 - by Dr Linda Wijlaars 
A rare gene variant that could increase the risk of prostate cancer has been identified by researchers in the USA. Although the variant accounts for only a small fraction of all prostate cancers, the study found it was more common in men with an inherited form of the cancer and in those who are diagnosed before the age of 55...
15 August 2011 - by Dr Maria Teresa Esposito 
Scientists have discovered a rare genetic fault that raises a woman's risk of developing ovarian cancer six-fold. It has been hailed as the most important discovery in the field in the last ten years, and offers hope for new treatments...
14 March 2011 - by Dr Sarah Spain 
An international collaborative team, including Cancer Research UK scientists from the University of Dundee, has uncovered the genetic cause of a rare type of skin cancer. The condition called Ferguson-Smith disease, is also known as multiple self-healing squamous epithelioma (MSSE)...
2 June 2008 - by Dr Rebecca Robey 
An international team of scientists has found that the genes that help the body break down alcohol also influence a person's risk of developing cancers of the mouth, throat and oesophagus. The study, published in the journal Nature Genetics, looked at six variants of the alcohol dehydrogenase...
to add a Comment.

By posting a comment you agree to abide by the BioNews terms and conditions

Syndicate this story - click here to enquire about using this story.