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.