Posted on Wednesday 4th April 2012
Researchers from the King’s College London Genetic Skin Disease Group at St John’s Institute of Dermatology, together with Hiroshima University in Japan, have identified a specific gene linked to throat cancer following a genetic study of a family with 10 members who have developed the condition.
The study, recently published in the American Journal of Human Genetics, uncovered a mutation in the ATR gene, demonstrating the first evidence of a link between abnormality in this gene and an inherited form of cancer. This finding raises new ideas about genetic factors linked to throat cancer and provides a basis for exploring the role of ATR more generally in cancer biology.
Scientists carried out a genome-wide linkage study in a US family with an unusual hereditary condition affecting 24 members of the family over five generations. Characteristics include developmental abnormalities of hair, teeth and nails as well as dilated skin blood vessels. Strikingly, nearly every person with the condition involved in the study had developed throat cancer (oropharyngeal squamous cell carcinoma) in their 20s or 30s.
“This is an intriguing study that not only provides a genetic explanation for an unusual syndrome, but also provides a unique novel insight into how the ATR gene may be associated with a specific form of cancer. It is a classic example of how we can use rare conditions to give us insight into more common diseases,” said Professor John McGrath from the Genetic Skin Disease Group.
“Key known risk factors for developing throat cancer include alcohol consumption and smoking as well as certain viral infections. But this is the first evidence connecting abnormalities in the ATR gene with susceptibility to this type of cancer. ATR encodes a protein critical to the way cells repair their DNA, and is therefore a vital mechanism. We plan to investigate the cancer pathways in more detail to try to find new treatments.”
Read the press release for more information.