New germline mutation uncovered in autosomal dominant oropharyngeal cancer syndrome
First evidence of a link between abnormality in ATR gene and an inherited form of cancer
- Date : 14 Mar 2012
- Topic : Head and neck cancers
Researchers at King's College London and Hiroshima University, Japan, have identified a specific gene linked to oropharyngeal cancer syndrome following a genetic study of a family with 10 members who have developed the condition. The study, published on 8 March in 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 oropharyngeal cancer and provides a platform for exploring the role of ATR more generally in cancer biology.
A genome-wide linkage study
Scientists carried out a genome-wide linkage study in a USA 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 oropharyngeal squamous cell carcinoma in their 20s or 30s.
The team took blood samples from 13 members of the affected family, as well as samples from 13 unaffected people. After analysing these samples they found a single mutation in ATR was present in all the people with the condition, but none of the unaffected people had the mutation. Ten of the 13 people with the condition had developed oropharyngeal cancer.
ATR encodes a protein critical to DNA repair
According to Professor John McGrath from the King's College London Genetic Skin Disease Group at St John's Institute of Dermatology, based at Guy's Hospital this is an intriguing study which 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 rare conditions can be used to give insight into more common diseases.
Key known risk factors for developing oropharyngeal cancer include consumption of alcohol and tobacco as well as viral infections such as HPV (humanpapilloma virus). 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. Researchers now plan to investigate the cancer pathways in more detail to try to find new treatments.
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