Single Gene Mutation Linked To Throat Cancer Uncovered
By Anusuya Das | Health & Medicine
March 12, 2012
An international team of researchers has identified a specific gene linked to throat cancer following a genetic study of a family with ten members who all developed the condition.
AsianScientist (Mar. 12, 2012) – An international team from the U.S., U.K., and Japan has identified a specific gene linked to throat cancer following a genetic study of a family with ten members who all developed the condition.
The study, published recently 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.
Scientists carried out a genome-wide linkage study in an American 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.
The team took blood samples from 13 members of the affected family, as well as samples from 13 unaffected people. After analyzing these samples they found a single mutation in ATR that was present in all the people with the condition. But none of the unaffected people had that specific mutation. Ten of the 13 people with the condition had developed throat cancer.
“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 we can use rare conditions to give us insight into more common diseases,” said Professor John McGrath from the King’s College London Genetic Skin Disease Group.
“Key known risk factors for developing throat cancer include consumption of alcohol and tobacco as well as viral infections such as HPV (human papilloma virus). But this is the first evidence connecting abnormalities in the ATR gene with susceptibility to this type of cancer,” McGrath said.
The researchers say that this finding raises new ideas about genetic factors linked to throat cancer and provides a platform for exploring the role of ATR in cancer biology. McGrath says that the team now plans to investigate the cancer pathways in more detail to try to find new treatments for throat cancer.
The article can be found at: Tanaka A et al. (2012) Germline Mutation in ATR in Autosomal- Dominant Oropharyngeal Cancer Syndrome.
Source: King’s College London.
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