A new throat cancer gene discovered

Investigators from the King’s College London, England, and Hiroshima University, Japan, have identified a specific gene that is linked to throat cancer in a genetic study of a family with ten members who have developed this type of cancer.

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. The ATR (ataxia telangiectasia and Rad3 related) gene encodes a protein critical to the way cells repair their DNA. This finding illustrates the presence of genetic factors linked to throat cancer and encourages further exploration the role of ATR in other types in cancer.

Researchers performed a genome-wide linkage study in a 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. Nearly every person with the condition involved in the study had developed throat cancer (oropharyngeal squamous cell carcinoma) in their 20s or 30s. They uncovered a single mutation in ATR  in all the individuals  with the condition and in none of the unaffected people. Ten of the 13 people with this mutation had developed throat cancer.