One Neck of a Gene

Throat cancer gene identified

/ Author:  / Reviewed by: Joseph V. Madia, MD

(RxWiki News) Drinking too much alcohol, smoking too much tobacco and now being infected with the human papillomavirus (HPV) are known risk factors for throat cancer. A newly identified gene also plays a role.

Researchers on two continents have pinpointed a gene that's linked to throat cancer. It's called the ATR gene.

"If you ever experience difficulty swallowing, get it checked out."

The collaborative effort of investigators at King's College London and Hiroshima University, Japan, zeroed in on ATR following a genetic study of 10 family members who had throat cancer.

Researchers say this discovery adds to the knowledge base about genetic factors associated with throat cancer. 

This finding may also have uncovered the potential connection ATR has to other types of cancers.

The study involved analyzing the DNA of 24 members of five generations of an American family with an uncommon hereditary condition that caused abnormal development of the teeth, hair and nails, along with dilated blood vessels in the skin.

Almost all family members who had this condition went on to develop oropharyngeal squamous cell carcinoma (throat cancer) in young adulthood (20s or 30s).

Researchers examined blood samples from two groups of 13 people with and without the condition. Every person with the condition had a mutation in the ATR, while none of the unaffected people did.

Researcher 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, said, "It is a classic example of how we can use rare conditions to give us insight into more common diseases."

Additional study of the cancer pathways is planned with the intention of finding new treatments.

The study was published March 1, 2012 in American Journal of Human Genetics.

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Review Date: 
March 13, 2012
Last Updated:
May 6, 2013