Collaboration reveals gene mutation link to head and neck cancer

In collaboration with the Press Association

Experts in the United States have collaborated to uncover a link between head and neck cancer and mutations in a family of genes.

Head and neck cancer is a term used for tumours found in the throat area, and includes cancer of the mouth, nasal passages, and voicebox.

Professor Jennifer R Grandis, of the University of Pittsburgh School of Medicine, and Dr Levi A Garraway, a senior associate member of the Broad Institute, sequenced whole 'exomes' in order to study tumour samples collected by the facility. Exomes are a small part of a cell's genetic code that provide the blueprint to create proteins, some of which are involved in cancer growth.

Using this method, the pair were able to identify mutations in a gene called p53 in more than half of the tumours studied - faults in this gene have been linked to many types of cancer.

More surprisingly they also found that around 15 per cent of the tumour samples had mutations in the NOTCH1 gene - effectively turning the gene off. This was unexpected as previous work linking NOTCH to other cancers, such as leukaemia, found that these diseases can be triggered by changes causing NOTCH to be overactive.

The pair released their findings in the journal Science at the same time as experts from Johns Hopkins, MD Anderson, and Baylor College of Medicine published research on head and neck cancer in the same journal.

Research from the second team corroborated the findings, showing mutations in p53 and in NOTCH1.

Kenneth W Kinzler, professor of oncology and a molecular geneticist at Johns Hopkins, said: "Our study suggests that a gene's role can depend on the tumour type. In some cases, a gene can act as a growth promoter in cancer, and in other cases, such as head and neck cancer, the same gene behaves as a growth suppressor."

Both teams believe more work needs to be done before results can be used to develop treatments to combat the disease.

Nell Barrie, senior science information officer at Cancer Research UK, said "Thanks to new technologies we're learning more than ever before about the genetic changes behind cancer, and these studies add another piece to the puzzle. Work like this will give vital clues for new ways to tackle head and neck cancer by helping us to understand the faults that drive the disease."

Copyright Press Association 2011


Stransky, N. et al (2011). The Mutational Landscape of Head and Neck Squamous Cell Carcinoma Science DOI: 10.1126/science.1208130

Agrawal, N. et al(2011). Exome Sequencing of Head and Neck Squamous Cell Carcinoma Reveals Inactivating Mutations in NOTCH1 Science DOI: 10.1126/science.1206923