Scouring the genome of adenoid cystic carcinoma

Adenoid cystic carcinoma (ACC) is a slow-growing and often fatal malignancy that can occur at multiple organ site, but is most frequently found in the salivary glands. The primary treatment is surgical removal; however, the majority of patients develop metastatic disease.

In this issue of the Journal of Clinical Investigation, researchers led by Andrew Futreal at the Wellcome Trust Sanger Institute in Cambridge, MA, performed a type of genetic sequencing known as whole exome sequencing of 24 ACC cases. They identified a genetic translocation that can precipitate disease and determined that a large number of disease-associated mutations occurred in genes that modify DNA.

In the accompanying commentary, Henry Frierson, Jr. of the University of Virginia emphasizes that identifying individual mutations will aid the development of personalized therapy.

More information: Whole exome sequencing of adenoid cystic carcinoma, J Clin Invest. doi:10.1172/JCI67201
Mutation signature of adenoid cystic carcinoma: evidence for transcriptional and epigenetic reprogramming, J. Clin. Invest. doi:10.1172/JCI69070

Related Stories

Inactive genes surprisingly common in humans

date Feb 16, 2012

(Medical Xpress) -- Every person carries on average 100 variants that disable genes - yet very few suffer ill effects, an international team of researchers led by Yale University and Wellcome Trust Sanger ...

Recommended for you

A new era for genetic interpretation

date 17 hours ago

Millions of genetic variants have been discovered over the last 25 years, but interpreting the clinical impact of the differences in a person's genome remains a major bottleneck in genomic medicine. In a paper published in ...

User comments

Please sign in to add a comment. Registration is free, and takes less than a minute. Read more

Click here to reset your password.
Sign in to get notified via email when new comments are made.