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Whole Exome Sequencing Seeks Out Adenoid Cystic Carcinoma

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

In this issue of the Journal of Clinical Investigation, researchers led by at the 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, , of the University of Virginia emphasizes that identifying individual mutations will aid the development of personalized therapy.

TITLE: Whole exome sequencing of adenoid cystic carcinoma


ACCOMPANYING COMMENTARY TITLE: Mutation signature of adenoid cystic carcinoma: evidence for transcriptional and epigenetic reprogramming



Journal of Clinical Investigation