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Lab Reports
May 5, 2015

Germline Gene Mutation May Increase Leukemia Risk

JAMA. 2015;313(17):1703. doi:10.1001/jama.2015.4098

Newly discovered mutations in the ETV6 gene, which is thought to play an important role in blood cell development, are associated with an increased risk of developing acute lymphoblastic leukemia (ALL), according to a recent study (Noetzli L et al. Nat Genet. doi:10.1038/ng.3253 [published online March 25, 2015]). ETV6 encodes a transcriptional repressor initially identified as a tumor suppressor.

The mutations were discovered when an international team of investigators conducted whole-exome sequencing to analyze each protein-producing gene in members of a family with an abnormally high rate of ALL. An additional screen of 23 families with elevated rates of ALL identified 2 with ETV6 mutations.