ETV6 and Childhood ALL Predisposition

Background

Dr. Jun Yang's laboratory at St. Jude Children's Research Hospital has recently identified a panel of rare genetic variants in ETV6, some of which strongly influence familial predisposition to acute lymphoblastic leukemia (ALL), the most common type of childhood cancer. While Dr. Yang's findings point to ETV6 as a critical ALL risk gene, the exact effects of each genetic variant on leukemia predisposition are unclear and there is an urgent need to determine the functional consequences of these alleles in the context of leukemogenesis.

The project will experimentally examine 35 suspected ALL risk variants in the ETV6 gene, using a wide array of laboratory techniques of varying complexity, such as: transcriptional repressor and reporter assays, electrophoretic mobility shift assay, subcellular localization using fluorescence microscopy and whole genome sequencing of affected ALL cases.

Project Goal

The study will provide a functional assessment of the ETV6 variants and assist in the determination of whether it is likely that each variant is pathological.