Article
Common variation at BARD1 results in the expression of an oncogenic isoform that influences neuroblastoma susceptibility and oncogenicity.
Cancer research - 15 Apr 2012
Bosse Kristopher R, Diskin Sharon J, Cole Kristina A, Wood Andrew C, Schnepp Robert W, Norris Geoffrey, Nguyen Le B, Jagannathan Jayanti, Laquaglia Michael, Winter Cynthia, Diamond Maura, Hou Cuiping, Attiyeh Edward F, Mosse Yael P, Pineros Vanessa, Dizin Eva, Zhang Yongqiang, Asgharzadeh Shahab, Seeger Robert C, Capasso Mario, Pawel Bruce R, Devoto Marcella, Hakonarson Hakon, Rappaport Eric F, Irminger-Finger Irmgard, Maris John M
Abstract excerpt
The mechanisms underlying genetic susceptibility at loci discovered by genome-wide association study (GWAS) approaches in human cancer remain largely undefined. In this study, we characterized the high-risk neuroblastoma association at the BRCA1-related locus, BARD1, showing that disease-associated variations correlate with increased expression of the oncogenically activated isoform, BARD1β. In neuroblastoma...
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