Article
Germline pathogenic variants in neuroblastoma patients are enriched in BARD1 and predict worse survival.
Journal of the National Cancer Institute - 10 Jan 2024
Kim Jung, Vaksman Zalman, Egolf Laura E, Kaufman Rebecca, Evans J Perry, Conkrite Karina L, Danesh Arnavaz, Lopez Gonzalo, Randall Michael P, Dent Maiah H, Farra Lance M, Menghani Neil L, Dymek Malwina, Desai Heena, Hausler Ryan, Hicks Belynda, Auvil Jaime Guidry, Gerhard Daniela S, Hakonarson Hakon, Maxwell Kara N, Cole Kristina A, Pugh Trevor J, Bosse Kristopher R, Khan Javed, Wei Jun S, Maris John M, Stewart Douglas R, Diskin Sharon J
Abstract excerpt
BACKGROUND: Neuroblastoma is an embryonal cancer of the developing sympathetic nervous system. The genetic contribution of rare pathogenic or likely pathogenic germline variants in patients without a family history remains unclear. METHODS: Germline DNA sequencing was performed on 786 neuroblastoma patients. The frequency of rare cancer predisposition gene pathogenic or likely pathogenic variants in patients was...
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