This study identifies BARD1 germline variants associated with reduced BARD1 expression and DNA repair defects in neuroblastoma, showing haploinsufficiency and increased genomic instability.

JNCI Journal of the National Cancer Institute · Sep 8, 2023Peer-reviewedGenetics

OpenPBTA: An Open Pediatric Brain Tumor Atlas

Joshua A. Shapiro, Krutika Satish Gaonkar, Stephanie J. Spielman, Candace Savonen, Chanté J. Bethell, Run Jin, Komal S. Rathi, Yuankun Zhu, Laura E. Egolf, Bailey Farrow, Daniel P. Miller, Yang Yang, Tejaswi Koganti, Nighat Noureen, Mateusz Koptyra, , Jaclyn Taroni

OpenPBTA provides a collaborative platform to genomically characterize 1,074 pediatric brain tumors and 22 cell lines, offering analysis modules and somatic datasets for research and clinical applications.

Cell Genomics · May 31, 2023Peer-reviewedGenomics

Germline pathogenic variants in 786 neuroblastoma patients

Jung Kim, Zalman Vaksman, Laura E. Egolf, Rebecca Kaufman, Perry Evans, Karina L. Conkrite, Arnavaz Danesh, Gonzalo López, Michael P. Randall, Maiah H. Dent, Lance M. Farra, Neil Menghani, Malwina Dymek, Heena Desai, Ryan M. Hausler, , Sharon J. Diskin

This study identifies 13.9% of neuroblastoma patients with pathogenic germline variants in cancer predisposition genes, associated with worse survival and enriched in DNA repair genes like BARD1.

medRxiv · Jan 23, 2023 · PreprintGenetic & Genomic Medicine

Genomic profiling of childhood tumor patient-derived xenograft models to enable rational clinical trial design

Jo Lynne Rokita, Komal S. Rathi, Maria Cardenas, Kristen A. Upton, Joy C. Jayaseelan, Katherine L. Cross, Jacob Pfeil, Laura E. Egolf, Gregory P. Way, Alvin Farrel, Nathan M. Kendsersky, Khushbu Patel, Krutika Satish Gaonkar, Apexa Modi, Esther R. Berko, , John M. Maris

This paper genomically characterizes 261 pediatric cancer patient-derived xenograft models to guide rational clinical trial design and drug development.

Cell Reports · Nov 1, 2019Peer-reviewedGenomics