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Whole-Genome Sequencing of Retinoblastoma Reveals the Diversity of Rearrangements Disrupting RB1 and Uncovers a Treatment-Related Mutational Signature.
Helen R Davies, Kevin D Broad, Zerrin Onadim, Elizabeth A Price, Xueqing Zou, Ibrahim Sheriff, Esin Kotiloğlu Karaa, Irene Scheimberg, M Ashwin Reddy, Mandeep S Sagoo, Shin-Ichi Ohnuma, Serena Nik-Zainal
Feb 17, 2021
The development of retinoblastoma is thought to require pathological genetic changes in both alleles of the RB1 gene. However, cases exist where RB1 mutations are undetectable, suggesting alternative pathways to malignancy. We...
Whole-Genome Sequencing of Retinoblastoma Reveals the Diversity of Rearrangements Disrupting RB1 and Uncovers a Treatment-Related Mutational Signature
Helen R. Davies, Kevin D. Broad, Zerrin Onadim, Elizabeth A. Price, Xueqing Zou, Ibrahim Sheriff, Esin Kotiloğlu Karaa, Irene Scheimberg, M. Ashwin Reddy, Mandeep S. Sagoo, Shin-Ichi Ohnuma, Serena Nik-Zainal
Feb 12, 2021
The development of retinoblastoma is thought to require pathological genetic changes in both alleles of the RB1 gene. However, cases exist where RB1 mutations are undetectable, suggesting alternative pathways to malignancy. We...