A Rapid and Sensitive Next-Generation Sequencing Method to Detect RB1 Mutations Improves Care for Retinoblastoma Patients and Their Families

Retinoblastoma is a childhood eye malignancy that can lead to the loss of vision, eye(s), and sometimes life. The tumors are initiated by inactivating mutations in both alleles of the tumor-suppressor gene, RB1 , or, rarely, by MYCN amplification. Timely identification of a germline RB1 mutation in...

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Veröffentlicht in:	The Journal of molecular diagnostics : JMD 2016-07, Vol.18 (4), p.480-493
Hauptverfasser:	Li, Wenhui L, Buckley, Jonathan, Sanchez-Lara, Pedro A, Maglinte, Dennis T, Viduetsky, Lucy, Tatarinova, Tatiana V, Aparicio, Jennifer G, Kim, Jonathan W, Au, Margaret, Ostrow, Dejerianne, Lee, Thomas C, O'Gorman, Maurice, Judkins, Alexander, Cobrinik, David, Triche, Timothy J
Format:	Artikel
Sprache:	eng
Schlagworte:	Alleles DNA Copy Number Variations DNA Mutational Analysis - methods Exons Gene Deletion Gene Duplication Genes, Retinoblastoma High-Throughput Nucleotide Sequencing Humans Mosaicism Mutation Pathology Promoter Regions, Genetic Retinoblastoma - diagnosis Retinoblastoma - genetics
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