Article
A Rapid and Sensitive Next-Generation Sequencing Method to Detect RB1 Mutations Improves Care for Retinoblastoma Patients and Their Families.
The Journal of molecular diagnostics : JMD - 1 Jul 2016
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
Abstract excerpt
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 blood samples or either somatic RB1 mutation or MYCN amplification in tumors is important for effective care and...
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