Identification of novel RB1 genetic variants in Retinoblastoma patients and their impact on clinical outcome.

doi:10.1080/13816810.2021.1989602

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Article

Identification of novel RB1 genetic variants in Retinoblastoma patients and their impact on clinical outcome.

Ophthalmic genetics - 1 Feb 2022

Manukonda Radhika, Pujar Akhilesh, Ramappa George, Vemuganti Geeta K, Kaliki Swathi

Abstract excerpt

BACKGROUND: Retinoblastoma (RB) is an intraocular childhood cancer develops due to inactivation of RB1 gene. Identification of RB1 genetic variants, correlating and confirming genetic test results with clinical outcomes are crucial for effective RB management. METHODS: Retrospective study of 62 RB patients and 14 family members who underwent genetic testing either by next generation sequencing (NGS) or multiplex...

Topics

Child
DNA Mutational Analysis
Exons
Genes, Retinoblastoma
Humans
Mutation
Neoplasm Recurrence, Local
Retinal Neoplasms
Retinoblastoma
Retinoblastoma Binding Proteins
Retrospective Studies
Ubiquitin-Protein Ligases

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PMID: 34645364
DOI: 10.1080/13816810.2021.1989602

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