Loss of RB1 induces non-proliferative retinoma: increasing genomic instability correlates with progression to retinoblastoma
Retinoblastoma clinical observations revealed the role of tumor suppressor genes in human
cancer, Knudson's 'two-hit'model of cancer induction. We now demonstrate that loss of both …
cancer, Knudson's 'two-hit'model of cancer induction. We now demonstrate that loss of both …
Retinoblastoma
Retinoblastoma is a rare cancer of the infant retina that is diagnosed in approximately 8,000
children each year worldwide. It forms when both retinoblastoma gene (RB1) alleles are …
children each year worldwide. It forms when both retinoblastoma gene (RB1) alleles are …
Next-generation sequencing of retinoblastoma identifies pathogenic alterations beyond RB1 inactivation that correlate with aggressive histopathologic features
AR Afshar, M Pekmezci, MM Bloomer, NJ Cadenas… - Ophthalmology, 2020 - Elsevier
Purpose To determine the usefulness of a comprehensive, targeted-capture next-generation
sequencing (NGS) assay for the clinical management of children undergoing enucleation for …
sequencing (NGS) assay for the clinical management of children undergoing enucleation for …
Characterisation of retinoblastomas without RB1 mutations: genomic, gene expression, and clinical studies
DE Rushlow, BM Mol, JY Kennett, S Yee… - The lancet …, 2013 - thelancet.com
Background Retinoblastoma is the childhood retinal cancer that defined tumour-suppressor
genes. Previous work shows that mutation of both alleles of the RB1 retinoblastoma …
genes. Previous work shows that mutation of both alleles of the RB1 retinoblastoma …
Understanding pRb: toward the necessary development of targeted treatments for retinoblastoma
UM Sachdeva, JM O'Brien - The Journal of clinical …, 2012 - Am Soc Clin Investig
Retinoblastoma is a pediatric retinal tumor initiated by biallelic inactivation of the
retinoblastoma gene (RB1). RB1 was the first identified tumor suppressor gene and has …
retinoblastoma gene (RB1). RB1 was the first identified tumor suppressor gene and has …
Molecular Changes in Retinoblastoma beyond RB1: Findings from Next-Generation Sequencing
JH Francis, AL Richards, DL Mandelker, MF Berger… - Cancers, 2021 - mdpi.com
Simple Summary The gene causing retinoblastoma was the first tumor suppressor cloned
(1986) and because retinoblastoma is the classic example of autosomal dominant …
(1986) and because retinoblastoma is the classic example of autosomal dominant …
The retinoblastoma gene: a prototypic and multifunctional tumor suppressor
L Zheng, WH Lee - Experimental cell research, 2001 - Elsevier
Genome instability has been implicated in the generation of multiple somatic mutations that
underlie cancer. Germline mutation in the retinoblastoma (RB) gene leads to tumor …
underlie cancer. Germline mutation in the retinoblastoma (RB) gene leads to tumor …
Overview of RB gene mutations in patients with retinoblastoma: implications for clinical genetic screening
JW Harbour - Ophthalmology, 1998 - Elsevier
OBJECTIVE: This study aimed to determine the distribution of germline mutations in the
retinoblastoma (RB) gene in patients with retinoblastoma to design more effective genetic …
retinoblastoma (RB) gene in patients with retinoblastoma to design more effective genetic …
Compensation by tumor suppressor genes during retinal development in mice and humans
SL Donovan, B Schweers, R Martins, D Johnson… - BMC biology, 2006 - Springer
Background The RB1 gene was the first tumor suppressor gene cloned from humans by
studying genetic lesions in families with retinoblastoma. Children who inherit one defective …
studying genetic lesions in families with retinoblastoma. Children who inherit one defective …
Spectrum of gross deletions and insertions in the RB1 gene in patients with retinoblastoma and association with phenotypic expression
P Albrecht, B Ansperger‐Rescher, A Schüler… - Human …, 2005 - Wiley Online Library
Quantitative multiplex PCR and genomic real‐time PCR were used to complete an RB1
mutation analysis in 57 of 433 and 72 of 262 patients with hereditary and isolated unilateral …
mutation analysis in 57 of 433 and 72 of 262 patients with hereditary and isolated unilateral …