Associated Papers
Delving Into Retinoblastoma Genetics: Discovery of Novel Mutations and Their Clinical Impact: Retrospective Cohort Study.
Faranoush M et al.
Cancer Medicine, 2025
Tumor DNA sampling from aqueous humor in retinoblastoma - A report from South Asia.
Meel R et al.
Indian Journal of Ophthalmology, 2024
Prevalence of the cancer-associated germline variants in Russian adults and long-living individuals: using the ACMG recommendations and computational interpreters for pathogenicity assessment.
Gusakova M et al.
Frontiers in Oncology, 2024
39301547 (PubMed )
Supplement: DataSheet1.zip › Supplementary_Table_6.XLSX › 628_all_list_group_2
The clinical utility and costs of whole-genome sequencing to detect cancer susceptibility variants-a multi-site prospective cohort study.
Davidson AL et al.
Genome Medicine, 2023
37723522 (PubMed )
Supplement: 13073_2023_1223_MOESM1_ESM.xlsx › Table_S4
Germline RB1 Mutation in Retinoblastoma Patients: Detection Methods and Implication in Tumor Focality.
Rojanaporn D et al.
Translational Vision Science & Technology, 2022
36173648 (PubMed )
Supplement: tvst-11-9-30_s001.xlsx › Uni__germline__n__170
Challenges in reporting pathogenic/potentially pathogenic variants in 94 cancer predisposing genes - in pediatric patients screened with NGS panels.
Chirita-Emandi A et al.
Scientific Reports, 2020
31937788 (PubMed )
Supplement: 41598_2019_57080_MOESM2_ESM.xlsx › candidate_variants
Unexpected cancer-predisposition gene variants in Cowden syndrome and Bannayan-Riley-Ruvalcaba syndrome patients without underlying germline PTEN mutations.
Yehia L et al.
Plos Genetics, 2018
29684080 (PubMed )
Supplement: pgen.1007352.s008.xlsx › S7_Table
Unilateral retinoblastoma, lack of familial history and older age does not exclude germline RB1 gene mutation.
Brichard B et al.
European Journal of Cancer (oxford, England : 1990), 2006
Comprehensive screening for constitutional RB1 mutations by DHPLC and QMPSF.
Houdayer C et al.
Human Mutation, 2004
Sensitive and efficient detection of RB1 gene mutations enhances care for families with retinoblastoma.
Richter S et al.
American Journal of Human Genetics, 2003
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