Associated Papers
Subset of retinoblastoma tumours is associated with BRCA1/2 mutations.
Kim YJ et al.
The British Journal of Ophthalmology, 2024
Genomic characterization reveals distinct mutation landscapes and therapeutic implications in neuroendocrine carcinomas of the gastrointestinal tract.
Wu H et al.
Cancer Communications (london, England), 2022
36264285 (PubMed )
Supplement: CAC2-42-1367-s002.xlsx › Supplementary_Table_S3
Germline RB1 Mutation in Retinoblastoma Patients: Detection Methods and Implication in Tumor Focality.
Rojanaporn D et al.
Translational Vision Science & Technology, 2022
Mosaicism in Tumor Suppressor Gene Syndromes: Prevalence, Diagnostic Strategies, and Transmission Risk.
Chen JL et al.
Annual Review of Genomics and Human Genetics, 2022
36044908 (PubMed )
Supplement: gg23-giannikou_suptable1.xlsx › RB1
Mutational signatures reveal the dynamic interplay of risk factors and cellular processes during liver tumorigenesis.
Letouzé E et al.
Nature Communications, 2017
29101368 (PubMed )
Supplement: 41467_2017_1358_MOESM5_ESM.pdf
A comprehensive, sensitive and economical approach for the detection of mutations in the RB1 gene in retinoblastoma.
Parsam VL et al.
Journal of Genetics, 2009
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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