ArticleFamilial cancer2012
RB1 mutations and second primary malignancies after hereditary retinoblastoma.
Article in Familial cancer, 2012. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 27 papers, 1 of them a synthesis that pooled it.
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
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Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
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Who cites it
27 citing papers in PubMed, 1 synthesis or guideline pooled it, 68 citations in OpenAlex.
- Incidence of second primary cancers in patients with retinoblastoma: a systematic review and meta-analysis.Frontiers in oncology · 2024Pooled it
- Post-translational modifications in retinoblastoma: mechanisms, immune regulation, and therapeutic opportunities.Frontiers in immunology · 2026Review
- Genetics of Retinoblastoma: An Overview and Significance of Genetic Testing in Clinical Practice.Genes · 2025Review
- Delving Into Retinoblastoma Genetics: Discovery of Novel Mutations and Their Clinical Impact: Retrospective Cohort Study.Cancer medicine · 2025Article
- Second Primary Malignant Neoplasms in Survivors of Retinoblastoma in a Single Ocular Oncology Practice.Clinical ophthalmology (Auckland, N.Z.) · 2024Article
- Retinoblastoma: present scenario and future challenges.Cell communication and signaling : CCS · 2023Review
- Secondary leiomyosarcoma of the nasal cavity in a treated patient with possible hereditary retinoblastoma with germline reciprocal translocation of RB1 and DMXL1 and somatic TP53 mutation: A case report.Molecular and clinical oncology · 2023Article
- Review
- Relevance of pRB Loss in Human Malignancies.Clinical cancer research : an official journal of the American Association for Cancer Research · 2022Review
- Increased Risk of Skin Cancer in 1,851 Long-Term Retinoblastoma Survivors.The Journal of investigative dermatology · 2021Article
- Retinoblastoma genetics screening and clinical management.BMC medical genomics · 2021Article
- Introduction of a Variant Classification System for Analysis of Genotype-Phenotype Relationships in Heritable Retinoblastoma.Cancers · 2021Article
- Review
- Clinical characteristics and overall survival nomogram of second primary malignancies after prostate cancer, a SEER population-based study.Scientific reports · 2021Article
- Second primary tumors in retinoblastoma survivors: a study of 7 Asian Indian patients.International ophthalmology · 2020Article
- Recommendations for Long-Term Follow-up of Adults with Heritable Retinoblastoma.Ophthalmology · 2020Review
- Atypical Lipomatous Tumor/Well-Differentiated Liposarcoma with Myxoid Stroma in a Hereditary Retinoblastoma Survivor.Ocular oncology and pathology · 2020Article
- Osteosarcoma without prior retinoblastoma related to RB1 low-penetrance germline pathogenic variants: A novel type of RB1-related hereditary predisposition syndrome?Molecular genetics & genomic medicine · 2019Article
- Germline variants associated with leukocyte genes predict tumor recurrence in breast cancer patients.NPJ precision oncology · 2019Article
- Defective splicing of the RB1 transcript is the dominant cause of retinoblastomas.Human genetics · 2017Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
8 authors at 3 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Survivors of hereditary retinoblastoma have a high risk of second primary malignancies, but it has not been investigated whether specific RB1 germline mutations are associated with greater risk of second primary malignancies in a large cohort. We conducted a retrospective cohort study of 199 survivors of hereditary retinoblastoma with a documented RB1 germline mutation diagnosed between 1905 and 2005. In total, 44 hereditary retinoblastoma survivors developed a second primary malignancy after a median follow-up of 30.2 years (range 1.33-76.0). A significantly increased risk of second primary malignancy was observed among carriers of one of the 11 recurrent CGA>TGA nonsense RB1 mutations (hazard ratio (HR) = 3.53; [95% confidence interval (CI) = 1.82-6.84]; P = .000), and there was a significantly lower risk for subjects with a low penetrance mutation (HR = .19; [95% CI = .05-.81]; P = .025). Our findings suggest a genotype-phenotype correlation for second primary cancers of retinoblastoma survivors and may impact on long-term surveillance protocols of patients with hereditary retinoblastoma, if confirmed by future studies.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.