ArticleJournal of the National Cancer Institute2014
Rare variants in TP53 and susceptibility to neuroblastoma.
Article in Journal of the National Cancer Institute, 2014. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 79 papers, 7 of them syntheses that pooled it.
What it found
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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.
The trial behind it
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
79 citing papers in PubMed, 7 syntheses or guidelines pooled it, 121 citations in OpenAlex.
- Neural crest-derived tumor neuroblastoma and melanoma share 1p13.2 as susceptibility locus that shows a long-range interaction with the SLC16A1 gene.Carcinogenesis · 2020Pooled it
- LMO1 polymorphisms and the risk of neuroblastoma: Assessment of meta-analysis of case-control studies.Journal of cellular and molecular medicine · 2020Pooled it
- Genome-wide association and epidemiological analyses reveal common genetic origins between uterine leiomyomata and endometriosis.Nature communications · 2019Pooled it
- Variants associating with uterine leiomyoma highlight genetic background shared by various cancers and hormone-related traits.Nature communications · 2018Pooled it
- Evaluation of Genetic Predisposition for MYCN-Amplified Neuroblastoma.Journal of the National Cancer Institute · 2017Pooled it
- A novel TP53 variant (rs78378222 A > C) in the polyadenylation signal is associated with increased cancer susceptibility: evidence from a meta-analysis.Oncotarget · 2016Pooled it
- Genetic predisposition to neuroblastoma mediated by a LMO1 super-enhancer polymorphism.Nature · 2015Pooled it
- Regulatory Relationships between DNA Methylation and Long Noncoding RNAs in Neuroblastoma.Current medicinal chemistry · 2026Review
- Associations of CCAT2 gene polymorphisms with neuroblastoma susceptibility in children from Jiangsu province.European journal of medical research · 2025Article
- Cross-ancestral GWAS identifies 29 variants across head and neck cancer subsites.Nature communications · 2025Article
- A gap analysis of UK biobank publications reveals SNPs associated with intrinsic subtypes of breast cancer.Computational and structural biotechnology journal · 2024Article
- Lineage specific transcription factor waves reprogram neuroblastoma from self-renewal to differentiation.Nature communications · 2024Article
- Article
- Germline pathogenic variants in neuroblastoma patients are enriched in BARD1 and predict worse survival.Journal of the National Cancer Institute · 2024Article
- Exploring the frequency of a TP53 polyadenylation signal variant in tumor DNA from patients diagnosed with lung adenocarcinomas, sarcomas and uterine leiomyomas.Genetics and molecular biology · 2024Article
- RTEL1 gene polymorphisms and neuroblastoma risk in Chinese children.BMC cancer · 2023Article
- Emerging insights into ethnic-specific TP53 germline variants.Journal of the National Cancer Institute · 2023Review
- TP53 and TP53-associated genes are correlated with the prognosis of paediatric neuroblastoma.BMC genomic data · 2022Article
- Genetic Analysis in African American Children Supports Ancestry-Specific Neuroblastoma Susceptibility.Cancer epidemiology, biomarkers & prevention : a publication of the American Association for Cancer Research, cosponsored by the American Society of Preventive Oncology · 2022Article
- From GWAS to drug screening: repurposing antipsychotics for glioblastoma.Journal of translational medicine · 2022Article
19 more citing papers are in PubMed but not listed here.
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
11 authors at 4 institutions in 2 countries.
Funding
Abstract
TP53 is the most frequently mutated gene in human malignancies; however, de novo somatic mutations in childhood embryonal cancers such as neuroblastoma are rare. We report on the analysis of three independent case-control cohorts comprising 10290 individuals and demonstrate that rs78378222 and rs35850753, rare germline variants in linkage disequilibrium that map to the 3' untranslated region (UTR) of TP53 and 5' UTR of the Δ133 isoform of TP53, respectively, are robustly associated with neuroblastoma (rs35850753: odds ratio [OR] = 2.7, 95% confidence interval [CI] = 2.0 to 3.6, P combined = 3.43×10(-12); rs78378222: OR = 2.3, 95% CI = 1.8 to 2.9, P combined = 2.03×10(-11)). All statistical tests were two-sided. These findings add neuroblastoma to the complex repertoire of human cancers influenced by the rs78378222 hypomorphic allele, which impairs proper termination and polyadenylation of TP53 transcripts. Future studies using whole-genome sequencing data are likely to reveal additional rare variants with large effect sizes contributing to neuroblastoma tumorigenesis.
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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.