ArticleBritish journal of cancer2013
Low penetrance susceptibility to glioma is caused by the TP53 variant rs78378222.
Article in British journal of cancer, 2013. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 34 papers, 6 of them syntheses that pooled it.
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Who cites it
34 citing papers in PubMed, 6 syntheses or guidelines pooled it, 59 citations in OpenAlex.
- Clinicopathological and Prognostic Roles of STAT3 and Its Phosphorylation in Glioma.Disease markers · 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
- 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
- Genome-wide association study identifies multiple susceptibility loci for glioma.Nature communications · 2015Pooled it
- Allergic conditions reduce the risk of glioma: a meta-analysis based on 128,936 subjects.Tumour biology : the journal of the International Society for Oncodevelopmental Biology and Medicine · 2014Pooled it
- Genome-wide association study of 398,238 women unveils seven loci associated with high-grade serous ovarian cancer.NPJ genomic medicine · 2025Article
- Association of NID2 SNPs with Glioma Risk and Prognosis in the Chinese Population.Neuromolecular medicine · 2024Article
- Previously reported CCDC26 risk variant and novel germline variants in GALNT13, AR, and MYO10 associated with familial glioma in Finland.Scientific reports · 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
- Emerging insights into ethnic-specific TP53 germline variants.Journal of the National Cancer Institute · 2023Review
- Review
- Germline-somatic JAK2 interactions are associated with clonal expansion in myelofibrosis.Nature communications · 2022Article
- Blood functional assay for rapid clinical interpretation of germlineJournal of medical genetics · 2021Article
- A functional variant on 20q13.33 related to glioma risk alters enhancer activity and modulates expression of multiple genes.Human mutation · 2021Article
- Glioma risk associated with extent of estimated European genetic ancestry in African Americans and Hispanics.International journal of cancer · 2020Article
- Dissecting Molecular Features of Gliomas: Genetic Loci and Validated Biomarkers.International journal of molecular sciences · 2020Review
- Article
- Tissue-specific microRNA expression alters cancer susceptibility conferred by a TP53 noncoding variant.Nature communications · 2019Article
- Common genetic variants in the TP53 pathway and their impact on cancer.Journal of molecular cell biology · 2019Review
Corrections and comments
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Authors and funding
33 authors at 15 institutions in 5 countries.
Funding
Abstract
backgroundMost of the heritable risk of glioma is presently unaccounted for by mutations in known genes. In addition to rare inactivating germline mutations in TP53 causing glioma in the context of the Li-Fraumeni syndrome, polymorphic variation in TP53 may also contribute to the risk of developing glioma.
methodsTo comprehensively evaluate the impact of variation in TP53 on risk, we analysed 23 tagSNPs and imputed 2377 unobserved genotypes in four series totaling 4147 glioma cases and 7435 controls.
resultsThe strongest validated association signal was shown by the imputed single-nucleotide polymorphism (SNP) rs78378222 (P=6.86 × 10(-24), minor allele frequency ~0.013). Confirmatory genotyping confirmed the high quality of the imputation. The association between rs78378222 and risk was seen for both glioblastoma multiforme (GBM) and non-GBM tumours. We comprehensively examined the relationship between rs78378222 and overall survival in two of the case series totaling 1699 individuals. Despite employing statistical tests sensitive to the detection of differences in early survival, no association was shown.
conclusionOur data provided strong validation of rs78378222 as a risk factor for glioma but do not support the tenet that the polymorphism being a clinically useful prognostic marker. Acquired TP53 inactivation is a common feature of glioma. As rs78378222 changes the polyadenylation signal of TP53 leading to impaired 3'-end processing of TP53 mRNA, the SNP has strong plausibility for being directly functional contributing to the aetiological basis of glioma.
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