ArticleJournal of neuro-oncology2016
Genetic risk variants in the CDKN2A/B, RTEL1 and EGFR genes are associated with somatic biomarkers in glioma.
Article in Journal of neuro-oncology, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 21 papers, 4 of them syntheses that pooled it.
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Who cites it
21 citing papers in PubMed, 4 syntheses or guidelines pooled it, 32 citations in OpenAlex.
- Multi-ancestry genome-wide association study of 4069 children with glioma identifies 9p21.3 risk locus.Neuro-oncology · 2023Pooled it
- Diagnostic accuracy of 1p/19q codeletion tests in oligodendroglioma: A comprehensive meta-analysis based on a Cochrane systematic review.Neuropathology and applied neurobiology · 2022Pooled it
- Tracing the origins of glioblastoma by investigating the role of gliogenic and related neurogenic genes/signaling pathways in GBM development: a systematic review.World journal of surgical oncology · 2022Pooled it
- Diagnostic test accuracy and cost-effectiveness of tests for codeletion of chromosomal arms 1p and 19q in people with glioma.The Cochrane database of systematic reviews · 2022Pooled it
- Everolimus in combination with vandetanib in children, adolescents, and young adults: a phase I study.ESMO open · 2023Article
- The Long Non-Coding RNA ANRIL in Cancers.Cancers · 2023Review
- Asian-specific 3'UTR variant in CDKN2B associated with risk of pituitary adenoma.Molecular biology reports · 2022Article
- Screening of potential novel candidate genes in schwannomatosis patients.Human mutation · 2022Article
- Aggressiveness of Grade 4 Gliomas of Adults.Clinics and practice · 2022Article
- PRKAR2A-derived circular RNAs promote the malignant transformation of colitis and distinguish patients with colitis-associated colorectal cancer.Clinical and translational medicine · 2022Article
- Case report: tumor-treating fields prolongs IDH-mutant anaplastic astrocytoma progression-free survival and pathological evolution to glioblastoma.Annals of translational medicine · 2021Article
- Prognostic and Predictive Biomarkers in Gliomas.International journal of molecular sciences · 2021Review
- Copy Number Variation and Rearrangements Assessment in Cancer: Comparison of Droplet Digital PCR with the Current Approaches.International journal of molecular sciences · 2021Review
- The EGFR Polymorphism Increased the Risk of Hepatocellular Carcinoma Through the miR-3196-Dependent Approach in Chinese Han Population.Pharmacogenomics and personalized medicine · 2021Article
- Identification of Iron Metabolism-Related Genes as Prognostic Indicators for Lower-Grade Glioma.Frontiers in oncology · 2021Article
- Critical role of HOX transcript antisense intergenic RNA (HOTAIR) in gliomas.Journal of molecular medicine (Berlin, Germany) · 2020Review
- Replication of GWAS identifies RTEL1, CDKN2A/B, and PHLDB1 SNPs as risk factors in Portuguese gliomas patients.Molecular biology reports · 2020Article
- The Genetic Architecture of Gliomagenesis-Genetic Risk Variants Linked to Specific Molecular Subtypes.Cancers · 2019Review
- Functional network analysis of gene-phenotype connectivity associated with temozolomide.Oncotarget · 2017Article
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Authors and funding
7 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
During the last years, genome wide association studies have discovered common germline genetic variants associated with specific glioma subtypes. We aimed to study the association between these germline risk variants and tumor phenotypes, including copy number aberrations and protein expression. A total of 91 glioma patients were included. Thirteen well known genetic risk variants in TERT, EGFR, CCDC26, CDKN2A, CDKN2B, PHLDB1, TP53, and RTEL1 were selected for investigation of possible correlations with the glioma somatic markers: EGFR amplification, 1p/19q codeletion and protein expression of p53, Ki-67, and mutated IDH1. The CDKN2A/B risk variant, rs4977756, and the CDKN2B risk variant, rs1412829 were inversely associated (p = 0.049 and p = 0.002, respectively) with absence of a mutated IDH1, i.e., the majority of patients homozygous for the risk allele showed no or low expression of mutated IDH1. The RTEL1 risk variant, rs6010620 was associated (p = 0.013) with not having 1p/19q codeletion, i.e., the majority of patients homozygous for the risk allele did not show 1p/19q codeletion. In addition, the EGFR risk variant rs17172430 and the CDKN2B risk variant rs1412829, both showed a trend for association (p = 0.055 and p = 0.051, respectively) with increased EGFR copy number, i.e., the majority of patients homozygote for the risk alleles showed chromosomal gain or amplification of EGFR. Our findings indicate that CDKN2A/B risk genotypes are associated with primary glioblastoma without IDH mutation, and that there is an inverse association between RTEL1 risk genotypes and 1p/19q codeletion, suggesting that these genetic variants have a molecular impact on the genesis of high graded brain tumors. Further experimental studies are needed to delineate the functional mechanism of the association between genotype and somatic genetic aberrations.
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