ArticleEuropean journal of human genetics : EJHG2015
Folate-related polymorphisms in gastrointestinal stromal tumours: susceptibility and correlation with tumour characteristics and clinical outcome.
Article in European journal of human genetics : EJHG, 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 15 papers.
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Who cites it
15 citing papers in PubMed, 21 citations in OpenAlex.
- Genetic influence of PPAR-γ rs1801282 and MTRR rs162036 variants on non-small cell lung cancer risk in Egyptians.Discover oncology · 2026Article
- Advances in the diagnosis and treatment of MET-variant digestive tract tumors.World journal of gastrointestinal oncology · 2024Review
- The causal relationship between trace element status and upper gastrointestinal ulcers: a Mendelian randomization study.Frontiers in nutrition · 2024Article
- Prevalence and significance of M541L single nucleotide polymorphism in the central European cohort of gastrointestinal stromal tumor patients.Journal of cancer research and clinical oncology · 2021Article
- Plasma Homocysteine and Polymorphisms of Genes Involved in Folate Metabolism Correlate withMetabolites · 2019Article
- Targeted Next-Generation Sequencing Identifies Novel Sequence Variations of Genes Associated with Nonobstructive Azoospermia in the Han Population of Northeast China.Medical science monitor : international medical journal of experimental and clinical research · 2019Article
- An exploratory study by DMET array identifies a germline signature associated with imatinib response in gastrointestinal stromal tumor.The pharmacogenomics journal · 2019Article
- The rs17084733 variant in theEpigenetics · 2019Article
- Somatic pharmacogenomics of gastrointestinal stromal tumor.Cancer drug resistance (Alhambra, Calif.) · 2019Review
- Clinical relevance of circulating molecules in cancer: focus on gastrointestinal stromal tumors.Therapeutic advances in medical oncology · 2019Review
- Gastrointestinal stromal tumors (GIST): Facing cell death between autophagy and apoptosis.Autophagy · 2017Review
- Polymorphisms in DNA repair genes in gastrointestinal stromal tumours: susceptibility and correlation with tumour characteristics and clinical outcome.Tumour biology : the journal of the International Society for Oncodevelopmental Biology and Medicine · 2016Article
- Simultaneous Analysis of SEPT9 Promoter Methylation Status, Micronuclei Frequency, and Folate-Related Gene Polymorphisms: The Potential for a Novel Blood-Based Colorectal Cancer Biomarker.International journal of molecular sciences · 2015Article
- KIT exon 10 variant (c.1621 A > C) single nucleotide polymorphism as predictor of GIST patient outcome.BMC cancer · 2015Article
- Personalized Medicine in Gastrointestinal Stromal Tumor (GIST): Clinical Implications of the Somatic and Germline DNA Analysis.International journal of molecular sciences · 2015Review
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Authors and funding
13 authors at 4 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
The folate metabolism pathway has a crucial role in tumorigenesis as it supports numerous critical intracellular reactions, including DNA synthesis, repair, and methylation. Despite its importance, little is known about the influence of the folate pathway on gastrointestinal stromal tumour (GIST), a rare tumour with an incidence ranging between 6 and 19.6 cases per million worldwide. The importance of folate metabolism led us to investigate the influence of polymorphisms in the genes coding folate-metabolising enzymes on GIST susceptibility, tumour characteristics and clinical outcome. We investigated a panel of 13 polymorphisms in 8 genes in 60 cases and 153 controls. The TS 6-bp deletion allele (formerly rs34489327, delTInsTTAAAG) was associated with reduced risk of GIST (OR=0.20, 95% CI 0.05-0.67, P=0.0032). Selected polymorphisms in patients stratified by age, gender, and other main molecular and clinical characteristics showed that few genotypes may show a likely correlation. We also observed a significant association between the RFC AA/AG genotype and time to progression (HR=0.107, 95% CI 0.014-0.82; P=0.032). Furthermore, we observed a tendency towards an association between the SHMT1 variant allele (TT, rs1979277) and early death (HR=4.53, 95% CI 0.77-26.58, P=0.087). Aware of the strengths and limitations of the study, these results suggest that polymorphisms may modify the risk of GIST and clinical outcome, pointing to the necessity for further investigations with information on folate plasma levels and a larger study population.
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