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    GENE:

    MTHFR (Methylenetetrahydrofolate Reductase)

    i
    Other names: MTHFR, methylenetetrahydrofolate reductase, Methylenetetrahydrofolate Reductase (NAD(P)H) 5,10-Methylenetetrahydrofolate Reductase (NADPH),
    1d
    Dose-adjustment of Enoxaparin by a Bayesian Pharmacological Approach in Pediatric Kidney Transplant Recipients (OPTI-TREX) (clinicaltrials.gov)
    P4, N=50, Completed, Assistance Publique - Hôpitaux de Paris | Recruiting --> Completed | Trial completion date: Oct 2026 --> Jan 2026 | Trial primary completion date: Jul 2026 --> Sep 2025
    Trial completion • Trial completion date • Trial primary completion date
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    MTHFR (Methylenetetrahydrofolate Reductase)
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    enoxaparin sodium
    11d
    Clinical Significance of MTHFR C677T and A1298C Polymorphisms in Adult Patients with ALL and NHL. (PubMed, J Clin Med)
    This association was also observed in the DLBCL subgroup for PFS (p = 0.043), with a similar non-significant trend observed for OS. Although MTHFR genotyping appears to have limited value for broad clinical stratification, the observed association between the C677T polymorphism and PFS in NHL-particularly in the DLBCL subgroup-suggests a potential subtype-specific relevance that warrants further validation in larger, disease-specific cohorts.
    Journal
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    MTHFR (Methylenetetrahydrofolate Reductase)
    12d
    Genetic Variants Associated With Oral Mucositis in Pediatric Patients With Acute Lymphoblastic Leukemia and Lymphoma Undergoing Chemotherapy. (PubMed, Pediatr Blood Cancer)
    This study suggests potential future treatment strategies, with the possibility of increasing efficacy, reducing toxicity, and improving survival rates in pediatric oncology patients.
    Journal
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    ABCC1 (ATP Binding Cassette Subfamily C Member 1) • MTHFR (Methylenetetrahydrofolate Reductase) • ABCC2 (ATP Binding Cassette Subfamily C Member 2) • GSTM1 (Glutathione S-transferase mu 1) • ABCC6 (ATP Binding Cassette Subfamily C Member 6) • HSP90AA1 (Heat Shock Protein 90 Alpha Family Class A Member 1Heat Shock Protein 90 Alpha Family Class A Member 1)
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    doxorubicin hydrochloride • cyclophosphamide • methotrexate
    19d
    Association of MTHFR gene polymorphisms with methotrexate metabolism in children with acute lymphoblastic leukemia (PubMed, Zhongguo Dang Dai Er Ke Za Zhi)
    Serum MTX concentration serves as an objective marker of MTX-related toxicity. Under adequate rescue therapy and concentration monitoring, a single MTHFR polymorphism appears insufficient to guide dose adjustment. A combined strategy is recommended, with concentration monitoring as the primary approach and genetic factors as an adjunct.
    Journal
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    MTHFR (Methylenetetrahydrofolate Reductase)
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    methotrexate • methotrexate IV
    19d
    Investigating Genetic Risk to Oxaliplatin-Induced Sinusoidal Obstruction Syndrome in Colorectal Cancer Through Routinely Available NGS Data. (PubMed, Mod Pathol)
    These findings highlight the utility of expanded analysis of routinely obtained NGS panel results at the time of CRC diagnosis at many medical centers to personalize the chemotherapy regimen. Our data suggest that patients who carry the ERCC1 rs11615 (A>G) variant may be protected from developing oxaliplatin-induced SOS and those lacking the G allele should be monitored more carefully after oxaliplatin use.
    Journal • Next-generation sequencing
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    ABCB1 (ATP Binding Cassette Subfamily B Member 1) • ERCC1 (Excision repair cross-complementation group 1) • ERCC2 (Excision repair cross-complementation group 2) • UGT1A1 (UDP glucuronosyltransferase family 1 member A1) • GSTP1 (Glutathione S-transferase pi 1) • MTHFR (Methylenetetrahydrofolate Reductase) • ABCC2 (ATP Binding Cassette Subfamily C Member 2) • DPYD (Dihydropyrimidine Dehydrogenase) • GSTM1 (Glutathione S-transferase mu 1) • GSTT1 (Glutathione S-transferase theta 1)
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    oxaliplatin
    20d
    Amino acid metabolism-related model for prognosis and immunity in gastric cancer. (PubMed, Amino Acids)
    Our AAMRGs prognostic model reveals AAMRGs as independent prognostic factors for GC, highlighting their association with prognosis and immune cell infiltration. These findings provide important insights for improving survival outcomes and advancing immunotherapy strategies in GC.
    Journal • IO biomarker
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    MTHFR (Methylenetetrahydrofolate Reductase) • COL1A1 (Collagen Type I Alpha 1 Chain) • PDK4 (Pyruvate Dehydrogenase Kinase 4) • KYNU (Kynureninase) • NR1D1 (Nuclear Receptor Subfamily 1 Group D Member 1) • ADH4 (Alcohol Dehydrogenase 4 (Class II), Pi Polypeptide)
    20d
    Molecular Effect of Tobacco on Genetic, Epigenetic, and Metabolic Pathways During Cancer Progression. (PubMed, Cureus)
    These findings underscore the need for targeted interventions, such as epigenetic therapies, metabolic reprogramming, and robust tobacco control policies, to mitigate the global burden of tobacco-related diseases. By providing a unified framework for understanding tobacco's molecular impact, this research advocates for precision medicine and public health strategies to address the pervasive effects of tobacco on human health.
    Review • Journal • PARP Biomarker • IO biomarker
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    BCL2 (B-cell CLL/lymphoma 2) • CDKN2A (Cyclin Dependent Kinase Inhibitor 2A) • TERT (Telomerase Reverse Transcriptase) • EZH2 (Enhancer of zeste 2 polycomb repressive complex 2 subunit) • IL6 (Interleukin 6) • TNFA (Tumor Necrosis Factor-Alpha) • HIF1A (Hypoxia inducible factor 1, alpha subunit) • ATR (Ataxia telangiectasia and Rad3-related protein) • PARP1 (Poly(ADP-Ribose) Polymerase 1) • MTHFR (Methylenetetrahydrofolate Reductase) • SOX2 • CASP3 (Caspase 3) • POU5F1 (POU Class 5 Homeobox 1) • CASP9 (Caspase 9) • HDAC1 (Histone Deacetylase 1) • YBX1 (Y-Box Binding Protein 1) • NANOG (Nanog Homeobox) • DRD2 (Dopamine Receptor D2) • SUV39H1 (SUV39H1 Histone Lysine Methyltransferase) • TCF4 (Transcription Factor 4) • COMT (Catechol-O-Methyltransferase)
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    TP53 mutation
    1m
    Role of human papillomavirus (HPV) variants and host genetic susceptibility in cervical carcinogenesis. (PubMed, Arch Microbiol)
    Advancements such as next-generation sequencing and immunogenetics, which identify the relationship between HPV variants and host immune genes that modulate disease susceptibility, vaccine responsiveness, and progression patterns across various genetic backgrounds. This review systematically integrates molecular mechanisms of HPV variant-induced oncogenesis and host genetic susceptibility with emphasis on population-based variability in addition to evidence culled from meta-analyses and GWAS data for immune regulation, DNA repair, as well as host single nucleotide polymorphisms in different populations and its implications for personalized prevention measures, screening, and vaccine response.
    Review • Journal
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    TP53 (Tumor protein P53) • IFNG (Interferon, gamma) • TNFA (Tumor Necrosis Factor-Alpha) • IL10 (Interleukin 10) • MTHFR (Methylenetetrahydrofolate Reductase) • GSTM1 (Glutathione S-transferase mu 1) • XRCC1 (X-Ray Repair Cross Complementing 1) • GSTT1 (Glutathione S-transferase theta 1)
    1m
    The Contribution of Genetic Modifiers to Ovarian Cancer Risk in BRCA1 and BRCA2 Pathogenic Variant Carriers. (PubMed, Cancers (Basel))
    The analysis identified 11 variants affecting both BRCA1 and BRCA2 carriers, most of which increase risk, including the following: IRS1, RSPO1, SYNPO2, BABAM1, MRPL34, PLEKHM1, and TIPARP...The only SNP reaching genome-wide significance (p < 5 × 10-8) was in BNC2. The article summarizes the growing number of genetic modifiers of ovarian cancer risk among BRCA1/2 carriers and highlights their potential to improve individualized risk assessment, enhance patient stratification, support personalized prevention and surveillance strategies, deepen the understanding of disease biology, and identify potential therapeutic targets.
    Review • Journal
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    BRCA1 (Breast cancer 1, early onset) • BRCA2 (Breast cancer 2, early onset) • HRAS (Harvey rat sarcoma viral oncogene homolog) • BRCA (Breast cancer early onset) • RAD51 (RAD51 Homolog A) • BRIP1 (BRCA1 Interacting Protein C-terminal Helicase 1) • MTHFR (Methylenetetrahydrofolate Reductase) • BARD1 (BRCA1 Associated RING Domain 1) • MRE11A (MRE11 homolog, double strand break repair nuclease) • CASP8 (Caspase 8) • PARP2 (Poly(ADP-Ribose) Polymerase 2) • RSPO1 (R-Spondin 1) • TIPARP (TCDD Inducible Poly(ADP-Ribose) Polymerase) • ITGB3 (Integrin Subunit Beta 3)
    1m
    Towards Precision Oncology: A Predictive Nomogram Incorporating DPD and MTHFR for CapeOX Neoadjuvant Chemotherapy in Colorectal Cancer. (PubMed, Asian Pac J Cancer Prev)
    A predictive nomogram that incorporated DPD and MTHFR has improved individualized estimation of CapeOX neoadjuvant chemotherapy response in CRC, supporting precision oncology strategies.
    Journal
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    MTHFR (Methylenetetrahydrofolate Reductase)
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    capecitabine • oxaliplatin