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BIOMARKER:

MTHFR C677T

i
Other names: MTHFR, methylenetetrahydrofolate reductase, Methylenetetrahydrofolate Reductase (NAD(P)H) 5,10-Methylenetetrahydrofolate Reductase (NADPH),
Entrez ID:
Related biomarkers:
2d
Detection of Methylene Tetrahydrofolate Reductase (MTHFR C677T) Mutation among Acute Lymphoblastic Leukemia in Sudanese Patients. (PubMed, Rep Biochem Mol Biol)
According to the findings of this study, the mutant allele of the Methylene Tetra Hydro Folate Reductase C677T was detected and demonstrated varying degrees of significance. It was concluded that the MTHFR C677T gene mutation was associated with acute lymphoblastic leukemia in Sudanese patients.
Journal
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MTHFR (Methylenetetrahydrofolate Reductase)
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MTHFR C677T
15d
The combined effect of MTHFR C677T and A1298C polymorphisms on the risk of digestive system cancer among a hypertensive population. (PubMed, Discov Oncol)
These findings indicate a potential protective effect against digestive system cancer associated with the T allele of MTHFR C677T. Moreover, we observed that the presence of different combinations of MTHFR polymorphisms may contribute to varying susceptibilities to digestive system cancer.
Journal
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MTHFR (Methylenetetrahydrofolate Reductase)
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MTHFR C677T
16d
Involvement of the ABCB1 C3435T Variant but Not the MTHFR C677T or MTHFR A1298C Variant in High-Dose Methotrexate-Induced Toxicity in Pediatric Acute Lymphoblastic Leukemia Patients in China. (PubMed, Int J Gen Med)
This study showed that the ABCB1 C3435T homozygous allele genotype (TT) is associated with increased MTX-related toxicities (leukopenia, neutropenia and oral mucositis). These results may help to distinguish pediatric ALL patients with a relatively high risk of MTX-related toxicities before HD-MTX infusion and optimize MTX treatment.
Journal
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ABCB1 (ATP Binding Cassette Subfamily B Member 1) • MTHFR (Methylenetetrahydrofolate Reductase)
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MTHFR C677T • ABCB1 C3435T
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methotrexate
1m
Association Between Multiple Single Nucleotide Polymorphisms in Folate Metabolism Pathway and Breast Cancer Risk in Georgian Women: A Case-Control Study. (PubMed, Clin Med Insights Oncol)
No statistically significant link was found between genotypes and lymph node status, however, patients with the CT genotype had higher percentages of proliferative activity. Breast cancer seems to have a statistically significant association with the CT genotype in MTHFR C677T and the GA genotype in MTHFD1 G1958A in Georgian women.
Journal
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MTHFR (Methylenetetrahydrofolate Reductase)
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MTHFR C677T
2ms
Inherited Thrombophilia and Risk of Thrombosis in Children with Cancer: a Single-center Experience. (PubMed, Acta Med Acad)
Thrombosis is an important complication of childhood cancer. The risk of thrombosis may be increased in patients with Factor V Leiden. In the absence of consensus guidelines, our results support the recommendation for thrombophilia screening in children with cancer.
Journal
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MTHFR (Methylenetetrahydrofolate Reductase)
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MTHFR C677T
2ms
The Effects of Genetic Polymorphism on Toxicity and Pharmacokinetics of Methotrexate in Egyptian Adult Patients with Leukaemia or Lymphoma. (PubMed, Xenobiotica)
GGH mutation was mainly concerned with anemia. Pharmacogenetic testing are recommended to optimize MTX therapy.
PK/PD data • Journal
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MTHFR (Methylenetetrahydrofolate Reductase)
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MTHFR C677T
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methotrexate • methotrexate IV
2ms
Associations between MTHFR gene polymorphisms (C677T and A1298C) and genetic susceptibility to prostate cancer: a systematic review and meta-analysis. (PubMed, Front Genet)
However, the C677T polymorphism was associated with reduced prostate cancer risk in the Asian population (T allele vs. C allele: OR = 0.759, 95% CI 0.669-0.861, p < 0.001; TT + CT vs. CC: OR = 0.720, 95% CI 0.638-0.812, p < 0.001; TT vs. CC + CT: OR = 0.719, 95% CI 0.617-0.838, p < 0.001; TT vs. CC: OR = 0.620, 95% CI 0.522-0.737, p < 0.001); however, the A1298C polymorphism was associated with an increased risk in the mixed race group from the United States (CC + AC vs. AA: OR = 1.464, 95% CI 1.052-2.037, p = 0.024; AC vs. AA: OR = 1.615, 95% CI 1.037-2.514, p = 0.034). The meta-analysis suggested that MTHFR gene polymorphisms (C677T and A1298C) may have different effects on prostate cancer risk in specific populations.
Retrospective data • Review • Journal
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MTHFR (Methylenetetrahydrofolate Reductase)
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MTHFR C677T
3ms
Methylenetetrahydrofolate reductase polymorphic variants C677T and A1298C in rectal cancer in Slavic population: significance for cancer risk and response to chemoradiotherapy. (PubMed, Front Genet)
The aim of this study was to examine the association of MTHFR C677T (rs1801133) and A1298C (rs1801131) single nucleotide polymorphisms with the risk of rectal cancer as well as the response to neoadjuvant chemoradiotherapy (nCRT) based on 5-Fluorouracil (5-FU)/leucovorin (LV) in the locally advanced setting. Our data point to MTHFR 667C allele and 1298A alleles as low-penetrance risk factors for rectal cancer in our population. To the best of our knowledge, this is the first study of this type performed on the Slavic population in the Western Balkan, as various population-based factors might also be significant our findings can be used for future meta-analyses and the construction of genetic cancer risk prediction panels.
Journal
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MTHFR (Methylenetetrahydrofolate Reductase)
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MTHFR C677T
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5-fluorouracil • leucovorin calcium
3ms
Correlation between gene polymorphism and adverse reactions of high-dose methotrexate in osteosarcoma patients: a systematic review and meta-analysis. (PubMed, World J Surg Oncol)
The MTHFR C677T mutation may enhance the risk of HD-MTX adverse reactions in osteosarcoma patients. Existing studies have not found a significant correlation between the MTHFR A1298C, RFC1 G80A, and MDR1 C3435T polymorphism and adverse reactions caused by HD-MTX. Lastly, this conclusion was limited because of few studies.
Retrospective data • Review • Journal
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ABCB1 (ATP Binding Cassette Subfamily B Member 1) • MTHFR (Methylenetetrahydrofolate Reductase)
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MTHFR C677T
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methotrexate
5ms
Impact of MTHFR Polymorphisms C677T and A1298C in Acute Lymphoblastic Leukemia and Burkitt Lymphoma Patients Exposed to Methotrexate and Asparaginase (ASH 2023)
5 - 5 g/m 2 and Asp 1000-2000 UI/m 2), patients with BL received modified Rituxumab (R)-BFM protocol (MTX 1... The analysis ofMTHFR polymorphisms in adult patients is useful in identifying patients at higher risk for transaminitis, providing a biological parameter to integrate with hepatosteatosis, liver stiffness evaluation and BMI, for a comprehensive hepatic baseline evaluation. Patients at higher risk for hepatic complications may benefit from MTX dose reduction with no impact on disease outcome.
Clinical
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MTHFR (Methylenetetrahydrofolate Reductase)
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MTHFR C677T
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Rituxan (rituximab) • methotrexate • methotrexate IV
5ms
MTHFR C677T and A1298C polymorphism's effect on risk of colorectal cancer in Lynch syndrome. (PubMed, Sci Rep)
In comparison, no association was observed for C677T (rs1801133). In conclusion, our study suggests that combining the MMR gene information with the MTHFR genotype, including the aggregated effect of protective alleles, could be useful in developing an algorithm that estimates the risk of CRC in LS individuals.
Journal
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MLH1 (MutL homolog 1) • MSH2 (MutS Homolog 2) • EPCAM (Epithelial cell adhesion molecule) • MTHFR (Methylenetetrahydrofolate Reductase)
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MTHFR C677T
6ms
Inherited Thrombophilia Gene Mutations and Risk of Venous Thromboembolism in Cancer: A Systematic Review and Meta-Analysis (ASH 2023)
In conclusion, this meta-analysis provides evidence that non-O blood type, FVL, Prothrombin Factor II G20210A and heterozygous MTHFR C677T significantly increase the risk of VTE in cancer patients. However, there is moderate to high risk of bias in the currently available data, further well-designed studies are needed.
Retrospective data • Review
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MTHFR (Methylenetetrahydrofolate Reductase)
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MTHFR C677T
6ms
MTHFR and risk of stroke and heart disease in a low-folate population: a prospective study of 156 000 Chinese adults. (PubMed, Int J Epidemiol)
In Chinese adults, the MTHFR C677T polymorphism was associated with higher risks of stroke. The findings warrant corroboration by further trials of folic acid and implementation of mandatory folic acid fortification programmes for stroke prevention in low-folate populations.
Journal
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MTHFR (Methylenetetrahydrofolate Reductase)
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MTHFR C677T
6ms
METHYLENETETRAHYDROFOLATE REDUCTASE POLYMORPHISMS AND RISK OF RECURRENCE STROKE IN EMBOLIC STROKE OF UNDETERMINED SOURCE PATIENTS (WSC 2023)
ESUS is significantly associated with hypertension, heart disease, and cancer. Although the MTHFR polymorphisms were commonly observed in ESUS patients, no association has been observed with recurrent stroke within 3 months.
Clinical
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MTHFR (Methylenetetrahydrofolate Reductase)
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MTHFR C677T
6ms
Investigation of the Roles of MTHFR (C677T and A1298C) and MMP-2 (-1306C>T ) Variations in Bladder Cancer Development. (PubMed, Urol Res Pract)
In our study, TT genotype and T allele were determined as genetic risk factors for MMP-2 (-1306C>T) gene variation. For C677T/A1298C gene variations, CC- CC combined genotype was detected as the genetic risk factor in the development of bladder cancer.
Journal
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MMP2 (Matrix metallopeptidase 2) • MTHFR (Methylenetetrahydrofolate Reductase)
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MTHFR C677T
7ms
Genetic Variants in the Mitochondrial Thymidylate Biosynthesis Pathway Increase Colorectal Cancer Risk. (PubMed, Curr Oncol)
We assess the contributions of genetic variants for the enzymes involved in capecitabine metabolism to colorectal cancer (CRC) development risk...The heterozygous genotype of MTHFR A1298C variant provided highly significant protection against CRC development. Further examinations using a larger population size are needed to reliably confirm our findings.
Journal
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MTHFR (Methylenetetrahydrofolate Reductase)
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MTHFR C677T
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capecitabine
7ms
Influence of MTHFR polymorphism, alone or in combination with smoking and alcohol consumption, on cancer susceptibility. (PubMed, Open Life Sci)
Interestingly, significantly increased cancer risk was observed in individuals with C677T genetic variants who were nondrinkers, but not among drinkers. These findings highlight the potential role of the C677T polymorphism in modifying cancer risk in specific contexts, such as smoking and alcohol consumption.
Journal • Combination therapy
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MTHFR (Methylenetetrahydrofolate Reductase)
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MTHFR C677T
7ms
Methylenetetrahydrofolate Reductase C677T (rs1801133) Polymorphism Is Associated with Bladder Cancer in Asian Population: Epigenetic Meta-Analysis as Precision Medicine Approach. (PubMed, Cancers (Basel))
These insights into genetic factors influencing bladder cancer susceptibility could inform targeted prevention and treatment strategies. Further research is warranted to validate and expand these findings.
Retrospective data • Review • Journal
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MTHFR (Methylenetetrahydrofolate Reductase)
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MTHFR C677T
8ms
Relationship between MTHFR Gene Polymorphism(C677T) and Adverse Reactions of High-Dose Methotrexate in Pediatric Patients with Acute Lymphoblastic Leukemia (PubMed, Zhongguo Shi Yan Xue Ye Xue Za Zhi)
The MTHFR C677T mutations may be associated with myelosuppression and hepatotoxicity in children with ALL after high-dose MTX treatment.
Journal
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MTHFR (Methylenetetrahydrofolate Reductase)
|
MTHFR C677T
|
methotrexate
9ms
Susceptibility to preoperative seizures in glioma patients with elevated homocysteine levels. (PubMed, Epilepsia Open)
Glioma patients with hyperhomocysteinemia and the MTHFR C677T variant were susceptible to preoperative seizures, suggesting their potential as biomarkers for the management of seizures in glioma patients. The elevation of intratumoral Hcy is a possible mechanism underlying this susceptibility.
Journal
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MTHFR (Methylenetetrahydrofolate Reductase)
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MTHFR C677T
11ms
No association between MTHFR gene C677T/A1298C polymorphisms, serum folate, vitamin B12, homocysteine levels, and prostate cancer in an Algerian population. (PubMed, Mol Genet Genomic Med)
Our study suggests that MTHFR C677T and A1298C, as well as serum levels of folate, total homocysteine, and vitamin B12, are not associated with prostate cancer risk in the Algerian population. However, age and family history are significant risk factors. Further studies with a larger sample size are required to confirm these findings.
Journal
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MTHFR (Methylenetetrahydrofolate Reductase)
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MTHFR C677T
12ms
Methylenetetrahydrofolate reductase C677T and A1298C polymorphisms and gastric cancer susceptibility: an updated meta-analysis. (PubMed, Biosci Rep)
However, in subgroup analysis by hospital-based controls, we found that MTHFR CA1298C might be a protective factor for GC. After credibility assessment, the statistical association between MTHFRC677T and GC susceptibility study was classified as "less credible positive result", while the result of MTHFR CA1298C was considered unreliable. In summary, this study strongly suggests that MTHFR, C677T and CA1298C polymorphisms are not significantly associated with the GC risk.
Retrospective data • Journal
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MTHFR (Methylenetetrahydrofolate Reductase)
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MTHFR C677T
1year
Relationship between methylenetetrahydrofolate reductase gene polymorphisms and methotrexate drug metabolism and toxicity. (PubMed, Transl Pediatr)
Nonetheless, no increased risk of liver function impairment nor gastrointestinal reactions in children with the heterozygous mutant (AC)+CC mutation was observed. Advancements in MTHFR genotype testing in children with ALL and the introduction of personalised treatments based on genotype results during HD-MTX chemotherapy will help to predict, prevent, and reduce the occurrence of adverse MTX-related toxic reactions.
Journal
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MTHFR (Methylenetetrahydrofolate Reductase)
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MTHFR C677T
|
methotrexate • methotrexate IV
1year
Lack of Association of C677T Methylenetetrahydrofolate Reductase Polymorphism with Breast Cancer Risk in Mali. (PubMed, Genet Res (Camb))
The same trend was observed when the analysis was extended to other genetic models, including dominant (p = 0.50), recessive (p = 0.87), and additive (p = 0.50) models. The C677T polymorphism of MTHFR gene did not influence the risk of breast cancer in the Malian samples.
Journal
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MTHFR (Methylenetetrahydrofolate Reductase)
|
MTHFR C677T
1year
The effect of hereditary thrombotic factors and comorbidities on the severity of COVID-19 disease. (PubMed, Eur Rev Med Pharmacol Sci)
The presence of solid tumors in patients with COVID-19 was related to the severity of the disease course. No evidence of a correlation between the severity of the disease and all five thrombotic mutations was found, whereas the FII G20210A and Beta-fibrinogen G-455A mutations were significantly high compared to previously reported Turkish population data and global carrier rates. This finding will need to be verified by further studies with larger samples since it may reflect a likelihood of having the COVID-19 disease. The high carrier frequency of FVL mutation was more likely present in the D-dimer high group generating an increase in the D-dimer levels 2.55-times compared to the wildtype.
Journal
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MTHFR (Methylenetetrahydrofolate Reductase)
|
MTHFR C677T
over1year
Gene polymorphisms and risk of head and neck squamous cell carcinoma: a systematic review. (PubMed, Rep Pract Oncol Radiother)
Varied and contradictory results have been reported in different studies regarding the association of gene polymorphisms with HNSCC risk. To conclude about this association and to overcome these contradictions, it is necessary to use the results of existing meta-analyses or to perform new or updated meta-analyses.
Review • Journal
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ERCC1 (Excision repair cross-complementation group 1) • MTHFR (Methylenetetrahydrofolate Reductase) • GSTM1 (Glutathione S-transferase mu 1) • XRCC1 (X-Ray Repair Cross Complementing 1) • GSTT1 (Glutathione S-transferase theta 1) • XRCC3 (X-Ray Repair Cross Complementing 3)
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MTHFR C677T
over1year
Update meta-analysis from biomedical literature about MTHFR'polymorphisms and the CML' risk. (PubMed, Tunis Med)
The results of this meta-analysis suggested no significant association between C677T and A1298C polymorphisms and CML risk leading to consider other factors such us folic acid intake, gene-gene and gene- environment interactions.
Clinical • Retrospective data • Journal
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MTHFR (Methylenetetrahydrofolate Reductase)
|
MTHFR C677T
over1year
The Effect of Dietary Methyl-Donor Intake and Other Lifestyle Factors on Cancer Patients in Hungary. (PubMed, Cancers (Basel))
Our results suggest that the appropriate intake of methyl-donor can be an adjunct of conventional oncotherapy to improve quality of life. Whether methyl-donor intake supports cancer prevention and patient survival needs further confirmation in large patient cohorts.
Journal
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IL6 (Interleukin 6) • CXCL8 (Chemokine (C-X-C motif) ligand 8) • MTHFR (Methylenetetrahydrofolate Reductase)
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MTHFR C677T
almost2years
Gene-Gene Interaction Study Between Genetic Polymorphisms of Folate Metabolism and MTR SNPs on Prognostic Features Impact for Breast Cancer. (PubMed, Rep Biochem Mol Biol)
The combination of SNPs from MTHFR and MTR genes has a more synergistically genetic effect on BC disease progression. These SNPs could be used as tumor aggressiveness markers among Egyptian females with BC and could help in saving money and time.
Journal
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HER-2 (Human epidermal growth factor receptor 2) • ER (Estrogen receptor) • PGR (Progesterone receptor) • MTHFR (Methylenetetrahydrofolate Reductase)
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HER-2 expression • MTHFR C677T • PGR expression
almost2years
Genetic polymorphism in Methylenetetrahydrofolate Reductase chloride transport protein 6 (MTHFR CLCN6) gene is associated with keratinocyte skin cancer in a cohort of renal transplant recipients. (PubMed, Skin Health Dis)
While the exact function of CLCN6 is not known, it is proposed to be involved in folate availability. Future applications could include incorporation in a polygenic risk score for KC in RTRs to help identify those at increased risk beyond traditional risk factor assessment.
Journal
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MTHFR (Methylenetetrahydrofolate Reductase)
|
MTHFR C677T
almost2years
Pharmacokinetics and Hepatic Safety of EGCG (clinicaltrials.gov)
P1, N=36, Completed, Yale University | Recruiting --> Completed
Trial completion
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MTHFR (Methylenetetrahydrofolate Reductase)
|
MTHFR C677T
|
letrozole
almost2years
MTHFR POLYMORPHISMS ARE ASSOCIATED WITH DECREASED METHOTREXATE TOLERANCE IN PEDIATRIC ALL (ASPHO 2022)
MTHFR genotypes including homozygous C677T and compound heterozygous C677T/A1298C are associated with decreased tolerance to MTX and increased myelosuppression. Further exploration is needed to determine if reduced dosing of MTX is warranted to minimize toxicity.
Clinical
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MTHFR (Methylenetetrahydrofolate Reductase)
|
MTHFR C677T
|
methotrexate • methotrexate IV
2years
Dark Green Leafy Vegetable Intake, MTHFR Genotype, and Risk of Cutaneous Squamous Cell Carcinoma. (PubMed, Dermatology)
The protective effect of dark green leafy vegetables on cutaneous SCC may be genotype-dependent. Folate metabolism-related gene polymorphisms should be considered when assessing the relation of green leafy vegetables to cancer risk.
Journal
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MTHFR (Methylenetetrahydrofolate Reductase)
|
MTHFR C677T
over2years
Transmission Jeopardy of Adenomatosis Polyposis Coli and Methylenetetrahydrofolate Reductase in Colorectal Cancer. (PubMed, J Renin Angiotensin Aldosterone Syst)
The APC Asp 1822Val and MTHFR C677T genotypes provided significant results, while the variant alleles of this polymorphism were linked with an elevated risk of CRC. Chromosomal alterations can be the major cause in inducing carcinogenic outcomes in CRCs and can drive to extreme pathological states.
Journal
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MTHFR (Methylenetetrahydrofolate Reductase)
|
MTHFR C677T
over2years
Associations between methylenetetrahydrofolate reductase polymorphisms and hepatocellular carcinoma risk: An update meta-analysis and trial sequential analysis. (PubMed, Medicine (Baltimore))
The MTHFR rs1801133 SNP was associated with an increased risk of HCC in Mongoloid population especially in Chinese. Increased HCC risk is also observed in Caucasian population for the MTHFR rs1801131 SNP, and decreased risk of HCC is remarkably discovered in Mongoloid and Chinese subgroups, which need further validation.
Retrospective data • Journal
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MTHFR (Methylenetetrahydrofolate Reductase)
|
MTHFR C677T
over2years
Investigation on factors associated with ovarian cancer: an umbrella review of systematic review and meta-analyses. (PubMed, J Ovarian Res)
Some diseases, such as diabetes, endometriosis, and polycystic ovarian syndrome, as well as several genetic polymorphisms, cause a significant increase in ovarian cancer occurrence. Moreover, other factors, for instance, obesity, overweight, smoking, and perineal talc use, significantly increase the risk of ovarian cancer.
Review • Journal
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MTHFR (Methylenetetrahydrofolate Reductase)
|
MTHFR C677T
over2years
The influence of MTHFR genetic polymorphisms on methotrexate therapy in pediatric acute lymphoblastic leukemia. (PubMed, Open Life Sci)
Neither MTHFR C677T nor A1298C polymorphisms were significantly associated with delayed MTX clearance. To conclude, MTHFR polymorphisms were not good predictors of MTX-related toxicities.
Clinical • Journal
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MTHFR (Methylenetetrahydrofolate Reductase)
|
MTHFR C677T
|
methotrexate
over2years
MTHFR polymorphism as a predictive biomarker for gastrointestinal and hematological toxicity in North Indian adenocarcinoma patients. (PubMed, J Chemother)
Our results suggest that MTHFR polymorphisms are associated with hematological toxicity. MTHFR polymorphism might impact the development of pemetrexed and platinum-related toxicities but not as a clinical predictor of efficiency.
Clinical • Journal
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MTHFR (Methylenetetrahydrofolate Reductase)
|
MTHFR C677T
|
pemetrexed
over2years
Association between folate metabolism polymorphisms and breast cancer: a case-control study. (PubMed, Genet Mol Biol)
Women aged ≥50 years and those who are alcohol consumers had increased susceptibility to breast cancer, and MTHFR A1298C modulated the risk for this disease. This is the first study to evaluate the association between polymorphisms in folate metabolism and breast cancer in the northwest region of São Paulo State, Brazil.
Clinical • Journal
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MTHFR (Methylenetetrahydrofolate Reductase)
|
MTHFR C677T