The 19-bp deletion of dihydrofolate reductase (DHFR), methylenetetrahydrofolate reductase (MTHFR) C677T, Factor V Leiden, prothrombin G20210A polymorphisms in cancer patients with and without thrombosis

Eroğlu, Aydan; Eğin, Yonca; Çam, Ragıp; Akar, Nejat

doi:10.1007/s00277-008-0569-6

Cited by 22 publications

(22 citation statements)

References 13 publications

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“…In 2009, Eroglu et al [9] revealed similar findings. The previous observations could be explained by the fact Thrombophilic gene mutations in cancer Wahba et al 311 that the prevalence of FVL mutation is high among the Turkish population [19].…”

Section: Discussionsupporting

confidence: 65%

“…This was proved by other investigators [3,8,9,15,19,20,22]. Although it was reported before that PTH G20210A gene mutation appeared to be a risk factor for thrombosis among patients with nonhematological malignancy.…”

Section: Discussionmentioning

confidence: 58%

“…Also, it was detected in 53.1 and 60.5% in cancer patients with and without VTE, respectively [8]. Several past studies also did not prove an association between MTHFR C677T and the risk of VTE in cancer patients [9,24]. Recently, it was demonstrated that no interaction was found between prostate cancer and the MTHFR variant in the Iranian population [25].…”

Section: Discussionmentioning

confidence: 94%

“…However, the contribution of gene abnormalities to thrombotic tendency in cancer patients has conflicting results [9,10].…”

Section: Introductionmentioning

confidence: 99%

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Impact of thrombophilic genes mutations on thrombosis risk in Egyptian nonmetastatic cancer patients

Wahba

Ismail²,

Saad³

et al. 2015

Blood Coagulation &Amp; Fibrinolysis

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Venous thromboembolism (VTE) is a common complication in cancer patients. Several genetic risk factors related to thrombophilia are known; however, their contributions to thrombotic tendency in cancer patients have conflicting results. We aimed to determine the prevalence of factor V Leiden (FVL), prothrombin (PTH) G20210A and methylene tetrahydrofolate reductase (MTHFR) C677T gene polymorphisms in Egyptian nonmetastatic cancer patients and their influence on thrombosis risk in those patients. Factor V Leiden, PTH G20210A and MTHFR C677T polymorphisms were detected in 40 cancer patients with VTE (group 1) and 40 cancer patients with no evidence of VTE (group 2) by PCR-based DNA analysis. Factor V and MTHFR mutations were higher in group 1 than in group 2 (factor V heterozygous mutation: 20 vs. 7.5%, homozygous mutation: 10 vs. 2.5%; MTHFR heterozygous mutation: 40 vs. 25%, homozygous mutation 5 vs. 0%, respectively) (P = 0.03). Mortality rate was higher in group 1 (75%) than in group 2 (25%; P < 0.001). No difference was found between those groups regarding PTH mutation (P = 1). Mortality rate was higher in the presence of homozygous and heterozygous factor V mutation (100 and 82%, respectively) compared to the wild type (41%) (P = 0.0006). Having any of the three studied gene mutations worsened the overall survival (P = 0.0003). Cox regression proved that both thrombosis and presence of factor V mutation are independent factors affecting survival in cancer patients (P < 0.001 and P = 0.01, respectively). In conclusion, there is an association between factor V and MTHFR mutations and risk of VTE in Egyptian cancer patients. Thrombosis and presence of factor V mutation are independent factors that influence survival in those patients.

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Section: Discussionsupporting

confidence: 65%

Section: Discussionmentioning

confidence: 58%

Section: Discussionmentioning

confidence: 94%

“…However, the contribution of gene abnormalities to thrombotic tendency in cancer patients has conflicting results [9,10].…”

Section: Introductionmentioning

confidence: 99%

See 2 more Smart Citations

Impact of thrombophilic genes mutations on thrombosis risk in Egyptian nonmetastatic cancer patients

Wahba

Ismail²,

Saad³

et al. 2015

Blood Coagulation &Amp; Fibrinolysis

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“…A C-T polymorphism at nucleotide 677 in the MTHFR gene leads to increased levels of homocysteine, which is a risk factor for thrombosis (8). The other most extensively investigated thrombosis-related factors are FVL and PTH.…”

Section: Introductionmentioning

confidence: 99%

Risk of prostate cancer and thrombosis-related factor polymorphisms

Ghasemi¹,

Tavakoli²,

Moghadam

et al. 2013

Biomedical Reports

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Venous thromboembolism (VTE) is a complication commonly encountered in cancer patients and is considered to be a major cause of morbidity and mortality. The genetic polymorphisms of thrombophilic factors in cancer patients have been focused on during the last few years. However, the number of available studies on the association between prostate cancer and thromboembolic diseases is limited. Prostate cancer is one of the four major types of cancer and its development is affected by a variety of environmental and genetic factors. In the present study we aimed to focus on the effects of thromboembolic factor gene variations on the risk of prostate cancer. In order to conduct our prospective study, we used amplification-refractory mutation system-polymerase chain reaction to investigate three polymorphisms [factor V Leiden (FVL) G1691A, factor II (prothrombin, PTH) G20210A and methylenetetrahydrofolate reductase (MTHFR) C677T] in prostate cancer patients, via comparison with normal individuals. The results demonstrated no significant differences in FVL and PTH gene variations between cases and controls (P>0.05). Although some cases with the T allele of MTHFR 677 were identified, no significant solidarity was established by statistical analysis (P>0.05). Therefore, non-genetic factors that may disturb homeostatic balance should also be considered in future studies, in order to determine the exact association between VTE and prostate cancer.

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Inherited thrombophilia gene mutations and risk of venous thromboembolism in patients with cancer: A systematic review and meta‐analysis

Roy,

Wang,

Lun

et al. 2024

American J Hematol

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In the general population, individuals with an inherited thrombophilia have a higher risk of thrombosis, but the effect of inherited thrombophilia on the risk of cancer‐associated venous thromboembolism (VTE) remains controversial. Our objective was to determine the risk of VTE in cancer patients with inherited thrombophilia. We conducted a systematic review and meta‐analysis of studies reporting on VTE after a cancer diagnosis in adult patients who were tested for inherited thrombophilia. In September 2022, we searched Medline, EMBASE, and Cochrane Central. Two reviewers screened the abstracts/full texts and assessed study quality using the Quality in Prognostic Studies tool. We used Mantel–Haenszel random‐effects models to estimate pooled odds ratios (OR) of VTE and 95% confidence intervals (95%CI). We included 37 and 28 studies in the systematic review and meta‐analysis, respectively. Most studies focused on specific cancer types and hematologic malignancies were rare. The risk of VTE was significantly higher in cancer patients with non‐O (compared with O) blood types (OR: 1.56 [95% CI: 1.28–1.90]), Factor V Leiden, and Prothrombin Factor II G20210A mutations compared with wild types (OR: 2.28 [95% CI: 1.51–3.48] and 2.14 [95% CI: 1.14–4.03], respectively). Additionally, heterozygous and homozygous methylenetetrahydrofolate reductase C677T had ORs of 1.50 (95% CI: 1.00–2.24) and 1.38 (95% CI: 0.87–2.22), respectively. Among those with Plasminogen‐Activator Inhibitor‐1 4G/5G, Vascular Endothelial Growth Factor (VEGF) A C634G, and VEGF C2578A mutations, there was no significant association with VTE. In conclusion, this meta‐analysis provided evidence that non‐O blood types, Factor V Leiden, and Prothrombin Factor II G20210A mutations are important genetic risk factors for VTE in cancer patients.

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The 19-bp deletion of dihydrofolate reductase (DHFR), methylenetetrahydrofolate reductase (MTHFR) C677T, Factor V Leiden, prothrombin G20210A polymorphisms in cancer patients with and without thrombosis

Cited by 22 publications

References 13 publications

Impact of thrombophilic genes mutations on thrombosis risk in Egyptian nonmetastatic cancer patients

Impact of thrombophilic genes mutations on thrombosis risk in Egyptian nonmetastatic cancer patients

Risk of prostate cancer and thrombosis-related factor polymorphisms

Inherited thrombophilia gene mutations and risk of venous thromboembolism in patients with cancer: A systematic review and meta‐analysis

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