Prevalence of Hemochromatosis Gene &lt;i&gt;(HFE)&lt;/i&gt; Mutations in Greek Patients with Myelodysplastic Syndromes

Speletas, Matthaios; Kioumi, Anna; Μανδαλά, Ευδοκία; Katodritou, Eirini; Papaioannou, Georgia; Ritis, Konstantinos; Korantzis, Ioannis

doi:10.1159/000072419

Cited by 8 publications

(5 citation statements)

References 12 publications

(18 reference statements)

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“…HFE allele frequencies in the present patients with myelodysplasia were similar to those in control subjects, consistent with previous reports [11-13,27]. In contrast, C282Y and H63D frequencies were greater in Hungarian patients with myelodysplasia than in corresponding control subjects in whom HFE mutation frequencies are lower than those typically observed in western regions of Europe [28,29].…”

Section: Resultssupporting

confidence: 91%

“…There are also reports of the frequencies of C282Y and H63D in adults with common types of malignancy, including plasma cell myeloma [10], myelodysplasia [11-13], acute non-lymphoblastic leukemia [14], and colon or rectal cancer [10,15], and in women with breast cancer [10]. In patients with many other types of malignancy, however, there are no reports of C282Y or H63D association.…”

Section: Introductionmentioning

confidence: 99%

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HFE C282Y and H63D in adults with malignancies in a community medical oncology practice

Barton

Bertoli²,

Acton

2004

BMC Cancer

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Section: Resultssupporting

confidence: 91%

Section: Introductionmentioning

confidence: 99%

HFE C282Y and H63D in adults with malignancies in a community medical oncology practice

Barton

Bertoli²,

Acton

2004

BMC Cancer

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“…In other published reports with small acute lymphoblastic leukemia and acute myelogenous leukemia patient cohorts, increased C282Y or H63D frequency could not be shown (19,33,34). Our group found elevated HFE mutation frequencies in Hungarian patients with myelodysplastic syndrome (35), but this finding could not be replicated in Greece (36). Beckman (13) and Van Landeghem et al (37) found no association for HFE and TFR separately, but significant interactions were reported between HFE C282Y and TFR S142G in multiple myeloma, breast, colorectal, and liver cancers.…”

Section: Discussioncontrasting

confidence: 70%

HFEC282Y Mutation as a Genetic Modifier Influencing Disease Susceptibility for Chronic Myeloproliferative Disease

Andrikovics

Meggyesi

Szilvási

et al. 2009

Cancer Epidemiology, Biomarkers &Amp; Prevention

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Iron metabolism has been implicated in carcinogenesis and several studies assessed the potential role of genetic variants of proteins involved in iron metabolism (HFE C282Y, TFR S142G) in different malignancies. Few reports addressed this issue with relation to chronic myeloproliferative disorders (CMPD). The aims of our study were (a) to examine the potential associations of CMPD development with genetic modifiers of iron metabolism in a large cohort of CMPD patients; (b) to examine associations of genetic variants of proteins involved in iron metabolism; and acquired JAK2 V617F mutation with clinical characteristics of CMPD. HFE C282Y was genotyped in 328 CMPD patients and 996 blood donors as controls, HFE H63D, and TFR S142G were tested in CMPD patients and 171 first time blood donors. JAK2 V617F mutation was tested in CMPD patients and in 122 repeated blood donors. Decreased C282Y allele frequency (allele frequency F 95% confidence interval) was found in the CMPD group (1.8% F 1.0%) compared with controls (3.4% F 0.8%; P = 0.048). TFR S142G allele frequency was reduced among V617F-negative CMPD patients (34.8% F7.6%) compared with controls (47.8% F 5.4%; P = 0.02). The frequency of JAK2 V617F was 75.9% (249 of 328) in the CMPD group. At presentation, elevated hemoglobin levels were found in V617F-positive patients compared with V617F-negative counterparts (P < 0.000). Vascular complications (26.6% versus 15.2%; P = 0.039) as well as female gender (57.4% versus 41.8%; P = 0.019) were more common in V617F-positive patients. We found that HFE C282Y might be associated with a protective role against CMPD. Because chronic iron deficiency or latent anemia may trigger disease susceptibility for CMPD, HFE C282Y positivity may be a genetic factor influencing this effect. (Cancer Epidemiol Biomarkers Prev 2009;18(3):929 -34)

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“…147 In the breast cancer study performed in Tennessee, the cases included patients with hematologic malignancies transplanted in the same center. 136 The C282Y frequency in this subset was 17.0% (n ϭ 129) compared with local (12.7%, n ϭ 118) and national (12.4%, n ϭ 2016) mutation frequencies, which appears to be increased.…”

Section: Association Of Iron Levels With Cancermentioning

confidence: 99%

HFE gene mutations in susceptibility to childhood leukemia: HuGE review

Dorak

Burnett

Worwood

2005

Genetics in Medicine

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The hereditary hemochromatosis (HHC) gene, HFE on chromosome 6p21.3, encodes a protein involved in iron homeostasis. HFE mutations have low penetrance with a mild effect on serum iron levels. Animal, twin, and population studies have shown that carrier state for C282Y can increase iron levels. A proportion of heterozygotes show slightly elevated serum iron levels. Increased serum iron has been suggested to increase the risk for oxidative damage to DNA. Epidemiologic studies established a correlation between iron levels and cancer risk.Case-control studies have reported associations between HFE mutations C282Y/H63D and several cancers, some of which in interaction with the transferrin receptor gene TFRC or dietary iron intake. Increased cancer risk in C282Y carriers is likely due to higher iron levels in a multifactorial setting. In childhood acute lymphoblastic leukemia

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Prevalence of Hemochromatosis Gene <i>(HFE)</i> Mutations in Greek Patients with Myelodysplastic Syndromes

Cited by 8 publications

References 12 publications

HFE C282Y and H63D in adults with malignancies in a community medical oncology practice

HFE C282Y and H63D in adults with malignancies in a community medical oncology practice

HFEC282Y Mutation as a Genetic Modifier Influencing Disease Susceptibility for Chronic Myeloproliferative Disease

HFE gene mutations in susceptibility to childhood leukemia: HuGE review

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