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

Barton, James C.; Bertoli, Luigi F.; Acton, Ronald T.

doi:10.1186/1471-2407-4-6

Cited by 18 publications

(13 citation statements)

References 56 publications

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“…C282Y mutation carrier rate was not significantly elevated in ET patients (16.2%), compared with controls (10.2%). Barton et al (20) evaluated 100 consecutive unrelated Caucasian adults with malignancy in a community medical oncology (21) found similar HFE allele frequencies (2.2% for C282Y and 11.5% for H63D) among 52 patients with PV to that found in a previous study reporting on normal Italian population. In contrast to previous HFE epidemiologic studies, where HFE C282Y or H63D were found to be a potential risk factor in carcinogenesis, in the present study, decreased C282Y allele frequencies were found in a large CMPD patient cohort compared with healthy blood donors.…”

Section: Discussionsupporting

confidence: 61%

“…The S142G variant of TFR was reported to influence cancer susceptibility (colon, breast, myeloma) in combination with distinct HFE genotypes (13). The effects of iron homeostasis, and HFE and TFR genotypes were extensively studied in several solid tumors even in large patient cohorts (7)(8)(9)(10)(11)(12)(14)(15)(16)(17)(18)), but only a few studies with small patient cohorts tested the potential role of HFE in chronic myeloproliferative disorders (CMPD), a clonal disorder of the main iron using tissue of the body (19)(20)(21).…”

Section: Introductionmentioning

confidence: 99%

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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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Section: Discussionsupporting

confidence: 61%

Section: Introductionmentioning

confidence: 99%

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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“…1,19,26,[31][32][33][34][35] Patients with hemachromatosis have an increased incidence of cirrhosis, hepatocellular carcinoma and some other malignancies. [35][36][37][38][39][40] Similarly, CLD is one of the major long-term complications in HSCT survivors. Whereas Strasser et al, 4 reported a cumulative incidence of CLD in 3.8% by 20 years after transplantation in a series of 3721 patients, Tomas et al, 6 reported CLD in 57.5% of their cohort of 106 patients in 2 years follow-up, which strongly correlated with siderosis.…”

Section: Discussionmentioning

confidence: 99%

The role of liver biopsy in the workup of liver dysfunction late after SCT: is the role of iron overload underestimated?

Sucak

Yeğin

Özkurt

et al. 2008

Bone Marrow Transplant

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Abnormalities in liver function tests are common in hematopoietic SCT (HSCT) recipients. We retrospectively investigated the role of liver biopsy in determining the cause of elevated liver enzymes and its impact on the management of patients in the post-HSCT setting. A total of 24 consecutive liver biopsies were obtained from 20 patients from September 2003 to December 2007. A definite histopathologic diagnosis was obtained in 91.7% of the biopsies. Iron overload (IO) was found in 75% and GVHD in 54.2% of the patients. The initial clinical diagnosis of GVHD was confirmed in 56.5% and refuted in 43.5% of the allogeneic HSCT recipients. The median number of post transplant transfusions, percent transferrin saturation and ferritin levels were found to be higher in patients who had histologically proven hepatic IO (p1 ¼ 0.007, p2 ¼ 0.003 and p3 ¼ 0.009, respectively). Regression analysis showed a significant correlation between serum ferritin levels and histological grade of iron in the hepatocytes. Our data suggest that hepatic IO is a frequent finding in the post-HSCT setting, which contributes to hepatic dysfunction and it should be considered in the differential diagnosis, particularly in patients with high serum ferritin levels.

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“…33,34 Given that the frequencies of the alleles in the Jewish population are in Hardy-Weinberg equilibrium, double heterozygosity for H63D and ␤-thalassemia is expected in more than 1/200 individuals from these ethnic groups, and homozygosity for the first, with heterozygosity for the second, is expected in more than 1/3200 individuals from these groups. In view of side effects associated with iron overload, such as hepatocellular carcinoma, 35 other cancers, 36 and immunodeficiency, 37 iron body stores should be assessed and genetic evaluation performed in these Jewish populations when required. This information has significance for preventive and personalized medicine.…”

Section: Discussionmentioning

confidence: 99%

Frequencies of C282Y and H63D alleles in the HFE gene among various Jewish ethnic groups in Israel: A change of concept required

Reish

Shefer-Kaufmann

Shimshoni

et al. 2010

Genetics in Medicine

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

Abstract: Background: We sought to compare frequencies of HFE C282Y and H63D alleles and associated odds ratios (OR) in 100 consecutive unrelated white adults with malignancy to those in 318 controls.

Cited by 18 publications

References 56 publications

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

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

The role of liver biopsy in the workup of liver dysfunction late after SCT: is the role of iron overload underestimated?

Frequencies of C282Y and H63D alleles in the HFE gene among various Jewish ethnic groups in Israel: A change of concept required

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