HFE C282Y mutation as a genetic modifier influencing disease susceptibility for chronic myeloproliferative disease

Cancer Epidemiology Biomarkers and Prevention

Volumn 18, Issue 3, 2009, Pages 929-934

  Andrikovics, Hajnalka ^a,e   Meggyesi, Nora ^a   Szilvasi, Aniko ^a   Tamaska, Julia ^a   Halm, Gabriella ^a   Lueff, Sandor ^a   Nahajevszky, Sarolta ^a   Egyed, Miklos ^d   Varkonyi, Judit ^b   Mikala, Gabor ^a   Sipos, Andrea ^a   Kalasz, Laszlo ^c   Masszi, Tamas ^a   Tordai, Attila ^a  

^a Szent Laszlo Hospital   (Hungary)

^b SEMMELWEIS UNIVERSITY   (Hungary)

^c Hungarian National Blood Transfusion Service   (Hungary)

^d Kaposi Mor County Hospital   (Hungary)

^e National Blood Transfusion Service   (Hungary)

Author keywords

[No Author keywords available]

Indexed keywords

HEMOGLOBIN; HFE PROTEIN; JANUS KINASE 2; HFE PROTEIN, HUMAN; HLA ANTIGEN CLASS 1; MEMBRANE PROTEIN;

ADULT; AGED; ANEMIA; ARTICLE; BLOOD DONOR; CHRONIC DISEASE; CHRONIC MYELOPROLIFERATIVE DISEASE; CLINICAL FEATURE; COHORT ANALYSIS; CONTROLLED STUDY; DISEASE ASSOCIATION; DISEASE COURSE; DISEASE PREDISPOSITION; DNA MODIFICATION; FEMALE; GENE MUTATION; GENETIC VARIABILITY; GENOTYPE; HEREDITY; HIGH RISK PATIENT; HUMAN; IRON DEFICIENCY; IRON METABOLISM; MAJOR CLINICAL STUDY; MALE; MYELOPROLIFERATIVE DISORDER; PRIORITY JOURNAL; ADOLESCENT; CHI SQUARE DISTRIBUTION; GENETIC PREDISPOSITION; GENETICS; IRON OVERLOAD; MIDDLE AGED; MUTATION; NONPARAMETRIC TEST; SINGLE NUCLEOTIDE POLYMORPHISM; STATISTICAL MODEL;

ADOLESCENT; ADULT; AGED; AGED, 80 AND OVER; BLOOD DONORS; CHI-SQUARE DISTRIBUTION; FEMALE; GENETIC PREDISPOSITION TO DISEASE; GENOTYPE; HISTOCOMPATIBILITY ANTIGENS CLASS I; HUMANS; IRON OVERLOAD; JANUS KINASE 2; LOGISTIC MODELS; MALE; MEMBRANE PROTEINS; MIDDLE AGED; MUTATION; MYELOPROLIFERATIVE DISORDERS; POLYMORPHISM, SINGLE NUCLEOTIDE; STATISTICS, NONPARAMETRIC;

EID: 64549093397     PISSN: 10559965     EISSN: None     Source Type: Journal    
DOI: 10.1158/1055-9965.EPI-08-0359     Document Type: Article

References (46)

1. Huang X. Iron overload and its association with cancer risk in humans: evidence for iron as a carcinogenic metal. Mutat Res 2003;533:153-171 (Pubitemid 37487866)
2. Bulaj ZJ, Griffen LM, Jorde LB, Edwards CQ, Kushner JP. Clinical and biochemical abnormalities in people heterozygous for hemochromatosis. N Engl J Med 1996;335:1799-1805 (Pubitemid 26412398)
3. Beutler E, Felitti V, Gelbart T, Waalen J. Haematological effects of the C282Y HFE mutation in homozygous and heterozygous states among subjects of northern and southern European ancestry. Br J Haematol 2003;120:887-893 (Pubitemid 36315115)
4. Raddatz D, Legler T, Lynen R, Addicks N, Ramadori G. HFE genotype and parameters of iron metabolism in German first-time blood donors-evidence for an increased transferrin saturation in C282Y heterozygotes. Z Gastroenterol 2003;41:1069-1076 (Pubitemid 37489911)
5. Njajou OT, Houwing-Duistermaat JJ, Osborne RH, et al. A population-based study of the effect of the HFE C282Y and H63D mutations on iron metabolism. Eur J Hum Genet 2003;11:225-231 (Pubitemid 36511860)
6. Datz C, Haas T, Rinner H, Sandhofer F, Patsch W, Paulweber B. Heterozygosity for the C282Y mutation in the hemochromatosis gene is associated with increased serum iron, transferrin saturation, and hemoglobin in young women: a protective role against iron deficiency? Clin Chem 1998;44:2429-2432
7. Robinson JP, Johnson VL, Rogers PA, et al. Evidence for an association between compound heterozygosity for germ line mutations in the hemochromatosis (HFE) gene and increased risk of colorectal cancer. Cancer Epidemiol Biomarkers Prev 2005;14:1460-1463 (Pubitemid 40807346)
8. Shaheen NJ, Silverman LM, Keku T, et al.Asso ciation between hemochromatosis (HFE) gene mutation carrier status and the risk of colon cancer. J Natl Cancer Inst 2003;95:154-159 (Pubitemid 36193264)
9. Gunel-Ozcan A, Alyilmaz-Bekmez S, Guler EN, Guc D. HFE H63D mutation frequency shows an increase in Turkish women with breast cancer. BMC Cancer 2006;6:37.
10. Kallianpur AR, Hall LD, Yadav M, et al. Increased prevalence of the HFE C282Y hemochromatosis allele in women with breast cancer. Cancer Epidemiol Biomarkers Prev 2004;13:205-212 (Pubitemid 38222550)
11. Kondrashova TV, Neriishi K, Ban S, et al. Frequency of hemochromatosis gene (HFE) mutations in Russian healthy women and patients with estrogen-dependent cancers. Biochim Biophys Acta 2006;1762:59-65. (Pubitemid 43021087)
12. Dorak MT, Burnett AK, Worwood M. HFE gene mutations in susceptibility to childhood leukemia: HuGE review. Genet Med 2005;7:159-168 (Pubitemid 40478152)
13. Beckman LE, Van Landeghem GF, Sikstrom C, et al. Interaction between haemochromatosis and transferrin receptor genes in different neoplastic disorders. Carcinogenesis 1999;20:1231-1233 (Pubitemid 29341443)
14. Altes A, Gimferrer E, Capella G, Barcelo MJ, Baiget M. Colorectal cancer and HFE gene mutations. Haematologica 1999;84:479-480 (Pubitemid 29473150)
15. Macdonald GA, Tarish J, Whitehall VJ, et al. No evidence of increased risk for colorectal cancer in individuals heterozygous for the Cys282Tyr haemochromatosis mutation. J Gastroenterol Hepatol 1999;14:1188-1191 (Pubitemid 30032957)
16. McGlynn KA, Sakoda LC, Hu Y, et al. Hemochromatosis gene mutations and distal adenomatous colorectal polyps. Cancer Epidemiol Biomarkers Prev 2005;14:158-163 (Pubitemid 40165297)
17. van der A DL, van der Hel O, Roest M, et al. Heterozygosity for the Cys282Tyr mutation in the HFE gene and the risk of colorectal cancer (Netherlands). Cancer Causes Control 2003;14:541-545 (Pubitemid 36999969)
18. Abraham BK, Justenhoven C, Pesch B, et al. Investigation of genetic variants of genes of the hemochromatosis pathway and their role in breast cancer. Cancer Epidemiol Biomarkers Prev 2005;14:1102-1107 (Pubitemid 40656454)
19. Hannuksela J, Savolainen ER, Koistinen P, Parkkila S. Prevalence of HFE genotypes, C282Y and H63D, in patients with hematologic disorders. Haematologica 2002;87:131-135 (Pubitemid 34160618)
20. Barton JC, Bertoli LF, Acton RT. HFE C282Y and H63D in adults with malignancies in a community medical oncology practice. BMC Cancer 2004;4:6. (Pubitemid 38851367)
21. Franchini M, de Matteis G, Federici F, Solero P, Veneri D. An alysis of hemochromatosis gene mutations in 52 consecutive patients with polycythemia vera. Hematology 2004;9:413-414 (Pubitemid 40123593)
22. Baxter EJ, Scott LM, Campbell PJ, et al. Acquired mutation of the tyrosine kinase JAK2 in human myeloproliferative disorders. Lancet 2005;365:1054-1061 (Pubitemid 40386783)
23. James C, Ugo V, Le Couedic JP, et al. A unique clonal JAK2 mutation leading to constitutive signalling causes polycythaemia vera. Nature 2005;434:1144-1148 (Pubitemid 40663494)
24. Levine RL, Wadleigh M, Cools J, et al. Activating mutation in the tyrosine kinase JAK2 in polycythemia vera, essential thrombocythemia, and myeloid metaplasia with myelofibrosis. Cancer Cell 2005;7:387-397 (Pubitemid 40544655)
25. Kralovics R, Passamonti F, Buser AS, et al. A gain-of-function mutation of JAK2 in myeloproliferative disorders. N Engl J Med 2005;352:1779-1790 (Pubitemid 40570926)
26. Lichtman MA, Kipps TJ, Kaushansky K, editors. Williams Hematology. 7th ed. New York: McGraw-Hill; 2006.
27. Najean Y, Rain JD, Billotey C. Epidemiological data in polycythaemia vera: a study of 842 cases. Hematol Cell Ther 1998;40:159-165 (Pubitemid 28432315)
28. Merk K, Mattsson B, Mattsson A, Holm G, Gullbring B, Bjorkholm M. The incidence of cancer among blood donors. Int J Epidemiol 1990;19:505-509 (Pubitemid 20331791)
29. Campbell PJ, Scott LM, Buck G, et al. Definition of subtypes of essential thrombocythaemia and relation to polycythaemia vera based on JAK2 V617F mutation status: a prospective study. Lancet 2005;366:1945-1953 (Pubitemid 41713984)
30. Andrikovics H, Kalmar L, Bors A, et al. Genotype screening for hereditary hemochromatosis among voluntary blood donors in Hungary. Blood Cells Mol Dis 2001;27:334-341 (Pubitemid 32299789)
31. Dorak MT, Burnett AK, Worwood M, Sproul AM, Gibson BE. The C282Y mutation of HFE is another male-specific risk factor for childhood acute lymphoblastic leukemia. Blood 1999;94:3957.
32. Viola A, Pagano L, Laudati D, et al. HFE gene mutations in patients with acute leukemia. Leuk Lymphoma 2006;47:2331-2334 (Pubitemid 44768425)
33. Gimferrer E, Nomdedeu J, Gich I, Barcelo MJ, Baiget M. Prevalence of hemochromatosis related HFE gene mutations in patients with acute myeloid leukemia. Leuk Res 1999;23:597-598 (Pubitemid 29260959)
34. Ruiz-Arguelles GJ, Morales-Toquero A, Cruz-Dominguez G, et al. HFE-codon 63/282 (H63D/C282Y) gene variants in Mexican Mestizos are not risk factors for leukemia. Arch Med Res 2006;37:65-67 (Pubitemid 41727892)
35. Varkonyi J, Tarkovacs G, Karadi I, et al. High incidence of hemochromatosis gene mutations in the myelodysplastic syndrome: the Budapest Study on 50 patients. Acta Haematol 2003;109:64-67 (Pubitemid 36302347)
36. Speletas M, Kioumi A, Mandala E, et al. Prevalence of hemochromatosis gene (HFE) mutations in Greek patients with myelodysplastic syndromes. Acta Haematol 2003;110:53-54 (Pubitemid 37140409)
37. Van Landeghem GF, Beckman LE, Wahlin A, Markevarn B, Beckman L. Interaction between haemochromatosis and transferrin receptor genes in multiple myeloma. Lancet 1998;352:1285-1286 (Pubitemid 28470351)
38. Edgren G, Reilly M, Hjalgrim H, et al. Donation frequency, iron loss, nd risk of cancer among blood donors. J Natl Cancer Inst 2008;100:572-579
39. Rossi E, Bulsara MK, Olynyk JK, Cullen DJ, Summerville L, Powell LW. Effect of hemochromatosis genotype and lifestyle factors on iron and red cell indices in a community population. Clin Chem 2001;47:202-208 (Pubitemid 32142917)
40. Barton JC, Bertoli LF, Rothenberg BE. Peripheral blood erythrocyte parameters in hemochromatosis: evidence for increased erythrocyte hemoglobin content. J Lab Clin Med 2000;135:96-104. (Pubitemid 30042159)
41. McLaren CE, Barton JC, Gordeuk VR, et al. Determinants and characteristics of mean corpuscular volume and hemoglobin concentration in white HFE C282Y homozygotes in the hemochromatosis and iron overload screening study. Am J Hematol 2007;82:898-905. (Pubitemid 47502695)
42. Jones AV, Kreil S, Zoi K, et al. Widespread occurrence of the JAK2 V617F mutation in chronic myeloproliferative disorders.Blood 2005;106:2162-2168
43. Jelinek J, Oki Y, Gharibyan V, et al. JAK 2 mutation 1849G >T is rare in acute leukemias but can be found in CMML, Philadelphia chromosome-negative CML, and megakaryocytic leukemia. Blood 2005;106:3370-3373
44. Ridell B, Carneskog J, Wedel H, et al. Incidence of chronic myeloproliferative disorders in the city of Goteborg, Sweden 1983-1992. Eur J Haematol 2000;65:267-271
45. Speletas M, Katodritou E, Daiou C, et al. Correlations of JAK2-617F mutation with clinical and laboratory findings in patients with myeloproliferative disorders. Leuk Res 2007;31:1053-1062 (Pubitemid 46873720)
46. Cheung B, Radia D, Pantelidis P, Yadegarfar G, Harrison C. The presence of the JAK2 V617F mutation is associated with a higher haemoglobin and increased risk of thrombosis in essential thrombocythaemia. Br J Haematol 2006;132:244-245 (Pubitemid 43381559)