HFE H63D mutation frequency shows an increase in Turkish women with breast cancer

BMC Cancer

Volumn 6, Issue , 2006, Pages

  Gunel Ozcan, Aysen ^a   Alyilmaz Bekmez, Sibel ^a   Guler, Emine Nilufer ^b   Guc, Dicle ^b  

^a KIRIKKALE UNIVERSITY   (Turkey)

^b HACETTEPE UNIVERSITY   (Turkey)

Author keywords

[No Author keywords available]

Indexed keywords

HFE PROTEIN; DNA; HFE PROTEIN, HUMAN; HLA ANTIGEN CLASS 1; MEMBRANE PROTEIN; RESTRICTION ENDONUCLEASE;

ADULT; AGED; ARTICLE; BREAST CANCER; CLINICAL ARTICLE; CONFIDENCE INTERVAL; CONTROLLED STUDY; FEMALE; GENE FREQUENCY; GENE MUTATION; GENETIC ASSOCIATION; GENETIC VARIABILITY; HETEROZYGOSITY; HUMAN; NUCLEOTIDE SEQUENCE; PHENOTYPE; POLYMERASE CHAIN REACTION; RESTRICTION FRAGMENT LENGTH POLYMORPHISM; STATISTICAL ANALYSIS; TURKEY (REPUBLIC); VOLUNTEER; BREAST TUMOR; CASE CONTROL STUDY; CHEMISTRY; GENE EXPRESSION REGULATION; GENETICS; HETEROZYGOTE; HOMOZYGOTE; METABOLISM; MIDDLE AGED; MOLECULAR WEIGHT; MUTATION; RISK; STATISTICAL MODEL;

ADULT; AGED; BREAST NEOPLASMS; CASE-CONTROL STUDIES; DNA; DNA MUTATIONAL ANALYSIS; DNA RESTRICTION ENZYMES; FEMALE; GENE EXPRESSION REGULATION, NEOPLASTIC; HETEROZYGOTE; HISTOCOMPATIBILITY ANTIGENS CLASS I; HOMOZYGOTE; HUMANS; MEMBRANE PROTEINS; MIDDLE AGED; MODELS, STATISTICAL; MOLECULAR WEIGHT; MUTATION; ODDS RATIO; PHENOTYPE; POLYMERASE CHAIN REACTION; POLYMORPHISM, RESTRICTION FRAGMENT LENGTH; TURKEY;

EID: 33645032772     PISSN: 14712407     EISSN: 14712407     Source Type: Journal    
DOI: 10.1186/1471-2407-6-37     Document Type: Article

References (46)

1. Feder JN, Gnirke A, Thomas W, Tsuchihashi Z, Ruddy DA, Basava A, Dormishian F, Domingo R Jr, Ellis MC, Fullan A, Hinton LM, Jones NL, Kimmel BE, Kronmal GS, Lauer P, Lee VK, Loeb DB, Mapa FA, McClelland E, Meyer NC, Mintier GA, Moeller N, Moore T, Morikang E, Prass CE, Quintana L, Starnes SM, Schatzman RC, Brunke KJ, Drayna DT, Risch NJ, Bacon BR, Wolff RK: A novel MHC class 1-like gene is mutated in patients with hereditary haemochromatosis. Nat Genet 1996, 13:399-408.
2. Beutler L, Beutler E: Hematologically important mutations: iron storage diseases. Blood Cells Mol Dis 2004, 33:40-44.
3. Feder JN, Penny DM, Irrinki A, Lee VK, Lebron JA, Watson N, Tsuchihashi Z, Sigal E, Bjorkman PJ, Schatzman RC: The hemochromatosis gene product complexes with the transferrin receptor and lowers its affinity for ligand binding. Proc Natl Acad Sci USA 1998, 95:1472-1477.
4. 2-microglobulin interaction and cell surface expression. J Biol Chem 1997, 272:14025-14028.
5. Beutler E: The significance of the 187G (H63D) mutation in hemochromatosis. Am J Hum Genet 1997, 61:762-764.
6. Fairbanks VF, Brandhagen DJ, Thibodeau SN, Snow K, Wollan PC: H63D is an haemochromatosis associated allele. Gut 1998, 43:441-442.
7. Waheed A, Parkkila S, Zhou XY, Tomatsu S, Tsuchihashi Z, Feder JN, Schatzman RC, Britton RS, Bacon BR, Sly WS: Hereditary hemochromatosis: effects of C282Y and H63D mutations on association with beta2-microglobulin, intracellular processing, and cell surface expression of the HFE protein in COS-7 cells. Proc Natl Acad Sci USA 1997, 94:12384-12389.
8. Beutler E, Gelbart T, West C, Lee P, Adams M, Blackstone R, Pockros P, Kosty M, Venditti CP, Phatak PD, Seese NK, Chorney KA, Ten Elshof AE, Gerhard GS, Chorney M: Mutation analysis in hereditary hemochromatosis. Blood Cells Mol Dis 1996, 22:187-194.
9. Hanson EH, Imperatore G, Burke W: HFE gene and Hereditary Hemochromatosis: a HuGE review. Human Genome Epidemiology. Am J Epidemiol 2001, 154:193-206.
10. Hellerbrand C, Poppl A, Hartmann A, Scholmerich J, Lock G: HFE C282Y heterozygosity in hepatocellular carcinoma: evidence for an increased prevalence. Clin Gastroenterol Hepatol 2003, 1:279-284.
11. Cauza E, Peck-Radosavljevic M, Ulrich-Pur H, Datz C, Gschwantler M, Schoniger-Hekele M, Hackl F, Polli C, Rasoul-Rockenschaub S, Muller C, Wrba F, Gangl A, Ferenci P: Mutations of the HFE gene in patients with hepatocellular carcinoma. Am J Gastroenterol 2003, 98:442-447.
12. 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.
13. 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, 94:3957-3958.
14. Dorak MT, Burnett AK, Worwood M: HFE gene mutations in susceptibility to childhood leukemia: HuGE review. Genet Med 2005, 7:159-167.
15. Beckman LE, Van Landeghem GF, Sikström C, Wahlin A, Markevarn B, Hallmans G, Lenner P, Athlin L, Stenling R, Beckman L: Interaction between haemochromatosis and transferrin receptor genes in different neoplastic disorders. Carcinogenesis 1999, 20:1231-1233.
16. Altes A, Gimferrer E, Capella G, Barcelo MJ, Baiget M: Colorectal cancer and HFE gene mutations. Haematologica 1999, 84:479-480.
17. Robinson JP, Johnson VL, Rogers PA, Houlston RS, Maher ER, Bishop DT, Evans DG, Thomas HJ, Tomlinson IP, Silver AR: Evidence for association between compound heterozygosity for germ line mutations in the hemochromatosis (HFE) gene and increased risk colorectal cancer. Cancer Epidemiol Biomarkers Prev 2005, 14:1460-1463.
18. Kallianpur AR, Hall LD, Yadav M, Christman BW, Dittus RS, Haines JL, Parl FF, Summar ML: Increased Prevalence of the HFE C282Y Hemochromatosis Allele in Women with Breast Cancer. Cancer Epidemiol Biomarkers Prev 2004, 13:205-212.
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.
20. van der ADL, van der Hel O, Roest M, van der Shouw YT, van Gils CH, Marx JJ, van Noord PA, Peeters PH: Heterozygosity for the Cys282Tyr mutation in the HFE gene and the risk of colorectal cancer (Netherlands). Cancer Causes Control 2003, 14:541-545.
21. Dorak MT, Burnett AK, Worwood M: Hemochromatosis gene in leukemia and lymphoma. Leuk Lymphoma 2002, 43:467-477.
22. Abraham BK, Justenhoven C, Pesch B, Harth V, Weirich G, Baisch C, Rabstein S, Ko YD, Bruning T, Fischer HP, Haas S, Brod S, Oberkanins C, Hamann U, Brauch H, GENICA Network: Investigation of genetic variants of genes of the hemochromatosis pathway and their role in breast cancer. Cancer Epidemiol Biomarkers Prev 2005, 14:1102-1107.
23. Nunoshiba T, Obata F, Boss AC, Oikawa S, Mori T, Kawanishi S, Yamamoto K: Role of iron and superoxide for generation of hydroxyl radical, oxidative DNA lesions, and mutagenesis in Escherichia coli. J Biol Chem 1999, 274:34832-34837.
24. Sarkar B: Metal replacement in DNA-binding zinc finger proteins and its relevance to mutagenicity and carcinogenicity through free radical generation. Nutrition 1995, 11:646-649.
25. de Sousa M: Immune cell functions in iron overload. Clin Exp Immunol 1989, 75:1-6.
26. Green R, Esparza I, Schreiber R: Iron inhibits the non-specific tumoricidal activity of macrophages: a possible contributory mechanism for neoplasia in hemochromatosis. Ann N Y Acad Sci 1988, 526:301-309.
27. Bergeron RJ, Streiff RR, Elliot GT: Influence of iron on in vivo proliferation and lethality of L 1210 cells. J Nutr 1985, 115:369-374.
28. Koeken A, Cobbaert C, Quint W, van Doorn LJ: Genotyping of hemochromatosis-associated mutations in the HFE gene by PCR-RFLP and a novel reverse hybridization method. Clin Chem Lab Med 2002, 40(2):122-125.
29. Merryweather-Clarke AT, Pointon JJ, Shearman JD, Robson KJ: Global prevalence of putative haemochromatosis mutations. J Med Genet 1997, 34:275-278.
30. Bozkaya H, Bektas M, Metin O, Erkan O, Ibrahimoglu D, Dalva K, Akbiyik F, Gurel S, Bozdayi AM, Akay C, Yurdaydin C, Aslan O, Uzunalimoglu O: Screening for hemochromatosis in Turkey. Dig Dis Sci 2004, 49:444-449.
31. Simsek H, Sumer H, Yilmaz E, Balaban YH, Ozcebe O, Hascelik G, Buyukask Y, Tatar G: Frequency of HFE mutations among Turkish blood donors according to transferrin saturation: genotype screening for hereditary hemochromatosis among voluntary blood donors in Turkey. J Clin Gastroenterol 2004, 38:671-675.
32. Liehr JG, Jones JS.: Role of iron in estrogen-induced cancer. Curr Med Chem 2001, 8:839-849.
33. Malins DC, Polissar NL, Gunselman SJ: Progression of human breast cancer to the metastatic state is linked to hydroxyl radical-induced DNA damage. Proc Natl Acad Sci USA 1996, 93:2557-2563.
34. Kondrashova TV, Neriishi K, Ban S, Ivanova TI, Krikunova LI, Shentereva NI, Smirnova IA, Zharikova IA, Konova MV, Taira S, Tsyb AF: Frequency of hemochromatosis gene (HFE) mutations in Russian healthy women and patients with estrogen-dependent cancers. Biochim Biophys Acta 2005, 1762(1):59-65.
35. Syrjakoski KFH, Ikonen T, Kuukasjarvi T, Autio V, Matikainen MP, Tammela TLJ, Koivisto PA, Schleutker J: Hemochromatosis gene mutations among Finnish male breast and prostate cancer patients. Int J Cancer 2006, 118:518-520.
36. Adams PC, Reboussin DM, Barton JC, McLaren CE, Eckfeldt JH, McLaren GD, Dawkins FW, Acton RT, Harris EL, Gordeuk VR, Leiendecker-Foster C, Speechley M, Snively BM, Holup JL, Thomson E, Sholinsky P: Hemochromatosis and iron-overload screening in a racially diverse population. N Engl J Med 2005, 352:1769-1778.
37. Martinez di Montemuros F, Tavazzi D, Salsano E, Piepoli T, Pollo B, Fiorelli G, Finocchiaro G: High frequency of the H63D mutation of the hemochromatosis gene (HFE) in malignant gliomas. Neurology 2001, 57:1342.
38. Tomatsu S, Orii KO, Fleming RE, Holden CC, Waheed A, Britton RS, Gutierrez MA, Velez-Castrillon S, Bacon BR, Sly WS: Contribution of the H63D mutation in HFE to murine hereditary hemochromatosis. Proc Natl Acad Sci USA 2003, 100:15788-15793.
39. Whitfield JB, Cullen LM, Jazwinska EC, Powell LW, Heath AC, Zhu G, Duffy DL, Martin NG: Effects of HFE C282Y and H63D polymorphisms and polygenic background on iron stores in a large community sample of twins. Am J Hum Genet 2000, 66:1246-1258.
40. Beutler E, Felitti VJ, Koziol JA, Ho NJ, Gelbart T: Penetrance of 845G-> A (C282Y) HFE hereditary haemochromatosis mutation in the USA. Lancet 2002, 359:211-218.
41. Jackson H, Carter K, Darke C, Guttridge MG, Ravine D, Hutton RD, Napier JA, Worwood M: HFE mutations, iron deficiency and overload in 10,500 blood donors. Br J Haematol 2001, 114:474-484.
42. Burke W, Imperatore G, McDonnell SM, Baron RC, Khoury MJ: Contribution of different HFE genotypes to iron overload disease: a pooled analysis. Genet Med 2000, 2:271-277.
43. Porto G, Alves H, Rodrigues P, Cabeda JM, Portal C, Ruivo A, Justica B, Wolff R, de Sousa M: Major histocompatibility complex class 1 associations in iron overload: evidence for a new link between the HFE H63D mutation, HLA-A29, and non-classical forms of hemochromatosis. Immunogenetics 1998, 47:404-410.
44. Cardoso CS, Alves H, Mascarenhas M, Goncalves R, Oliveira P, Rodrigues P, Cruz E, de Sousa M, Porto G: Co-selection of the H63D mutation and the HLA-29 allele: a new paradigm of linkage disequilibrium? Immunogenetics 2002, 53:1002-1008.
45. de Jong M, Nolte IM, de Vries EGE, Schaapveld M, Kleibeuker JH, Oosterom E, Oosterwijk JC, van der Hout AH, van der Steege G, Bruinenberg M, Boezen HM, Te Meerman GJ, van der Graaf WT: The HLA class III subregion is responsible for an increased breast cancer risk. Hum Mol Gen 2003, 12:2311-2319.
46. Cruz E, Vieira J, Gonçalves R, Alves H, Almeida S, Rodrigues P, Lacerda R, Porto G: Involvement of the Major Histocompatibility Complex region in the genetic regulation of circulating CD8+ T-cell numbers in humans. Tissue Antigens 2004, 64:25-34.