Methyl group metabolism gene polymorphisms as modifier of breast cancer risk in Italian BRCA1/2 carriers

Breast Cancer Research and Treatment

Volumn 103, Issue 1, 2007, Pages 29-36

  Pepe, C ^a   Guidugli, L ^a   Sensi, E ^b   Aretini, P ^b   D'Andrea, E ^c   Montagna, M ^c   Manoukian, S ^d   Ottini, L ^e   Radice, P ^f   Viel, A ^g   Bevilacqua, G ^a   Caligo, M A ^a  

^a UNIVERSITY OF PISA   (Italy)

^b Institute of Molecular Genetics and Medicine   (Italy)

^c UNIVERSITY OF PADOVA   (Italy)

^d NATIONAL CANCER INSTITUTE   (Italy)

^e Department of Experimental Medicine and Pathology ^*  (Italy)

^f FIRC INSTITUTE OF MOLECULAR ONCOLOGY   (Italy)

^g CENTRO DI RIFERIMENTO ONCOLOGICO   (Italy)

Author keywords

BRCA1 2; Cancer risk; DNA methylation; Gene penetrance modifiers; Hereditary breast and or ovarian cancer

Indexed keywords

5,10 METHYLENETETRAHYDROFOLATE REDUCTASE (FADH2); BRCA1 PROTEIN; BRCA2 PROTEIN; METHYL GROUP;

ADULT; AGED; ALLELE; ARTICLE; BREAST CANCER; CANCER RISK; CANCER SUSCEPTIBILITY; DNA METHYLATION; FEMALE; GENETIC ASSOCIATION; GENETIC POLYMORPHISM; GENETIC VARIABILITY; HETEROZYGOSITY; HUMAN; MALE; OVARY CANCER; PENETRANCE; PRIORITY JOURNAL; PROPORTIONAL HAZARDS MODEL; RESTRICTION FRAGMENT LENGTH POLYMORPHISM;

5-METHYLTETRAHYDROFOLATE-HOMOCYSTEINE S-METHYLTRANSFERASE; ADULT; BREAST NEOPLASMS; CASE-CONTROL STUDIES; DNA METHYLATION; FEMALE; GENE FREQUENCY; GENES, BRCA1; GENES, BRCA2; GENETIC PREDISPOSITION TO DISEASE; HETEROZYGOTE; HUMANS; ITALY; MALE; METHYLENETETRAHYDROFOLATE REDUCTASE (NADPH2); MIDDLE AGED; NEOPLASMS, MULTIPLE PRIMARY; OVARIAN NEOPLASMS; PENETRANCE; POLYMORPHISM, RESTRICTION FRAGMENT LENGTH; PROPORTIONAL HAZARDS MODELS; RISK;

EID: 34247532372     PISSN: 01676806     EISSN: None     Source Type: Journal    
DOI: 10.1007/s10549-006-9349-y     Document Type: Article

References (35)

1. Narod SA, Foulkes WD (1994) BRCA1 and BRCA2: 1994 and beyond. Nat Rev Cancer 4(9):665-676
2. Antoniou A, Pharoah PD, Narod S, Risch HA, Eyfjord JE, Hopper JL, Loman N, Olsson H, Johannsson O, Borg A, Pasini B, Radice P, Manoukian S, Eccles DM, Tang N, Olah E, Anton-Culver H, Warner E, Lubinski J, Gronwald J, Gorski B, Tulinius H, Thorlacius S, Eerola H, Nevanlinna H, Syrjakoski K, Kallioniemi OP, Thompson D, Evans C, Peto J, Lalloo F, Evans DG, Easton DF (2003) Average risks of breast and ovarian cancer associated with BRCA1 or BRCA2 mutations detected in case series unselected for family history: a combined analysis of 22 studies. Am J Hum Genet 72(5):1117-1130
3. Fang JY, Xiao SD (2003) Folic acid, polymorphism of methyl-group metabolism genes, and DNA methylation in relation to GI carcinogenesis. J Gastroenterol 38(9):821-829 (review)
4. Johanning GL, Heimburger DC, Piyathilake CJ (2002) DNA methylation and diet in cancer. J Nutr 132(12):3814S-3818S
5. Esteller M, Silva JM, Dominguez G, Bonilla F,Matias-Guiu X, Lerma E, Bussaglia E, Prat J, Harkes IC, Repasky EA, Gabrielson E, Schutte M, Baylin SB, Herman JG (2000) Promoter hypermethylation and BRCA1 inactivation in sporadic breast and ovarian tumors. J Natl Cancer Inst 92(7):564-569
6. Strathdee G, Appleton K, Illand M, Millan DW, Sargent J, Paul J, Brown R (2001) Primary ovarian carcinomas display multiple methylator phenotypes involving known tumor suppressor genes. Am J Pathol 158(3):1121-1127
7. Wei M, Grushko TA, Dignam J, Hagos F, Nanda R, Sveen L, Xu J, Fackenthal J, Tretiakova M, Das S, Olopade OI (2005) BRCA1 promoter methylation in sporadic breast cancer is associated with reduced BRCA1 copy number and chromosome 17 aneusomy. Cancer Res 65(23):10692-10699
8. Esteller M, Fraga MF, Guo M, Garcia-Foncillas J, Hedenfalk I, Godwin AK, Trojan J, Vaurs-Barriere C, Bignon YJ, Ramus S, Benitez J, Caldes T, Akiyama Y, Yuasa Y, Launonen V, Canal MJ, Rodriguez R, Capella G, Peinado MA, Borg A, Aaltonen LA, Ponder BA, Baylin SB, Herman JG (2001) DNA methylation patterns in hereditary human cancers mimic sporadic tumorigenesis. Hum Mol Genet 10:3001-3007
9. Collins N, Wooster R, Stratton MR (1997) Absence of methylation of CpG dinucleotides within the promoter of the breast cancer susceptibility gene BRCA2 in normal tissues and in breast and ovarian cancers. Br J Cancer 76(9):1150-1156
10. Gras E, Cortes J, Diez O, Alonso C, Matias-Guiu X, Baiget M, Prat J (2001) Loss of heterozygosity on chromosome 13q12-q14, BRCA-2 mutations and lack of BRCA-2 promoter hypermethylation in sporadic epithelial ovarian tumors. Cancer 92(4):787-795
11. Frosst P, Blom HJ, Milos R, Goyette P, Sheppard CA, Matthews RG, Boers GJ, den Heijer M, Kluijtmans LA, van den Heuvel LP (1995) A candidate genetic risk factor for vascular disease: a common mutation in methylenetetrahydrofolate reductase. Nat Genet 10(1):111-113
12. Van Der Put NM, Gabreels F, Stevens EM, Smeitink JA, Trijbels FJ, Eskes TK, van den Heuvel LP, Blom HJ (1998) A second common mutation in the methylenetetrahydrofolate reductase gene: an additional risk factor for neural-tube defects?. Am J Hum Genet 62:1044-1051
13. Esteller M, Garcia A, Martinez-Palones JM, Xercavins J, Reventos J (1997) Germline polymorphisms in cytochrome-P450 1A1 (C4887 CYP1A1) and methylenetetrahydrofolate reductase (MTHFR) genes and endometrial cancer susceptibility. Carcinogenesis 18(12):2307-2311
14. Toffoli G, Gafà R, Russo A, Lanza G, Dolcetti R, Sartor F, Libra M, Viel A, Boiocchi M (2003) Methylenetetrahydrofolate reductase 677C → T polymorphism and risk of proximal colon cancer in north Italy. Clin Cancer Res 9(2):743-748
15. Sull JW, Lee SH, Yi S, Lee JE, Park JS, Kim S, Ohrr H (2004) The effect of methylenetetrahydrofolate reductase polymorphism C677T on cervical cancer in Korean women. Gynecol Oncol 95(3):557-563
16. Ulvik A, Vollset SE, Hansen S, Gislefoss R, Jellum E, Ueland PM (2004) Colorectal cancer and the methylenetetrahydrofolate reductase 677C → T and methionine synthase 2756A → G polymorphisms: a study of 2,168 case-control pairs from the JANUS cohort. Cancer Epidemiol Biomarkers Prev 13(12):2175-2180
17. Graziano F, Kawakami K, Ruzzo A, Watanabe G, Santini D, Pizzagalli F, Bisonni R, Mari D, Floriani I, Catalano V, Silva R, Tonini G, Torri V, Giustini L, Magnani M (2005) Methylenetetrahydrofolate reductase 677C/T gene polymorphism, gastric cancer susceptibility and genomic DNA hypomethylation in an at-risk Italian population. Int J Cancer 118(3):628-632
18. Ergul E, Sazci A, Utkan Z, Canturk NZ (2003) Polymorphisms in the MTHFR gene are associated with breast cancer. Tumour Biol 24:286-290
19. Campbell IG, Baxter SW, Eccles DM, Choong DYH (2002) Methylentetrahydrofolate reductase polymorphism and susceptibility to breast cancer. Breast Cancer Res 4:R14
20. Semenza JC, Delfino RJ, Ziogas A, Anton-Culver H ( 2003) Breast cancer risk and methylentetrahydrofolate reuctase polymorphism. Breast Cancer Res Treat 77: 217-223
21. Langsenlehner U, Krippl P, Renner W, Yazdani-Biuki B, Wolf G, Wascher TC, Paulweber B, Weitzer W, Samonigg H (2003) The common 677C>T gene polymorphism of methylenetetrahydrofolate reductase is not associated with breast cancer risk. Breast Cancer Res Treat 81(2):169-172
22. Lee SA, Kang D, Nishio H, Lee MJ, Kim DH, Han W, Yoo KY, Ahn SH, Choe KJ, Hirvonen A, Noh DY (2004) Methylentetrahydrofolate reductase polymorphism, diet, and breast cancer in Korean women. Exp Mol Med 36(2):116-121
23. Gershoni-Baruch R, Dagan E, Israeli D, Kasinetz L, Kadouri E, Friedman E (2000) Association of the C677T polymorphism in the MTHFR gene with breast and/or ovarian cancer risk in Jewish women. Eur J Cancer 36:2313-2316
24. Sharp L, Little J (2004) Polymorphisms in genes involved in folate metabolism and colorectal neoplasia: a HuGE review. Am J Epidemiol 159(5):423-443
25. Zhang Z, Shi Q, Liu Z, Sturgis EM, Spitz MR, Wei Q (2005) Polymorphisms of methionine synthase and methionine synthase reductase and risk of squamous cell carcinoma of the head and neck: a case-control analysis. Cancer Epidemiol Biomarkers Prev 14(5):1188-1193
26. Spurdle AB, Antoniou AC, Duffy DL, Pandeya N, Kelemen L, Chen X, Peock S, Cook MR, Smith PL, Purdie DM, Newman B, Dite GS, Apicella C, Southey MC, Giles GG, Hopper JL, Chenevix-Trench G, Easton DF, EMBRACE Study Collaborators (2005) The androgen receptor CAG repeat polymorphism and modification of breast cancer risk in BRCA1 and BRCA2 mutation carriers. Breast Cancer Res 7:R176-R183
27. Baylin SB, Esteller M, Rountree MR, Bachman KE, Schuebel K, Herman JG (2001) Aberrant patterns of DNA methylation, chromatin formation and gene expression in cancer. Hum Mol Genet 10(7):687-692
28. Esteller M (2003) Cancer epigenetics: DNA methylation and chromatin alterations in human cancer. Adv Exp Med Biol 532:39-49
29. Esteller M (2000) Epigenetic lesions causing genetic lesions in human cancer: promoter hypermethylation of DNA repair genes. Eur J Cancer 36(18):2294-2300
30. Li SY, Rong M, Iacopetta B (2006) DNA hypermethylation in breast cancer and its association with clinicopathological features. Cancer Lett 237(2):272-280
31. Paz MF, Fraga MF, Avila S, Gun M, Pollan M, Herman JG, Esteller M (2003) A Systematic profile of DNA methylation in human cancer cell lines. Cancer Res 63:1114-1121
32. Oyama K, Kawakami K, Maeda K, Ishiguro K, Watanabe G (2004) The association between methylenetetrahydrofolate reductase polymorphism and promoter methylation in proximal colon cancer. Anticancer Res 24(2B):649-654
33. Kang S, Kim JW, Kang GH, Park NH, Song YS, Kang SB, Lee HP (2005) Polymorphism in folate- and methionine-metabolizing enzyme and aberrant CpG island hypermethylation in uterine cervical cancer. Gynecol Oncol 96:173-180
34. Niwa Y, Oyama T, Nakajima T (2000) BRCA1 expression status in relation to DNA methylation of the BRCA1 promoter region in sporadic breast cancers. Jpn J Cancer Res 91(5):519-526
35. Sorlie T, Tibshirani R, Parker J, Hastie T, Marron JS, Nobel A, Deng S, Johnsen H, Pesich R, Geisler S, Demeter J, Perou CM, Lonning PE, Brown PO, Borresen-Dale AL, Botstein D (2003) Repeated observation of breast tumor subtypes in independent gene expression data sets. Proc Natl Acad Sci USA 100(14):8418-8423