Blood-derived DNA methylation markers of cancer risk

Advances in Experimental Medicine and Biology

Volumn 754, Issue , 2013, Pages 233-252

  Marsit, Carmen ^a   Christensen, Brock ^a  

^a DARTMOUTH MEDICAL SCHOOL   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

GENOMIC DNA; TUMOR MARKER;

ARTICLE; BLOOD ANALYSIS; CANCER RESEARCH; CANCER RISK; CARCINOGENESIS; DISEASE MARKER; DNA METHYLATION; DNA MICROARRAY; ENVIRONMENTAL FACTOR; EPIGENETICS; GENE MUTATION; HUMAN; IMMUNE SYSTEM; LONG INTERSPERSED REPEAT; LONG TERMINAL REPEAT; MOLECULAR STABILITY; NONHUMAN; PRIORITY JOURNAL;

EID: 84869070894     PISSN: 00652598     EISSN: None     Source Type: Book Series    
DOI: 10.1007/978-1-4419-9967-2_12     Document Type: Article

References (80)

1. Alexander RP, Fang G et al (2010) Annotating non-coding regions of the genome. Nat Rev Genet 11(8):559-571
2. Ally MS, Al-Ghnaniem R et al (2009) The relationship between gene-speci fi c DNA methylation in leukocytes and normal colorectal mucosa in subjects with and without colorectal tumors. Cancer Epidemiol Biomarkers Prev 18(3):922-928
3. Al-Moghrabi N, Al-Qasem AJ et al (2011) Methylation-related mutations in the BRCA1 promoter in peripheral blood cells from cancer-free women. Int J Oncol 39(1):129-135
4. Baccarelli A, Wright RO et al (2009) Rapid DNA methylation changes after exposure to traffic particles. Am J Respir Crit Care Med 179(7):572-578
5. Barker DJ (2004) Developmental origins of adult health and disease. J Epidemiol Community Health 58(2):114-115
6. Barker DJ (2004) The developmental origins of well-being. Philos Trans R Soc Lond B Biol Sci 359(1449):1359-1366 (Pubitemid 39275374)
7. Bennett KL, Mester J et al (2010) Germline epigenetic regulation of KILLIN in Cowden and Cowden-like syndrome. JAMA 304(24):2724-2731
8. Bibikova M, Lin Z et al (2006) High-throughput DNA methylation pro fi ling using universal bead arrays. Genome Res 16(3):383-393 (Pubitemid 43327509)
9. Birgisdottir V, Stefansson OA et al (2006) Epigenetic silencing and deletion of the BRCA1 gene in sporadic breast cancer. Breast cancer research: BCR 8(4):R38
10. Bollati V, Baccarelli A et al (2007) Changes in DNA methylation patterns in subjects exposed to low-dose benzene. Cancer Res 67(3):876-880
11. Bosviel R, Michard E et al (2011) Peripheral blood DNA methylation detected in the BRCA1 or BRCA2 promoter for sporadic ovarian cancer patients and controls. Clin Chim Acta 412(15-16):1472-1475
12. Butcher DT, Rodenhiser DI (2007) Epigenetic inactivation of BRCA1 is associated with aberrant expression of CTCF and DNA methyltransferase (DNMT3B) in some sporadic breast tumours. Eur J Cancer 43(1):210-219 (Pubitemid 46070215)
13. Cash HL, Tao L et al (2011) LINE-1 hypomethylation is associated with bladder cancer risk among nonsmoking Chinese. Int J Cancer 130(5):1151-1159
14. Chan TL, Yuen ST et al (2006) Heritable germline epimutation of MSH2 in a family with hereditary nonpolyposis colorectal cancer. Nat Genet 38(10):1178-1183 (Pubitemid 44470364)
15. Choi JY, James SR et al (2009) Association between global DNA hypomethylation in leukocytes and risk of breast cancer. Carcinogenesis 30(11):1889-1897
16. Christensen BC, Houseman EA et al (2009) Aging and environmental exposures alter tissuespeci fi c DNA methylation dependent upon CpG island context. PLoS Genet 5(8):e1000602
17. Cordaux R, Batzer MA (2009) The impact of retrotransposons on human genome evolution. Nat Rev Genet 10(10):691-703
18. Deininger PL, Batzer MA (1999) Alu repeats and human disease. Mol Genet Metab 67(3): 183-193 (Pubitemid 29390169)
19. Dewannieux M, Esnault C et al (2003) LINE-mediated retrotransposition of marked Alu sequences. Nat Genet 35(1):41-48 (Pubitemid 37048594)
20. Dobrovic A, Kristensen LS (2009) DNA methylation, epimutations and cancer predisposition. Int J Biochem Cell Biol 41(1):34-39
21. Eads CA, Danenberg KD et al (2000) MethyLight: a high-throughput assay to measure DNA methylation. Nucleic Acids Res 28(8):E32
22. Flanagan JM, Munoz-Alegre M et al (2009) Gene-body hypermethylation of ATM in peripheral blood DNA of bilateral breast cancer patients. Hum Mol Genet 18(7):1332-1342
23. Florl AR, Lower R et al (1999) DNA methylation and expression of LINE-1 and HERV-K provirus sequences in urothelial and renal cell carcinomas. Br J Cancer 80(9):1312-1321 (Pubitemid 29308598)
24. Fraga MF, Ballestar E et al (2005) Epigenetic differences arise during the lifetime of monozygotic twins. Proc Natl Acad Sci USA 102(30):10604-10609 (Pubitemid 41061601)
25. Futreal PA, Liu Q et al (1994) BRCA1 mutations in primary breast and ovarian carcinomas. Science 266(5182):120-122 (Pubitemid 24345332)
26. Gama-Sosa MA, Wang RY et al (1983) The 5-methylcytosine content of highly repeated sequences in human DNA. Nucleic Acids Res 11(10):3087-3095
27. Gaudet F, Hodgson JG et al (2003) Induction of tumors in mice by genomic hypomethylation. Science 300(5618):489-492 (Pubitemid 36444330)
28. Gicquel C, Rossignol S et al (2005) Epimutation of the telomeric imprinting center region on chromosome 11p15 in Silver-Russell syndrome. Nat Genet 37(9):1003-1007 (Pubitemid 43086160)
29. Hajkova P, Erhardt S et al (2002) Epigenetic reprogramming in mouse primordial germ cells. Mech Dev 117(1-2):15-23 (Pubitemid 36158711)
30. Herman JG, Graff JR et al (1996) Methylation-speci fi c PCR: a novel PCR assay for methylation status of CpG islands. Proc Natl Acad Sci USA 93(18):9821-9826 (Pubitemid 26296693)
31. Hitchins MP (2010) Inheritance of epigenetic aberrations (constitutional epimutations) in cancer susceptibility. Adv Genet 70:201-243
32. Hitchins M, Williams R et al (2005) MLH1 germline epimutations as a factor in hereditary nonpolyposis colorectal cancer. Gastroenterology 129(5):1392-1399 (Pubitemid 41597381)
33. Hitchins MP, Wong JJ et al (2007) Inheritance of a cancer-associated MLH1 germ-line epimutation. N Engl J Med 356(7):697-705
34. Hitchins M, Owens S et al (2011) Identi fi cation of new cases of early-onset colorectal cancer with an MLH1 epimutation in an ethnically diverse South African cohort(dagger). Clin Genet 80(5):428-434
35. Hou L, Wang H et al (2010) Blood leukocyte DNA hypomethylation and gastric cancer risk in a high-risk Polish population. Int J Cancer 127(8):1866-1874
36. Hsiung DT, Marsit CJ et al (2007) Global DNA methylation level in whole blood as a biomarker in head and neck squamous cell carcinoma. Cancer Epidemiol Biomarkers Prev 16(1):108-114 (Pubitemid 46174272)
37. Iwamoto T, Yamamoto N et al (2011) BRCA1 promoter methylation in peripheral blood cells is associated with increased risk of breast cancer with BRCA1 promoter methylation. Breast Cancer Res Treat 129(1):69-77
38. Jones PA, Laird PW (1999) Cancer epigenetics comes of age. Nat Genet 21(2):163-167 (Pubitemid 29070360)
39. Jordan IK, Rogozin IB et al (2003) Origin of a substantial fraction of human regulatory sequences from transposable elements. Trends Genet 19(2):68-72 (Pubitemid 36120660)
40. Koestler DC, Marsit CJ et al (2010) Semi-supervised recursively partitioned mixture models for identifying cancer subtypes. Bioinformatics 26(20):2578-2585
41. Kolomietz E, Meyn MS et al (2002) The role of Alu repeat clusters as mediators of recurrent chromosomal aberrations in tumors. Genes Chromosomes Cancer 35(2):97-112 (Pubitemid 34919966)
42. Lancaster JM, Wooster R et al (1996) BRCA2 mutations in primary breast and ovarian cancers. Nat Genet 13(2):238-240 (Pubitemid 26000445)
43. Lander ES, Linton LM et al (2001) Initial sequencing and analysis of the human genome. Nature 409(6822):860-921 (Pubitemid 32165345)
44. Langevin SM, Koestler DC et al (2012) Peripheral blood DNA methylation pro fi les are predictive of head and neck squamous cell carcinoma: an epigenome-wide association study. Epigenetics 7(3):291-299
45. Lee J, Inoue K et al (2002) Erasing genomic imprinting memory in mouse clone embryos produced from day 11.5 primordial germ cells. Development 129(8):1807-1817 (Pubitemid 34874196)
46. Li W, Deng J et al (2010) Association of 5′ -CpG island hypermethylation of the FHIT gene with lung cancer in southern-central Chinese population. Cancer Biol Ther 10(10):997-1000
47. Lim U, Flood A et al (2008) Genomic methylation of leukocyte DNA in relation to colorectal adenoma among asymptomatic women. Gastroenterology 134(1):47-55 (Pubitemid 350309318)
48. Liu Z, Zhao J et al (2008) CpG island methylator phenotype involving tumor suppressor genes located on chromosome 3p in non-small cell lung cancer. Lung Cancer 62(1):15-22
49. Liu Z, Li W et al (2010) CpG island methylator phenotype involving chromosome 3p confers an increased risk of non-small cell lung cancer. J Thorac Oncol 5(6):790-797
50. Marsit CJ, Koestler DC et al (2011) DNA methylation array analysis identi fi es pro fi les of blood-derived DNA methylation associated with bladder cancer. J Clin Oncol 29(9): 1133-1139
51. McCarthy MI, Hirschhorn JN (2008) Genome-wide association studies: potential next steps on a genetic journey. Hum Mol Genet 17(R2):R156-R165
52. McKay JD, Truong T et al (2011) A genome-wide association study of upper aerodigestive tract cancers conducted within the INHANCE consortium. PLoS Genet 7(3):e1001333
53. Menendez L, Benigno BB et al (2004) L1 and HERV-W retrotransposons are hypomethylated in human ovarian carcinomas. Mol Cancer 3:12
54. Moore LE, Pfeiffer RM et al (2008) Genomic DNA hypomethylation as a biomarker for bladder cancer susceptibility in the Spanish Bladder Cancer Study: a case-control study. Lancet Oncol 9(4):359-366
55. Morak M, Schackert HK et al (2008) Further evidence for heritability of an epimutation in one of 12 cases with MLH1 promoter methylation in blood cells clinically displaying HNPCC. Eur J Hum Genet 16(7):804-811 (Pubitemid 351865678)
56. Nelson HH, Marsit CJ et al (2011) "Global methylation" in exposure biology and translational medical science. Environ Health Perspect 119(11):1528-1533
57. Netchine I, Rossignol S et al (2007) 11p15 imprinting center region 1 loss of methylation is a common and speci fi c cause of typical Russell-Silver syndrome: clinical scoring system and epigenetic-phenotypic correlations. J Clin Endocrinol Metab 92(8):3148-3154 (Pubitemid 47236384)
58. Pavanello S, Bollati V et al (2009) Global and gene-speci fi c promoter methylation changes are related to anti-B[a]PDE-DNA adduct levels and influence micronuclei levels in polycyclic aromatic hydrocarbon-exposed individuals. Int J Cancer 125(7):1692-1697
59. Pedersen KS, Bamlet WR et al (2011) Leukocyte DNA methylation signature differentiates pancreatic cancer patients from healthy controls. PLoS One 6(3):e18223
60. Pufulete M, Al-Ghnaniem R et al (2003) Folate status, genomic DNA hypomethylation, and risk of colorectal adenoma and cancer: a case control study. Gastroenterology 124(5): 1240-1248 (Pubitemid 36531800)
61. Roupret M, Hupertan V et al (2008) Promoter hypermethylation in circulating blood cells identi fi es prostate cancer progression. Int J Cancer 122(4):952-956
62. Rusiecki JA, Baccarelli A et al (2008) Global DNA hypomethylation is associated with high serum-persistent organic pollutants in Greenlandic Inuit. Environ Health Perspect 116(11): 1547-1552
63. Sano H, Imokawa M et al (1988) Detection of heavy methylation in human repetitive DNA subsets by a monoclonal antibody against 5-methylcytosine. Biochim Biophys Acta 951(1): 157-165 (Pubitemid 18265233)
64. Snell C, Krypuy M et al (2008) BRCA1 promoter methylation in peripheral blood DNA of mutation negative familial breast cancer patients with a BRCA1 tumour phenotype. Breast Cancer Res 10(1):R12
65. Steenman MJ, Rainier S et al (1994) Loss of imprinting of IGF2 is linked to reduced expression and abnormal methylation of H19 in Wilms' tumour. Nat Genet 7(3):433-439 (Pubitemid 24204423)
66. Suter CM, Martin DI et al (2004) Germline epimutation of MLH1 in individuals with multiple cancers. Nat Genet 36(5):497-501 (Pubitemid 38620035)
67. Suter CM, Martin DI et al (2004) Hypomethylation of L1 retrotransposons in colorectal cancer and adjacent normal tissue. Int J Colorectal Dis 19(2):95-101 (Pubitemid 38239827)
68. Tarantini L, Bonzini M et al (2009) Effects of particulate matter on genomic DNA methylation content and iNOS promoter methylation. Environ Health Perspect 117(2):217-222
69. Teschendorff AE, Menon U et al (2009) An epigenetic signature in peripheral blood predicts active ovarian cancer. PLoS One 4(12):e8274
70. Thompson ME, Jensen RA et al (1995) Decreased expression of BRCA1 accelerates growth and is often present during sporadic breast cancer progression. Nat Genet 9(4):444-450
71. Ting DT, Lipson D et al (2011) Aberrant overexpression of satellite repeats in pancreatic and other epithelial cancers. Science 331(6017):593-596
72. Vineis P, Chuang SC et al (2011) DNA methylation changes associated with cancer risk factors and blood levels of vitamin metabolites in a prospective study. Epigenetics 6(2):195-201
73. Wang L, Aakre JA et al (2010) Methylation markers for small cell lung cancer in peripheral blood leukocyte DNA. J Thorac Oncol 5(6):778-785
74. Weisenberger DJ, Campan M et al (2005) Analysis of repetitive element DNA methylation by MethyLight. Nucleic Acids Res 33(21):6823-6836 (Pubitemid 41830488)
75. Widschwendter M, Apostolidou S et al (2008) Epigenotyping in peripheral blood cell DNA and breast cancer risk: a proof of principle study. PLoS One 3(7):e2656
76. Wilhelm CS, Kelsey KT et al (2010) Implications of LINE1 methylation for bladder cancer risk in women. Clin Cancer Res 16(5):1682-1689
77. Wong IH, Lo YM et al (2000) Frequent p15 promoter methylation in tumor and peripheral blood from hepatocellular carcinoma patients. Clin Cancer Res 6(9):3516-3521
78. Wong EM, Southey MC et al (2011) Constitutional methylation of the BRCA1 promoter is speci fi cally associated with BRCA1 mutation-associated pathology in early-onset breast cancer. Cancer Prev Res (Phila) 4(1):23-33
79. Wu HC, Delgado-Cruzata L et al (2011) Global methylation pro fi les in DNA from different blood cell types. Epigenetics 6(1):76-85
80. Yang AS, Estecio MR et al (2004) A simple method for estimating global DNA methylation using bisul fi te PCR of repetitive DNA elements. Nucleic Acids Res 32(3):e38