Epigenome-wide methylation in DNA from peripheral blood as a marker of risk for breast cancer

Breast Cancer Research and Treatment

Volumn 148, Issue 3, 2014, Pages 665-673

  Severi, Gianluca ^a,b,c   Southey, Melissa C ^b   English, Dallas R ^a,b   Jung, Chol hee ^d   Lonie, Andrew ^d   McLean, Catriona ^e,f   Tsimiklis, Helen ^b   Hopper, John L ^b,g   Giles, Graham G ^a,b,f   Baglietto, Laura ^a,b  

^a CANCER EPIDEMIOLOGY CENTRE   (Australia)

^b UNIVERSITY OF MELBOURNE   (Australia)

^c Human Genetics Foundation   (Italy)

^d Life Sciences Computation Centre   (Australia)

^e ALFRED HOSPITAL   (Australia)

^f MONASH UNIVERSITY   (Australia)

^g Seoul National University   (South Korea)

Author keywords

Breast cancer; DNA methylation; Melbourne Collaborative Cohort Study; Peripheral blood; Risk marker

Indexed keywords

ADULT; AGED; ARTICLE; BREAST CANCER; CANCER GRADING; CANCER RISK; CASE CONTROL STUDY; CONTROLLED STUDY; CPG ISLAND; DISEASE MARKER; DNA METHYLATION; EPIGENETICS; HUMAN; HUMAN CELL; LYMPHOCYTE; MAJOR CLINICAL STUDY; PROMOTER REGION; RISK ASSESSMENT; RISK FACTOR; RISK REDUCTION; TUMOR VOLUME; VERY ELDERLY; BLOOD; BREAST TUMOR; CANCER STAGING; FEMALE; GENETIC ASSOCIATION; GENETICS; MIDDLE AGED; PATHOLOGY;

TUMOR MARKER;

ADULT; AGED; BIOMARKERS, TUMOR; BREAST NEOPLASMS; CASE-CONTROL STUDIES; CPG ISLANDS; DNA METHYLATION; EPIGENOMICS; FEMALE; GENOME-WIDE ASSOCIATION STUDY; HUMANS; MIDDLE AGED; NEOPLASM STAGING; PROMOTER REGIONS, GENETIC;

EID: 84912034001     PISSN: 01676806     EISSN: 15737217     Source Type: Journal    
DOI: 10.1007/s10549-014-3209-y     Document Type: Article

References (37)

1. Das PM, Singal R (2004) DNA methylation and cancer. J Clin Oncol 22(22):4632–4642
2. Kulis M, Esteller M (2010) DNA methylation and cancer. Adv Genet 70:27–56
3. Phillips, T (2008) The role of methylation in gene expression. Nat Educ 1(1):116
4. Wilson AS, Power BE, Molloy PL (2007) DNA hypomethylation and human diseases. Biochim Biophys Acta 1775(1):138–162
5. Hinshelwood RA, Clark SJ (2008) Breast cancer epigenetics: normal human mammary epithelial cells as a model system. J Mol Med (Berl) 86(12):1315–1328
6. Jovanovic J, Ronneberg JA, Tost J, Kristensen V (2010) The epigenetics of breast cancer. Mol Oncol 4(3):242–254
7. Kristiansen S, Jorgensen LM, Guldberg P, Soletormos G (2013) Aberrantly methylated DNA as a biomarker in breast cancer. Int J Biol Markers 28(2):141–150
8. Szyf M (2012) DNA methylation signatures for breast cancer classification and prognosis. Genome Med 4(3):26
9. Fang F, Turcan S, Rimner A, Kaufman A, Giri D, Morris LG et al (2011) Breast cancer methylomes establish an epigenomic foundation for metastasis. Sci Transl Med 3(75):75ra25
10. Zhuang J, Jones A, Lee SH, Ng E, Fiegl H, Zikan M et al (2012) The dynamics and prognostic potential of DNA methylation changes at stem cell gene loci in women’s cancer. PLoS Genet 8(2):e1002517
11. Xu Z, Bolick SC, DeRoo LA, Weinberg CR, Sandler DP, Taylor JA (2013) Epigenome-wide association study of breast cancer using prospectively collected sister study samples. J Natl Cancer Inst 105(10):694–700
12. Shenker, N.S., S. Polidoro, K. van Veldhoven, C. Sacerdote, F. Ricceri, M.A. Birrell, et al. (2012).Epigenome-wide association study in the european prospective investigation into cancer and nutrition (EPIC-Turin) identifies novel genetic loci associated with smoking. Human Mol Genet p. dds488
13. Anjum S, Fourkala E-O, Zikan M, Wong A, Gentry-Maharaj A, Jones A et al (2014) A BRCA1-mutation associated DNA methylation signature in blood cells predicts sporadic breast cancer incidence and survival. Genome Med 6(6):47
14. Fackler MJ, Malone K, Zhang Z, Schilling E, Garrett-Mayer E, Swift-Scanlan T et al (2006) Quantitative multiplex methylation-specific PCR analysis doubles detection of tumor cells in breast ductal fluid. Clin Cancer Res 12(11 Pt 1):3306–3310
15. Hoque MO, Feng Q, Toure P, Dem A, Critchlow CW, Hawes SE et al (2006) Detection of aberrant methylation of four genes in plasma DNA for the detection of breast cancer. J Clin Oncol 24(26):4262–4269
16. Horvath S, Zhang Y, Langfelder P, Kahn RS, Boks MP, van Eijk K et al (2012) Aging effects on DNA methylation modules in human brain and blood tissue. Genome Biol 13(10):R97
17. Lim U, Flood A, Choi SW, Albanes D, Cross AJ, Schatzkin A et al (2008) Genomic methylation of leukocyte DNA in relation to colorectal adenoma among asymptomatic women. Gastroenterology 134(1):47–55
18. Pufulete M, Al-Ghnaniem R, Leather AJ, Appleby P, Gout S, Terry C et al (2003) Folate status, genomic DNA hypomethylation, and risk of colorectal adenoma and cancer: a case control study. Gastroenterology 124(5):1240–1248
19. Hsiung DT, Marsit CJ, Houseman EA, Eddy K, Furniss CS, McClean MD et al (2007) Global DNA methylation level in whole blood as a biomarker in head and neck squamous cell carcinoma. Cancer Epidemiol Biomark Prev 16(1):108–114
20. Moore LE, Pfeiffer RM, Poscablo C, Real FX, Kogevinas M, Silverman D 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
21. Brennan K, Garcia-Closas M, Orr N, Fletcher O, Jones M, Ashworth A et al (2012) Intragenic ATM methylation in peripheral blood DNA as a biomarker of breast cancer risk. Cancer Res 72(9):2304–2313
22. Choi JY, James SR, Link PA, McCann SE, Hong CC, Davis W et al (2009) Association between global DNA hypomethylation in leukocytes and risk of breast cancer. Carcinogenesis 30(11):1889–1897
23. Delgado-Cruzata L, Wu HC, Perrin M, Liao Y, Kappil MA, Ferris JS et al (2012) Global DNA methylation levels in white blood cell DNA from sisters discordant for breast cancer from the New York site of the breast cancer family registry. Epigenetics 7(8):868–874
24. Xu X, Gammon MD, Hernandez-Vargas H, Herceg Z, Wetmur JG, Teitelbaum SL et al (2012) DNA methylation in peripheral blood measured by LUMA is associated with breast cancer in a population-based study. FASEB J 26(6):2657–2666
25. Sandoval J, Heyn H, Moran S, Serra-Musach J, Pujana MA, Bibikova M et al (2011) Validation of a DNA methylation microarray for 450,000 CpG sites in the human genome. Epigenetics 6(6):692–702
26. Clark C, Palta P, Joyce CJ, Scott C, Grundberg E, Deloukas P et al (2012) A comparison of the whole genome approach of MeDIP-seq to the targeted approach of the Infinium Human Methylation450 BeadChip((R)) for methylome profiling. PLoS One 7(11):e50233
27. Houseman EA, Accomando WP, Koestler DC, Christensen BC, Marsit CJ, Nelson HH et al (2012) DNA methylation arrays as surrogate measures of cell mixture distribution. BMC Bioinform 13:86
28. Chen YA, Lemire M, Choufani S, Butcher DT, Grafodatskaya D, Zanke BW et al (2013) Discovery of cross-reactive probes and polymorphic CpGs in the Illumina Infinium HumanMethylation450 microarray. Epigenetics 8(2):203–209
29. Laird PW (2003) The power and the promise of DNA methylation markers. Nat Rev Cancer 3(4):253–266
30. Woo HD, Kim J (2012) Global DNA hypomethylation in peripheral blood leukocytes as a biomarker for cancer risk: a meta-analysis. PLoS One 7(4):e34615
31. Ostertag EM, Kazazian HH Jr (2001) Biology of mammalian L1 retrotransposons. Annu Rev Genet 35:501–538
32. Hoffmann MJ, Schulz WA (2005) Causes and consequences of DNA hypomethylation in human cancer. Biochem Cell Biol 83(3):296–321
33. Horard B, Eymery A, Fourel G, Vassetzky N, Puechberty J, Roizes G et al (2009) Global analysis of DNA methylation and transcription of human repetitive sequences. Epigenetics 4(5):339–350
34. Wu HC, Wang Q, Yang HI, Tsai WY, Chen CJ, Santella RM (2012) Global DNA methylation levels in white blood cells as a biomarker for hepatocellular carcinoma risk: a nested case–control study. Carcinogenesis 33(7):1340–1345
35. Riboli E, Kaaks R (1997) The EPIC project: rationale and study design. European prospective investigation into cancer and nutrition. Int J Epidemiol 26(suppl 1):S6
36. Michailidou, K, Hall P, Gonzalez-Neira A, Ghoussaini M, Dennis J, Milne RL et al (2013) Large-scale genotyping identifies 41 new loci associated with breast cancer risk. Nat Genet 45(4):353–361
37. Severi G, Byrnes GB, Hopper JL (2008) Five genetic variants associated with prostate cancer. N Engl J Med 358(25):2739–2740