Epigenome-wide association study of breast cancer using prospectively collected sister study samples

Journal of the National Cancer Institute

Volumn 105, Issue 10, 2013, Pages 694-700

  Xu, Zongli ^a   Bolick, Sophia C E ^a   Deroo, Lisa A ^a   Weinberg, Clarice R ^a   Sandler, Dale P ^a   Taylor, Jack A ^a  

^a NATIONAL INSTITUTE OF ENVIRONMENTAL HEALTH SCIENCES   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

EPIDERMAL GROWTH FACTOR RECEPTOR 2;

ACCURACY; ARTICLE; BLOOD SAMPLING; BREAST CANCER; DNA METHYLATION; EPIGENETICS; FEMALE; GENETIC ASSOCIATION; HUMAN; HUMAN TISSUE; MAJOR CLINICAL STUDY; PREGNANCY; PRIORITY JOURNAL; PROSPECTIVE STUDY; SINGLE NUCLEOTIDE POLYMORPHISM;

ADAPTOR PROTEINS, SIGNAL TRANSDUCING; ADULT; AGED; BRCA1 PROTEIN; BREAST NEOPLASMS; CASE-CONTROL STUDIES; CELL CYCLE PROTEINS; CHROMOSOMAL PROTEINS, NON-HISTONE; CPG ISLANDS; DNA METHYLATION; DNA-BINDING PROTEINS; FEMALE; GENETIC PREDISPOSITION TO DISEASE; GENOME-WIDE ASSOCIATION STUDY; HUMANS; MIDDLE AGED; MUTS HOMOLOG 2 PROTEIN; NEOPLASM PROTEINS; NUCLEAR PROTEINS; POLYMORPHISM, SINGLE NUCLEOTIDE; PREDICTIVE VALUE OF TESTS; PROSPECTIVE STUDIES; PROTEIN-SERINE-THREONINE KINASES; PTEN PHOSPHOHYDROLASE; RECEPTOR, FIBROBLAST GROWTH FACTOR, TYPE 2; REPRODUCTIVE HISTORY; RISK ASSESSMENT; RISK FACTORS; ROC CURVE; SAMPLING STUDIES; SIBLINGS; TUMOR SUPPRESSOR PROTEINS;

EID: 84877984592     PISSN: 00278874     EISSN: 14602105     Source Type: Journal    
DOI: 10.1093/jnci/djt045     Document Type: Article

References (31)

1. Jemal A, Bray F, Center MM, et al. Global cancer statistics. CA: Cancer J Clin. 2011;61(2):69-90.
2. American Cancer Society. Cancer Facts & Figures 2011. Atlanta: American Cancer Society; 2011: 9.
3. Decarli A, Calza S, Masala G, et al. Gail model for prediction of absolute risk of invasive breast cancer: independent evaluation in the Florence-European Prospective Investigation Into Cancer and Nutrition cohort. J Natl Cancer Inst. 2006;98(23):1686-1693.
4. Wacholder S, Hartge P, Prentice R, et al. Performance of common genetic variants in breast-cancer risk models. N Engl J Med. 2010;362(11):986-993.
5. Lynch HT, Silva E, SNYDER C, et al. Hereditary breast cancer: part I. Diagnosing hereditary breast cancer syndromes. Breast J. 2008;14(1):3-13.
6. Campa D, Kaaks R, Le Marchand L, et al. Interactions between genetic variants and breast cancer risk factors in the breast and prostate cancer cohort consortium. J Natl Cancer Inst. 2011;103(16):1252-1263.
7. Reik W, Dean W, Walter J. Epigenetic reprogramming in mammalian development. Science. 2001;293(5532):1089-1093.
8. Jones PA, Baylin SB. The epigenomics of cancer. Cell. 2007;128(4):683-692.
9. Teschendorff AE, Menon U, Gentry-Maharaj A, et al. An epigenetic signature in peripheral blood predicts active ovarian cancer. PLoS One. 2009;4(12):e8274.
10. Marsit CJ, Koestler DC, Christensen BC, et al. DNA methylation array analysis identifies profiles of blood-derived DNA methylation associated with bladder cancer. J Clin Oncol. 2011;29(9):1133-1139.
11. Langevin SM, Koestler DC, Christensen BC, et al. Peripheral blood DNA methylation profiles are indicative of head and neck squamous cell carcinoma: an epigenome-wide association study. Epigenetics. 2012;7(3):291-299.
12. Rakyan VK, Down TA, Balding DJ, et al. Epigenome-wide association studies for common human diseases. Nat Rev Genet. 2011;12(8):529-541.
13. Self SG, Prentice RL. Asymptotic-distribution theory and efficiency results for case cohort studies. Ann Stat. 1988;16(1):64-81.
14. Therneau TM, Li HZ. Computing the Cox model for case cohort designs. Lifetime Data Anal. 1999;5(2):99-112.
15. Storey JD, Tibshirani R. Statistical significance for genomewide studies. Proc Natl Acad Sci U S A. 2003;100(16):9440-9445.
16. Koestler DC, Marsit CJ, Christensen BC, et al. Peripheral blood immune cell methylation profiles are associated with nonhematopoietic cancers. Cancer Epidemiol Biomarkers Prev. 2012;21(8):1293-1302.
17. Subramanian A, Tamayo P, Mootha VK, et al. Gene set enrichment analysis: a knowledge-based approach for interpreting genome-wide expression profiles. Proc Natl Acad Sci U S A. 2005;102(43):15545-15550.
18. Mootha VK, Lindgren CM, Eriksson K-F, et al. PGC-1alpha-responsive genes involved in oxidative phosphorylation are coordinately downregu-lated in human diabetes. Nat Genet.2003;34(3):267-273.
19. Wessels LF, Reinders MJ, Hart AA, et al. A protocol for building and evaluating predictors of disease state based on microarray data. Bioinformatics. 2005;21(19):3755-3762.
20. Choi J-Y, James SR, Link PA, et al. Association between global DNA hypomethylation in leukocytes and risk of breast cancer. Carcinogenesis. 2009;30(11):1889-1897.
21. Wu H-C, John EM, Ferris JS, et al. Global DNA methylation levels in girls with and without a family history of breast cancer. Epigenetics. 2011;6(1):29-33.
22. Xu X, Gammon MD, Hernandez-Vargas H, et al. DNA methylation in peripheral blood measured by LUMA is associated with breast cancer in a population-based study. FASEB J. 2012;26(6):2657-2666.
23. Flanagan JM, Munoz-Alegre M, Henderson S, et al. Gene-body hyper-methylation of ATM in peripheral blood DNA of bilateral breast cancer patients. Hum Mol Genet. 2009;18(7):1332-1342.
24. Widschwendter M, Apostolidou S, Raum E, et al. Epigenotyping in peripheral blood cell DNA and breast cancer risk: a proof of principle study. PLoS One. 2008;3(7):e2656.
25. Wong EM, Southey MC, Fox SB, et al. Constitutional methylation of the BRCA1 promoter is specifically associated with BRCA1 mutation-associated pathology in early-onset breast cancer. Cancer Prev Res (Phila). 2011;4(1):23-33.
26. Iwamoto T, Yamamoto N, Taguchi T, et al. BRCA1 promoter methyla-tion in peripheral blood cells is associated with increased risk of breast cancer with BRCA1 promoter methylation. Breast Cancer Res Treat. 2011;129(1):69-77.
27. Bosviel R, Michard E, Lavediaux G, et al. Peripheral blood DNA methylation detected in the BRCA1 or BRCA2 promoter for sporadic ovarian cancer patients and controls. Clin Chim Acta. 2011;412(15-16): 1472-1475.
28. Brennan K, Garcia-Closas M, Orr N, et al. Intragenic ATM methylation in peripheral blood DNA as a biomarker of breast cancer risk. Cancer Res. 2012;72(9):2304-2313.
29. Houseman EA, Accomando WP, Koestler DC, et al. DNA meth-ylation arrays as surrogate measures of cell mixture distribution. BMC Bioinformatics. 2012;13(1):86.
30. Lewandowska J, Bartoszek A. DNA methylation in cancer development, diagnosis and therapy-multiple opportunities for genotoxic agents to act as methylome disruptors or remediators. Mutagenesis. 2011;26(4): 475-487.
31. Sobin LH, Gospodarowicz MK, Wittekind C. Breast Tumours. In: TNM Online. Hoboken, NJ: Wiley; 2010:181-193.