Cropley JE, Martin DI, Suter CM. Germline epimutation in humans. Pharmacogenomics. 2008;9(12):1861–8.
Article
CAS
Google Scholar
Jones PA, Baylin SB. The fundamental role of epigenetic events in cancer. Nat Rev Genet. 2002;3(6):415–28.
Article
CAS
Google Scholar
Chong S, Youngson NA, Whitelaw E. Heritable germline epimutation is not the same as transgenerational epigenetic inheritance. Nat Genet. 2007;39(5):574–5. author reply 575-576
Article
CAS
Google Scholar
Horsthemke B. Heritable germline epimutations in humans. Nat Genet. 2007;39(5):573–4. author reply 575-576
Article
CAS
Google Scholar
Suter CM, Martin DI. Inherited epimutation or a haplotypic basis for the propensity to silence? Nat Genet. 2007;39(5):573. author reply 576
Article
CAS
Google Scholar
Jacinto FV, Esteller M. Mutator pathways unleashed by epigenetic silencing in human cancer. Mutagenesis. 2007;22(4):247–53.
Article
CAS
Google Scholar
Welcsh PL, King MC. BRCA1 and BRCA2 and the genetics of breast and ovarian cancer. Hum Mol Genet. 2001;10(7):705–13.
Article
CAS
Google Scholar
Matros E, Wang ZC, Lodeiro G, Miron A, Iglehart JD, Richardson AL. BRCA1 promoter methylation in sporadic breast tumors: relationship to gene expression profiles. Breast Cancer Res Treat. 2005;91(2):179–86.
Article
CAS
Google Scholar
Iwamoto T, Yamamoto N, Taguchi T, Tamaki Y, Noguchi S. BRCA1 promoter methylation 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.
Article
CAS
Google Scholar
Kontorovich T, Cohen Y, Nir U, Friedman E. Promoter methylation patterns of ATM, ATR, BRCA1, BRCA2 and p53 as putative cancer risk modifiers in Jewish BRCA1/BRCA2 mutation carriers. Breast Cancer Res Treat. 2009;116(1):195–200.
Article
CAS
Google Scholar
Al-Moghrabi N, Al-Qasem AJ, Aboussekhra A. Methylation-related mutations in the BRCA1 promoter in peripheral blood cells from cancer-free women. Int J Oncol. 2011;39(1):129–35.
CAS
PubMed
Google Scholar
Wong EM, Southey MC, Fox SB, Brown MA, Dowty JG, Jenkins MA, Giles GG, Hopper JL, Dobrovic A. 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.
Article
CAS
Google Scholar
Hansmann T, Pliushch G, Leubner M, Kroll P, Endt D, Gehrig A, Preisler-Adams S, Wieacker P, Haaf T. Constitutive promoter methylation of BRCA1 and RAD51C in patients with familial ovarian cancer and early-onset sporadic breast cancer. Hum Mol Genet. 2012;21(21):4669–79.
Article
CAS
Google Scholar
Cho YH, Yazici H, Wu HC, Terry MB, Gonzalez K, Qu M, Dalay N, Santella RM. Aberrant promoter hypermethylation and genomic hypomethylation in tumor, adjacent normal tissues and blood from breast cancer patients. Anticancer Res. 2010;30(7):2489–96.
CAS
PubMed
PubMed Central
Google Scholar
Cho YH, McCullough LE, Gammon MD, Wu HC, Zhang YJ, Wang Q, Xu X, Teitelbaum SL, Neugut AI, Chen J, et al. Promoter hypermethylation in white blood cell DNA and breast cancer risk. J Cancer. 2015;6(9):819–24.
Article
CAS
Google Scholar
Daniels DS, Woo TT, Luu KX, Noll DM, Clarke ND, Pegg AE, Tainer JA. DNA binding and nucleotide flipping by the human DNA repair protein AGT. Nat Struct Mol Biol. 2004;11(8):714–20.
Article
CAS
Google Scholar
Gerson SL. MGMT: its role in cancer aetiology and cancer therapeutics. Nat Rev Cancer. 2004;4(4):296–307.
Article
CAS
Google Scholar
Kim JI, Suh JT, Choi KU, Kang HJ, Shin DH, Lee IS, Moon TY, Kim WT. Inactivation of O6-methylguanine-DNA methyltransferase in soft tissue sarcomas: association with K-ras mutations. Hum Pathol. 2009;40(7):934–41.
Article
CAS
Google Scholar
Fumagalli C, Pruneri G, Possanzini P, Manzotti M, Barile M, Feroce I, Colleoni M, Bonanni B, Maisonneuve P, Radice P, et al. Methylation of O6-methylguanine-DNA methyltransferase (MGMT) promoter gene in triple-negative breast cancer patients. Breast Cancer Res Treat. 2012;134(1):131–7.
Article
CAS
Google Scholar
Roh HJ, Suh DS, Choi KU, Yoo HJ, Joo WD, Yoon MS. Inactivation of O(6)-methyguanine-DNA methyltransferase by promoter hypermethylation: association of epithelial ovarian carcinogenesis in specific histological types. J Obstet Gynaecol Res. 2011;37(7):851–60.
Article
CAS
Google Scholar
Hitchins MP, Wong JJ, Suthers G, Suter CM, Martin DI, Hawkins NJ, Ward RL. Inheritance of a cancer-associated MLH1 germ-line epimutation. N Engl J Med. 2007;356(7):697–705.
Article
CAS
Google Scholar
Morak M, Schackert HK, Rahner N, Betz B, Ebert M, Walldorf C, Royer-Pokora B, Schulmann K, von Knebel-Doeberitz M, Dietmaier W, et al. 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. 2008;16(7):804–11.
Article
CAS
Google Scholar
Crepin M, Dieu MC, Lejeune S, Escande F, Boidin D, Porchet N, Morin G, Manouvrier S, Mathieu M, Buisine MP. Evidence of constitutional MLH1 epimutation associated to transgenerational inheritance of cancer susceptibility. Hum Mutat. 2012;33(1):180–8.
Article
CAS
Google Scholar
Al-Moghrabi N, Nofel A, Al-Yousef N, Madkhali S, Bin Amer SM, Alaiya A, Shinwari Z, Al-Tweigeri T, Karakas B, Tulbah A, et al. The molecular significance of methylated BRCA1 promoter in white blood cells of cancer-free females. BMC Cancer. 2014;14:830.
Article
Google Scholar
Katz TA. Potential mechanisms underlying the protective effect of pregnancy against breast cancer: a focus on the IGF pathway. Front Oncol. 2016;6:228.
PubMed
PubMed Central
Google Scholar
Katz TA, Liao SG, Palmieri VJ, Dearth RK, Pathiraja TN, Huo Z, Shaw P, Small S, Davidson NE, Peters DG, et al. Targeted DNA methylation screen in the mouse mammary genome reveals a parity-induced hypermethylation of Igf1r that persists long after parturition. Cancer Prev Res (Phila). 2015;8(10):1000–9.
Article
CAS
Google Scholar
Wojdacz TK, Harari F, Vahter M, Broberg K. Discordant pattern of BRCA1 gene epimutation in blood between mothers and daughters. J Clin Pathol. 2015;68(7):575–7.
Article
CAS
Google Scholar
Shen L, Kondo Y, Rosner GL, Xiao L, Hernandez NS, Vilaythong J, Houlihan PS, Krouse RS, Prasad AR, Einspahr JG, et al. MGMT promoter methylation and field defect in sporadic colorectal cancer. J Natl Cancer Inst. 2005;97(18):1330–8.
Article
CAS
Google Scholar
Hitchins MP, Rapkins RW, Kwok CT, Srivastava S, Wong JJ, Khachigian LM, Polly P, Goldblatt J, Ward RL. Dominantly inherited constitutional epigenetic silencing of MLH1 in a cancer-affected family is linked to a single nucleotide variant within the 5'UTR. Cancer Cell. 2011;20(2):200–13.
Article
CAS
Google Scholar
Ligtenberg MJ, Kuiper RP, Chan TL, Goossens M, Hebeda KM, Voorendt M, Lee TY, Bodmer D, Hoenselaar E, Hendriks-Cornelissen SJ, et al. Heritable somatic methylation and inactivation of MSH2 in families with Lynch syndrome due to deletion of the 3′ exons of TACSTD1. Nat Genet. 2009;41(1):112–7.
Article
CAS
Google Scholar
Candiloro IL, Dobrovic A. Detection of MGMT promoter methylation in normal individuals is strongly associated with the T allele of the rs16906252 MGMT promoter single nucleotide polymorphism. Cancer Prev Res (Phila). 2009;2(10):862–7.
Article
CAS
Google Scholar
Dobrovic A, Mikeska T, Alsop K, Candiloro I, George J, Mitchell G, Bowtell D. Constitutional BRCA1 methylation is a major predisposition factor for high-grade serous ovarian cancer. [abstract]. In: Proceedings of the 105th Annual Meeting of the American Association for Cancer Research; 2014 Apr 5-9; San Diego, CA. Philadelphia (PA): AACR; Cancer Res 2014;74(19 Suppl):Abstract nr 290. https://doi.org/10.1158/1538-7445.AM2014-290.
Munot K, Bell SM, Lane S, Horgan K, Hanby AM, Speirs V. Pattern of expression of genes linked to epigenetic silencing in human breast cancer. Hum Pathol. 2006;37(8):989–99.
Article
CAS
Google Scholar
Sharma G, Mirza S, Parshad R, Srivastava A, Gupta SD, Pandya P, Ralhan R. Clinical significance of promoter hypermethylation of DNA repair genes in tumor and serum DNA in invasive ductal breast carcinoma patients. Life Sci. 2010;87(3–4):83–91.
Article
CAS
Google Scholar
Wojdacz TK, Thestrup BB, Overgaard J, Hansen LL. Methylation of cancer related genes in tumor and peripheral blood DNA from the same breast cancer patient as two independent events. Diagn Pathol. 2011;6:116.
Article
CAS
Google Scholar
Knudson AG. Hereditary cancer: two hits revisited. J Cancer Res Clin Oncol. 1996;122(3):135–40.
Article
CAS
Google Scholar
Chehade R, Pettapiece-Phillips R, Salmena L, Kotlyar M, Jurisica I, Narod SA, Akbari MR, Kotsopoulos J. Reduced BRCA1 transcript levels in freshly isolated blood leukocytes from BRCA1 mutation carriers is mutation specific. Breast Cancer Res. 2016;18(1):87.
Article
Google Scholar
Birgisdottir V, Stefansson OA, Bodvarsdottir SK, Hilmarsdottir H, Jonasson JG, Eyfjord JE. Epigenetic silencing and deletion of the BRCA1 gene in sporadic breast cancer. Breast Cancer Res. 2006;8(4):R38.
Article
Google Scholar
Esteller M, Hamilton SR, Burger PC, Baylin SB, Herman JG. Inactivation of the DNA repair gene O6-methylguanine-DNA methyltransferase by promoter hypermethylation is a common event in primary human neoplasia. Cancer Res. 1999;59(4):793–7.
CAS
PubMed
Google Scholar
Tost J, Gut IG. DNA methylation analysis by pyrosequencing. Nat Protoc. 2007;2(9):2265–75.
Article
CAS
Google Scholar