Epigenetic Biomarkers of Breast Cancer Risk: Across the Breast Cancer Prevention Continuum

Terry, Mary Beth; McDonald, Jasmine A.; Wu, Hui; Eng, Sybil M.; Santella, Regina M.

doi:10.1007/978-3-319-22909-6_2

Cited by 35 publications

(33 citation statements)

References 154 publications

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“…It has a critical role in development [12] and due to its stability and ease of measurement is widely investigated both to understand mechanisms driving disease states, as well as for its potential to be used as a biomarker for numerous health and disease outcomes [13,14,15,16,17,18]. DNA methylation marks have been associated with diseases such as cancer, and therefore show promise for use as independent biomarkers.…”

Section: Epigeneticsmentioning

confidence: 99%

“…The use of epigenetic biomarkers in cancer is widely studied with a large number of reports investigating the use of DNA methylation biomarkers for diagnosis, predicting prognosis and therapeutic response. Numerous studies have repeatedly shown that DNA methylation changes in blood can be used as a biomarker for predicting cancer risk [13,15,19,24]. …”

Section: Epigeneticsmentioning

confidence: 99%

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Cord Blood DNA Methylation Biomarkers for Predicting Neurodevelopmental Outcomes

Hodyl

Roberts

Bianco‐Miotto

2016

Genes

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Adverse environmental exposures in pregnancy can significantly alter the development of the fetus resulting in impaired child neurodevelopment. Such exposures can lead to epigenetic alterations like DNA methylation, which may be a marker of poor cognitive, motor and behavioral outcomes in the infant. Here we review studies that have assessed DNA methylation in cord blood following maternal exposures that may impact neurodevelopment of the child. We also highlight some key studies to illustrate the potential for DNA methylation to successfully identify infants at risk for poor outcomes. While the current evidence is limited, in that observations to date are largely correlational, in time and with larger cohorts analyzed and longer term follow-up completed, we may be able to develop epigenetic biomarkers that not only indicate adverse early life exposures but can also be used to identify individuals likely to be at an increased risk of impaired neurodevelopment even in the absence of detailed information regarding prenatal environment.

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Section: Epigeneticsmentioning

confidence: 99%

Section: Epigeneticsmentioning

confidence: 99%

Cord Blood DNA Methylation Biomarkers for Predicting Neurodevelopmental Outcomes

Hodyl

Roberts

Bianco‐Miotto

2016

Genes

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“…Previous studies have shown the frequent methylation of genes involved in cell cycle regulation [cyclin dependent kinase inhibitor 2A ( P16 INK4A ), ARF tumor suppressor, cyclin dependent kinase inhibitor 2B, cyclin D2 ( CCDN2 ) and death associated protein kinase 1 ( DAPK )], DNA repair [O-6-methylguanine-DNA methyltransferase ( MGMT ) and MutL homolog 1], xenobiotic metabolism [glutathione S-transferase pi 1 ( GSTP1 )], signal transduction [retinoic acid receptor beta 2 ( RAR β 2 ), WNT signaling pathway regulator ( APC ) and estrogen receptor 2 ( ER β)], adhesion and metastasis (cadherin 1 and cadherin 13) in BC (13–16). As these alterations occurred in cancer tissues at a higher frequency, they are potentially useful biomarkers for detecting cancer (17).…”

Section: Introductionmentioning

confidence: 99%

Aberrant promoter methylation of cancer-related genes in human breast cancer

Shen²,

Peng

et al. 2016

Oncology Letters

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The clinical relevance of aberrant DNA methylation is being increasingly recognized in breast cancer. The present study aimed to evaluate the promoter methylation status of seven candidate genes and to explore their potential use as a biomarker for the diagnosis of breast cancer. A total of 70 Chinese patients with breast cancer were recruited, and matched with 20 patients with benign breast disease (BBD). Methylation-specific polymerase chain reaction was performed to measure the methylation status of selected genes. The protein expression of candidate genes was determined by immunohistochemistry. Hypermethylation of Breast cancer 1, early onset; DNA repair associated (BRCA1), glutathione S-transferase pi 1 (GSTP1), cyclin dependent kinase inhibitor 2A, O-6-methylguanine-DNA methyltransferase, phosphatase and tensin homolog, retinoic acid receptor beta 2 and cyclin D2 was observed to be more common in cancerous tissues (24.3, 31.4, 40.0, 27.1, 48.6, 55.7 and 67.1%, respectively) as compared with BBD controls (0.0, 0.0, 20.0, 25.0, 40.0, 40.0 and 45.0%, respectively). Immunohistochemical analysis demonstrated a correlation between the methylation of the target gene and downregulation of protein expression. When BRCA1 and GSTP1 were combined as the biomarker, the area under the receiver operating characteristic curve reached 0.721 (95% confidence interval, 0.616–0.827). The present findings indicated that promoter methylation of cancer-related genes was frequently observed in patients with breast cancer and was associated with various clinical features. Hypermethylation of BRCA1 and GSTP1 may be used as promising biomarkers for breast cancer.

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“…Indeed, these epigenomic signatures could serve as a unifying predictor of disease risk as a result of multiple adverse exposures. This is being exploited in various disease fields to identify, and to validate, DNA methylation and miRNA biomarkers of risk of asthma, cancer, osteoarthritis, age-related neurodegenerative diseases and many other conditions (DeVries & Vercelli 2015;Terry et al 2016;Jakubowski & Labrie 2017). One of the important challenges in this field is the heterogeneity of epigenetic marks in different cell types and tissues.…”

Section: Public Health Implicationsmentioning

confidence: 99%

Nutrition, epigenetics and health through life

Malcomson

Mathers

2017

Nutrition Bulletin

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Epigenetics describe heritable changes to the genome without changes to the DNA sequence itself. Epigenetic marks include DNA methylation and histone modifications, and epigenetic molecules include microRNAs. Epigenetic mechanisms modulate gene expression and so regulate many cellular processes such as cell proliferation and cell death. As a consequence, changes to the epigenome may have consequences for the function of cells, tissues and organs and may modify the risk of developing disease. Epigenetic marks and molecules change during development and also during ageing; as we age, global DNA methylation declines whilst some specific genes become hypermethylated. Unlike the genome (DNA sequence), the epigenome is not fixed and the constellation of epigenetic marks and molecules is influenced by environmental exposures, including diet. Therefore, epigenetics provides a mechanism though which nutrition modulates health and wellbeing throughout the life course and, importantly, a plausible mechanism for the long‐term effects of early life nutritional exposures. There is growing evidence of the specific nutrients and other food constituents that influence the epigenome but, to date, the molecular pathways through which nutritional exposures and status are transduced (received and recorded) remain to be elucidated. Epigenetic patterns are promising candidate diet‐related biomarkers of ageing and of disease risk and, therefore, may be useful as surrogate endpoints in nutritional epidemiology and in dietary intervention studies.

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Epigenetic Biomarkers of Breast Cancer Risk: Across the Breast Cancer Prevention Continuum

Cited by 35 publications

References 154 publications

Cord Blood DNA Methylation Biomarkers for Predicting Neurodevelopmental Outcomes

Cord Blood DNA Methylation Biomarkers for Predicting Neurodevelopmental Outcomes

Aberrant promoter methylation of cancer-related genes in human breast cancer

Nutrition, epigenetics and health through life

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