Molecular pathological epidemiology of colorectal neoplasia: an emerging transdisciplinary and interdisciplinary field

S Ogino, AT Chan, CS Fuchs, E Giovannucci - Gut, 2011 - gut.bmj.com
Colorectal cancer is a complex disease resulting from somatic genetic and epigenetic
alterations, including locus-specific CpG island methylation and global DNA or LINE-1 …

[HTML][HTML] Etiologic field effect: reappraisal of the field effect concept in cancer predisposition and progression

P Lochhead, AT Chan, R Nishihara, CS Fuchs… - Modern Pathology, 2015 - Elsevier
The term 'field effect'(also known as field defect, field cancerization, or field carcinogenesis)
has been used to describe a field of cellular and molecular alteration, which predisposes to …

Statistical methods for studying disease subtype heterogeneity

M Wang, D Spiegelman, A Kuchiba… - Statistics in …, 2016 - Wiley Online Library
A fundamental goal of epidemiologic research is to investigate the relationship between
exposures and disease risk. Cases of the disease are often considered a single outcome …

Von Hippel-Lindau (VHL) Inactivation in Sporadic Clear Cell Renal Cancer: Associations with Germline VHL Polymorphisms and Etiologic Risk Factors

LE Moore, ML Nickerson, P Brennan, JR Toro… - PLoS …, 2011 - journals.plos.org
Renal tumor heterogeneity studies have utilized the von Hippel-Lindau VHL gene to classify
disease into molecularly defined subtypes to examine associations with etiologic risk factors …

Dominantly inherited constitutional epigenetic silencing of MLH1 in a cancer-affected family is linked to a single nucleotide variant within the 5′ UTR

MP Hitchins, RW Rapkins, CT Kwok, S Srivastava… - Cancer cell, 2011 - cell.com
Constitutional epimutations of tumor suppressor genes manifest as promoter methylation
and transcriptional silencing of a single allele in normal somatic tissues, thereby …

Aberrant methylation patterns in cancer: a clinical view

A Videtic Paska, P Hudler - Biochemia medica, 2015 - hrcak.srce.hr
Sažetak Epigenetic mechanisms, such as DNA methylation, DNA hydroxymethylation, post-
translational modifications (PTMs) of histone proteins affecting nucleosome remodelling …

Constitutional epimutation as a mechanism for cancer causality and heritability?

MP Hitchins - Nature Reviews Cancer, 2015 - nature.com
Constitutional epimutation, which is an aberration in gene expression due to an altered
epigenotype that is widely distributed in normal tissues (albeit frequently mosaic), provides …

SNPs in sites for DNA methylation, transcription factor binding, and miRNA targets leading to allele-specific gene expression and contributing to complex disease risk …

M Vohra, AR Sharma, N Prabhu B, PS Rai - Public Health Genomics, 2021 - karger.com
Introduction: The complex genetic diversity among human populations results from an
assortment of factors acting at various sequential levels, including mutations, population …

In silico identification of single nucleotide variations at CpG sites regulating CpG island existence and size

N Shyamala, CL Kongettira, K Puranam, K Kupsal… - Scientific reports, 2022 - nature.com
Genetic and epigenetic modifications of genes involved in the key regulatory pathways play
a significant role in the pathophysiology and progression of multifactorial diseases. The …

The MGMT promoter SNP rs16906252 is a risk factor for MGMT methylation in glioblastoma and is predictive of response to temozolomide

RW Rapkins, F Wang, HTN Nguyen… - Neuro …, 2015 - academic.oup.com
Background Promoter methylation of O6-methylguanine-DNA methyltransferase (MGMT) is
an important predictive biomarker in glioblastoma. The T variant of the MGMT promoter …