A5029097007- Epigenetics and DNA Methylation
- Genetic factors in colorectal cancer
- Colorectal Cancer Treatments and Studies
- Cancer-related gene regulation
- Genetic Associations and Epidemiology
- Genetic Syndromes and Imprinting
- Genetic Mapping and Diversity in Plants and Animals
- Inflammatory Bowel Disease
- Cutaneous Melanoma Detection and Management
- RNA modifications and cancer
- Genomics and Phylogenetic Studies
- Birth, Development, and Health
- Identity, Memory, and Therapy
- Molecular Biology Techniques and Applications
- Mast cells and histamine
- Cancer Genomics and Diagnostics
- Gastric Cancer Management and Outcomes
- Family Support in Illness
QIMR Berghofer Medical Research Institute
2013-2020
Laboratory of Molecular Genetics
2014
Abstract Background Despite the important role DNA methylation plays in transcriptional regulation, transgenerational inheritance of is not well understood. The genetic heritability has been estimated using twin pairs, although concern expressed whether underlying assumption equal common environmental effects are applicable due to intrauterine differences between monozygotic and dizygotic twins. We estimate on peripheral blood leukocytes Illumina HumanMethylation450 array a family based...
Abstract DNA methylation plays an important role in the regulation of transcription. Genetic control is a potential candidate for explaining many identified SNP associations with disease that are not found coding regions. We replicated 52,916 cis and 2,025 trans quantitative trait loci (mQTL) using from whole blood measured on Illumina HumanMethylation450 arrays Brisbane Systems Genetics Study (n = 614 177 families) Lothian Birth Cohorts 1921 1936 (combined n 1366). The mQTL SNPs were to be...
Our understanding of major depressive disorder (MDD) has focused on the influence genetic variation and environmental risk factors. Growing evidence suggests additional role epigenetic mechanisms influencing susceptibility for complex traits. DNA sequence within discordant monozygotic twin (MZT) pairs is virtually identical; thus, they represent a powerful design studying contribution factors to disease liability. The aim this study was investigate whether specific methylation profiles in...
Background & AimsColorectal cancer is an epigenetically heterogeneous disease, however, the extent and spectrum of CpG island methylator phenotype (CIMP) not clear.MethodsGenome-scale methylation transcript expression were measured by DNA Methylation RNA microarray in 216 unselected colorectal cancers, findings validated using The Cancer Genome Atlas 450K sequencing data. Mutations epigenetic regulators assessed CIMP-subtyped exomes.ResultsCIMP-high cancers dichotomized into CIMP-H1 CIMP-H2...
Formalin fixation and embedding of clinical tissue samples in paraffin is a common method for archiving biological material. These are often well annotated provide an invaluable resource research. However, this process storage leads to DNA damage fragmentation. The use from formalin fixed, paraffin‐embedded (FFPE) interrogate methylation levels on genome‐wide scale can pose challenges. We compared fresh matched FFPE using the Illumina Infinium HD Human Methylation 450K BeadChip platform with...
The CpG Island Methylator Phenotype (CIMP) is fundamental to an important subset of colorectal cancer; however, its cause unknown. CIMP associated with microsatellite instability but also found in BRAF mutant stable cancers that are poor prognosis. isocitrate dehydrogenase 1 (IDH1) gene causes glioma due activating mutation produces the 2-hydroxyglutarate oncometabolite. We therefore examined IDH1 alteration as a potential cancer. mutational hotspot was screened 86 CIMP-positive and 80...
DNA methylation plays an important role in the regulation of transcription. Genetic control is a potential candidate for explaining many identified SNP associations with disease that are not found coding regions. We replicated 52,916 cis and 2,025 trans quantitative trait loci (mQTL) using measured on Illumina HumanMethylation450 arrays Brisbane Systems Genetics Study (n=614 from 177 families) Lothian Birth Cohorts 1921 1936 (combined n = 1366). The mQTL SNPs were to be over-represented 1Mbp...
Abstract BACKGROUND: Colorectal cancer is an epigenetically heterogeneous disease, however the extent and spectrum of CpG Island Methylator Phenotype (CIMP) not clear. RESULTS An unselected cohort 216 colorectal cancers clustered into five clinically molecularly distinct subgroups using Illumina 450K DNA methylation arrays. CIMP-High were most frequent in proximal colons female patients. These dichotomised CIMP-Hl CIMP-H2 based on profile which was supported by over representation BRAF (74%,...