Identification Of Novel Epigenetic Biomarkers For Early Detection In Various Cancer Types




Goud, Santosh Mahadevana

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George Mason University


Epigenetic landscape of cancer cells undergoes profound and signicant changes duringthe development of human malignancies. In fact, global changes in the epigenetic landscapeare a hallmark of cancer. Histone modications and DNA methylation are prominentamong such changes. The genome undergoes a large-scale DNA methylation changes alongsideother alterations in a collective events of post-translational chromatin modicationsbeing observed. Such aberrant epigenetic changes have a high impact at various stages oftumorigenesis. Identication of such epigenetic aberrations for their use as predictive andprognostic biomarkers has been the focus of cancer genomics research recently. We haveselected ve genes of interest (ITPKA, GDF15, BLCAP, PIWIL4 and DMRT1) based onliterature search and identied each of them as novel epigenetic biomarkers in certain cancertypes. Such identied novel epigenetic methylation biomarker gene is subjected to SNVidentication by querying it against BioMuta and analyzing its relevant phenotypic eects.BioMuta is a curated single-nucleotide variation (SNV) and disease association database.Here, the variations are mapped to the genome/protein/gene. Such query helps to identifyvariations and since the database is compiled from various sources through bio curation, itpaves ways for prioritizing variations for further experimental evaluations. Furthermore,such identied epigenetic methylation biomarker gene is subjected to gene expression analysisby querying it against BioXpress database. BioXpress is a curated gene expression anddisease association database. Here, the expression levels are mapped to genes. BioXpressis useful in identifying dierences between expression levels in disease and normal pairsand to discover dierential expression for a gene. It also helps in identication of potentialbiomarkers or pathways that lead to tumor formation or to explore the overall expressionof specic genes across multiple cancer types. Upon additional validations, these ndingson novel epigenetic methylation biomarker gene will possibly open new avenues in translationmedicine and can be utilized as a novel prognostic biomarker for early stage cancerdetection.



Biomarkers, Database, Methylation