Pan-Cancer Epigenetic Biomarker Selection from Blood Samples Using SAS

TL;DR

This study identifies 55 blood DNA methylation CpG sites as potential pan-cancer biomarkers for early detection, using SAS tools to analyze epigenetic data from monozygotic twin pairs.

Contribution

It introduces a novel approach for pan-cancer biomarker discovery using blood DNA methylation data analyzed with SAS, focusing on early detection before symptoms appear.

Findings

Identified 55 methylation CpG sites as biomarkers

Demonstrated potential for early cancer detection

Used SAS for epigenetic data analysis

Abstract

A key focus in current cancer research is the discovery of cancer biomarkers that allow earlier detection with high accuracy and lower costs for both patients and hospitals. Blood samples have long been used as a health status indicator, but DNA methylation signatures in blood have not been fully appreciated in cancer research. Historically, analysis of cancer has been conducted directly with the patient's tumor or related tissues. Such analyses allow physicians to diagnose a patient's health and cancer status; however, physicians must observe certain symptoms that prompt them to use biopsies or imaging to verify the diagnosis. This is a post-hoc approach. Our study will focus on epigenetic information for cancer detection, specifically information about DNA methylation in human peripheral blood samples in cancer discordant monozygotic twin-pairs. This information might be able to help us detect cancer much earlier, before the first symptom appears. Several other types of epigenetic data can also be used, but here we demonstrate the potential of blood DNA methylation data as a biomarker for pan-cancer using SAS 9.3 and SAS EM. We report that 55 methylation CpG sites measurable in blood samples can be used as biomarkers for early cancer detection and classification.