Biomarkers in Women’s Cancers, Gynecology, and Obstetrics

Table 1

Different levels of biomarker research and application.

Analysis	Purpose
Methylation	Methylation analysis can reveal disease specific patterns of gene regulation.
Mutation analysis	Mutation analysis of affected tissues has been shown to be helpful in characterization of tumors and rare diseases.
Copy number variation	Copy number variation has been shown to be helpful in explaining tumor subtypes and identifying fetal chromosomal anomalies.
Chromosomal rearrangements	Chromosomal rearrangements are thought to explain new genomic effects seen in some tumors.
Genetic variation	Many diseases have been described to be partially caused by genetic variation. For many gynecologic diseases risk loci with high and low penetrance have been identified.
RNA expression	RNA expression of normal and diseased tissues has long been used to identify biomarkers for disease stage and prediction of therapies.
Proteomics	Modifications of proteins can be meaningful for their function and reveal additional functional information that supplements analysis of gene expression at the RNA level.
miRNA profiles	The number of small regulatory RNA sequences is growing and miRNAs are now understood as regulators for up to several hundreds of genes at once.