Tumorspecific DNA as early detection marker

Cancer exacts a tremendous toll on society. In addition to the devastating effects on patients and their families, the economic costs of breast cancer are enormous, both in terms of direct medical-care resources for its treatment and the loss of human capital due to early mortality. The concept of early detection - finding tumors early, before they spread and become incurable - represents one of the most promising approaches to reducing the growing cancer burden. In recent years much evidence has accumulated to show that alterations in the patterns of methylation of CpG dinucleotides, particularly de novo methylation of CpG islands, are very common in all types of human cancer. In this project we used the detection of aberrant patterns of DNA methylation in serum and other body fluids for detection of cancer. In proof of principle studies we could demonstrate that analysis of DNA methylation of certain genes in serum, stool and fluid collected on tampon is able to detect breast, colorectal and uterine tumors, respectively, with varying sensitivities and specificities. Results of these projects have laid the ground towards ultimately eliminating advanced cancers by means of early detection of cancers that can be removed by minimally invasive interventions.