ABSTRACT

Breast cancer is the most common malignancy in women and accounts for 30% of all female cancer.1 The prevalence of the disease has increased in recent decades in part due to in an increasingly aging population and to increased detection following the introduction of mammographic screening. In addition, Western lifestyle changes have had an impact on established risk factors such as age at menarche, first pregnancy and menopause.2,3 The introduction of new treatments has led to improved patient survival and so the rate of mortality has not risen as sharply as the prevalence. However, the development of novel and improved strategies for reducing mortality remain a priority. Alternative approaches to breast cancer detection are needed both for developing countries, where the high cost of mammography precludes the use of this approach, and for the detection of premenopausal breast cancer. Accumulating data from studies of tumorspecific alterations in circulating cell-free DNA suggest that analysis of nucleic acids in blood could provide noninvasive tests for diagnosis and monitoring of breast cancers. The aim of this chapter is to review progress in the investigation of the clinical utility of plasma DNA and RNA analysis for determining breast cancer behavior and for early detection of breast cancer.