Breast Cancer Biomarkers for Risk Assessment, Screening, Detection, Diagnosis, and Prognosis



Breast cancer mortality can be prevented if the disease is detected early. During the past decade, progress has been made in identifying invasive and noninvasive biomarkers. Genetic biomarkers are based on mutations and single nucleotide polymorphisms (SNPs) associated with breast cancer and have potential use in screening high-risk populations to identify individuals who are likely to develop this disease. Among epigenetic biomarkers, hypermethylation of selected genes and specific microRNA (miR) profiling can be used for cancer detection, diagnosis, and prognosis. This chapter also discusses other biomarkers, such as proteomics, imaging, and glycomics, as well as the advantages of noninvasive biomarkers as compared to invasive biomarkers. Also covered are new approaches to currently available technologies and assays to make them suitable for clinical use. The ultimate goal for detection is to identify (a) biomarkers that can be assayed in samples that are collected noninvasively, (b) assays that are not expensive, and (c) biomarkers that show high sensitivity and specificity.


Biomarker Cancer Chromatin Diagnosis Early detection Epigenetics Genomic instability Histone Methylation MicroRNA Prognosis Proteomics Surveillance Validation 


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Copyright information

© Springer India 2014

Authors and Affiliations

  1. 1.Epidemiology and Genomics Research ProgramNational Cancer Institute, National Institutes of Health (NIH)RockvilleUSA
  2. 2.Centre for Genomics and Applied Gene Technology, Institute of Integrative Omics and Applied Biotechnology (IIOAB)Nonakuri, Purba MedinipurIndia

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