Next-generation sequencing based testing for breast cancer

Research output: Chapter in Book/Report/Conference proceedingChapter


The breast cancer can be sporadic or familial. Studies in the early 1990s lead to the recognition of the role of BRCA1 and BRCA2 genes in hereditary breast cancer. Next generation sequencing (NGS) technologies have permitted expansion of the number of genes that can be simultaneously analyzed for assessment of breast cancer risk. NGS has opened a large window into the complex biology of carcinogenesis and management of breast cancer. Mutation panels are now being commonly used in the making therapeutic decisions. In this chapter, we review the data on the gene panels being used for risk assessment and clinical management of patients and discuss the pros and cons of the approaches.

Original languageEnglish (US)
Title of host publicationMolecular Pathology of Breast Cancer
PublisherSpringer International Publishing
Number of pages30
ISBN (Electronic)9783319417615
ISBN (Print)9783319417592
StatePublished - Jan 1 2016

All Science Journal Classification (ASJC) codes

  • Medicine(all)


  • Mutation panels
  • NGS
  • Risk assessment
  • Therapy

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