Multi-gene Panel Testing in Breast Cancer Management

  • Christos Fountzilas
  • Virginia G. KaklamaniEmail author
Part of the Cancer Treatment and Research book series (CTAR, volume 173)


Hereditary predisposition accounts for approximately 10% of all breast cancers and is mostly associated with germline mutations in high-penetrance genes encoding for proteins participating in DNA repair through homologous recombination (BRCA1 and BRCA2). With the advent of massive parallel next-generation DNA sequencing, simultaneous analysis of multiple genes with a short turnaround time and at a low cost has become possible. The clinical validity and utility of multi-gene panel testing is getting better characterized as more data on the significance of moderate-penetrance genes are collected from large, cancer genetic testing studies. In this chapter, we attempt to provide a general guide for interpretation of panel gene testing in breast cancer and use of the information obtained for clinical decision-making.


Hereditary breast cancer syndrome BRCA1/2 Deleterious mutations Gene panel testing Penetrance Prevention 


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Copyright information

© Springer International Publishing AG 2018

Authors and Affiliations

  1. 1.Cancer Therapy and Research CenterUniversity of Texas Health Science Center San AntonioSan AntonioUSA

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