Multi-gene panel testing in breast cancer management

Christos Fountzilas, Virginia G. Kaklamani

Research output: Chapter in Book/Report/Conference proceedingChapter

21 Scopus citations


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.

Original languageEnglish (US)
Title of host publicationCancer Treatment and Research
PublisherSpringer International Publishing
Number of pages20
StatePublished - 2018

Publication series

NameCancer Treatment and Research
ISSN (Print)0927-3042


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

ASJC Scopus subject areas

  • Oncology
  • Cancer Research


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