Multi-gene panel testing in breast cancer management

Christos Fountzilas, Virginia G. Kaklamani

Research output: Chapter in Book/Report/Conference proceedingChapter

3 Scopus citations

Abstract

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
Pages121-140
Number of pages20
DOIs
StatePublished - Jan 1 2018

Publication series

NameCancer Treatment and Research
Volume173
ISSN (Print)0927-3042

Keywords

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

ASJC Scopus subject areas

  • Oncology
  • Cancer Research

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  • Cite this

    Fountzilas, C., & Kaklamani, V. G. (2018). Multi-gene panel testing in breast cancer management. In Cancer Treatment and Research (pp. 121-140). (Cancer Treatment and Research; Vol. 173). Springer International Publishing. https://doi.org/10.1007/978-3-319-70197-4_8