Opportunities and challenges of next-generation DNA sequencing for breast units

Author:

Pilgrim S M1,Pain S J2,Tischkowitz M D34

Affiliation:

1. Cambridge Breast Unit, University of Cambridge, Cambridge, UK

2. Department of General Surgery, Norfolk and Norwich University Hospital, Norwich, UK

3. East Anglian Medical Genetics Service, Addenbrooke's Hospital, University of Cambridge, Cambridge, UK

4. Department of Medical Genetics, University of Cambridge, Cambridge, UK

Abstract

Abstract Background The aim of this review is to introduce the topic of next-generation DNA sequencing, a new technology that is being introduced into clinical practice, and to explain the potential impact for breast cancer surgeons and the wider breast cancer multidisciplinary team. Methods The PubMed database was used to identify relevant studies relating to breast cancer genetics. This evidence was then used to provide context and background information to demonstrate how next-generation sequencing (NGS) might change breast cancer practice. Results With NGS, breast cancer clinicians will know whether their patients carry high-risk mutations in genes, such as BRCA1 or BRCA2, before the start of treatment. This could alter treatment decisions; for instance, more women might opt for mastectomy instead of breast-conserving surgery, or for bilateral rather than unilateral surgery. Conclusion The introduction of NGS will have a significant impact on breast cancer services in the near future. Speed of testing will improve in regions of the world where NGS is adopted in place of conventional sequencing, and, as costs decrease, genetic testing will also become accessible and realistic in less well funded health economies. This will create opportunities to improve patient treatment and challenges for the breast cancer multidisciplinary team.

Funder

European Research Council

Publisher

Oxford University Press (OUP)

Subject

Surgery

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