Genetic testing in women with breast cancer: implications for treatment

ABSTRACT

Introduction: Mutations in either the BRCA1 or BRCA2 genes are responsible for approximately 42,000 cases of breast cancer annually. Identifying these germline mutations in a woman with breast cancer is important because it can influence her immediate and long-term management and has important implications for other family members.

Areas covered: This review highlights how treatment-focussed genetic testing for BRCA1 and BRCA2 mutations can potentially influence cancer treatment and secondary prevention decisions in women with breast cancer.

Expert commentary: Testing women with breast cancer for BRCA1 and BRCA2 germline mutations has the potential to decrease cancer burden and improve cancer outcomes. It can help optimise surgical and systemic therapy approaches. Clinicians should actively consider whether genetic testing is appropriate for each woman with breast cancer, and if so should instigate it early in the treatment trajectory when it can most influence cancer care.

KEYWORDS:

• BRCA1
• BRCA2
• breast cancer
• chemotherapy
• genetic testing
• hereditary
• surgery
• treatment

Acknowledgments

The authors would like to thank Michael Friedlander and Alison Trainer for their critical reviews of an earlier version of the manuscript.

Declaration of interest

KA Phillips is an Australian National Breast Cancer Foundation (NBCF) Practitioner Fellow. The authors have no other relevant affiliations or financial involvement with any organization or entity with a financial interest in or financial conflict with the subject matter or materials discussed in the manuscript apart from those disclosed.

Additional information

Funding

This manuscript has not received any funding.