BRCA-mutated breast cancer: the unmet need, challenges and therapeutic benefits of genetic testing

Arun B, Couch FJ, Abraham J, Tung N, Fasching P (2024)

Publication Type: Journal article, Review article

Publication year: 2024

Journal

British Journal of Cancer Cancer Research UK

DOI: 10.1038/s41416-024-02827-z

Abstract

Mutations in the BRCA1 and/or BRCA2 genes (BRCAm) increase the risk of developing breast cancer (BC) and are found in ~5% of unselected patients with the disease. BC resulting from a germline BRCAm (gBRCAm) has distinct clinical characteristics along with increased sensitivity to DNA-damaging agents such as poly(ADP-ribose) polymerase (PARP) inhibitors and platinum-based chemotherapies, and potentially decreased sensitivity to cyclin-dependent kinase 4 and 6 (CDK4/6) inhibitors. Given the evolving treatment landscape for gBRCAm BC in early and advanced disease settings, timely determination of gBRCAm status is fundamental to facilitate the most effective treatment strategy for patients. However, many patients with gBRCAm are not identified due to suboptimal referral rates and/or a low uptake of genetic testing. We discuss current evidence for a differential response to treatment in patients with gBRCAm in early and advanced BC settings, including outcomes with PARP inhibitors, platinum-based chemotherapies, and CDK4/6 inhibitors, as well as ongoing treatment innovations and the potential of these treatment approaches. Current genetic testing strategies are also examined, including the latest guidelines on who and when to test for gBRCAm, as well as challenges to testing and how these may be overcome.

Authors with CRIS profile

Peter Fasching Professur für Translationale Frauenheilkunde und Geburtshilfe

Involved external institutions

University of Texas MD Anderson Cancer Center US United States (USA) (US) Mayo Clinic US United States (USA) (US) University of Cambridge GB United Kingdom (GB) Beth Israel Deaconess Medical Center (BIDMC) US United States (USA) (US)

How to cite

APA:

Arun, B., Couch, F.J., Abraham, J., Tung, N., & Fasching, P. (2024). BRCA-mutated breast cancer: the unmet need, challenges and therapeutic benefits of genetic testing. British Journal of Cancer. https://doi.org/10.1038/s41416-024-02827-z

MLA:

Arun, Banu, et al. "BRCA-mutated breast cancer: the unmet need, challenges and therapeutic benefits of genetic testing." British Journal of Cancer (2024).

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