454P - Real-world genomic profiling of patients with advanced or metastatic triple-negative breast cancer in the UK and EU4: A systematic literature review

Background

Advanced or metastatic triple-negative breast cancer (A/M TNBC) is a detrimental disease with limited treatment options. Molecular subtyping of A/M TNBC has the potential to enhance diagnostic accuracy and further enable targeted therapies, given its high degree of heterogeneity. This systematic literature review (SLR) aimed to identify real-world evidence for genetic alterations among A/M TNBC patients.

Methods

Key biomedical databases (EMBASE®, MEDLINE®, MEDLINE-in-process) were searched to identify real-world studies assessing genomic alterations among A/M TNBC patients in the UK and EU4. The current review followed a standard HTA compliant two review process methodology for screening and data extraction.

Results

A total of three of 203 studies fulfilled the inclusion criteria. All three studies were conference proceedings, with one study each conducted in Spain, Italy, and the UK. A total of 399 A/M TNBC patients were analyzed for genetic profiling across these studies, using either digital droplet PCR (ddPCR), error-corrected 73-gene targeted panel (Guardant360), or AVENIO Expanded ctDNA Analysis Kit. In the Gruppo Italiano Mammella 14 BIOMETA study, BRCAmu+ was detected among 8% of 195 mTNBC patients. Further, in the RegistEM study, 50% of 32 Spanish mTNBC patients had TP53mu+, followed by MAP2K1mu+ and APCmu+ (25% each). In the UK plasmaMATCH study, PIK3CA mutation was more prevalent (9.3% and 14.7% by ddPCR and targeted ctDNA panel, respectively), while ESR1mu+ was the least prevalent (0% and 0.7% by ddPCR and targeted ctDNA panel, respectively). The targeted ctDNA sequencing identified definite genomic profiles compared to ddPCR.

Conclusions

The current SLR highlights the scarcity of real-world evidence on genetic alterations in A/M TNBC. Molecular subtyping exhibits a significant potential in identifying specific genetic alterations, emphasizing the need for further research and larger-scale studies.

Clinical trial identification

Editorial acknowledgement

Legal entity responsible for the study

The authors.

Funding

Has not received any funding.

Disclosure

All authors have declared no conflicts of interest.