Breast Cancer Biomarkers and Treatment Strategies

Breast cancer is a heterogeneous disease characterised by a spectrum of molecular subtypes and clinical behaviours. Biomarkers such as oestrogen receptor (ER), progesterone receptor (PR) and human epidermal growth factor receptor 2 (HER2) remain central to subtype classification and selection of endocrine or targeted therapies. Advances in genomic profiling have expanded the repertoire of diagnostic and prognostic markers to include circulating tumour DNA (ctDNA), tumour-infiltrating lymphocytes (TILs) and gene-expression signatures that predict risk, therapeutic response and resistance. Precision oncology approaches now integrate multigene panels to guide neoadjuvant and adjuvant regimens, while liquid biopsies facilitate dynamic monitoring of treatment efficacy. Therapeutic strategies combine surgery, radiotherapy, chemotherapy, hormone therapy and biologics. Targeted agents such as cyclin-dependent kinase inhibitors, PI3K/AKT/mTOR inhibitors and antibody–drug conjugates have reshaped treatment paradigms, particularly in luminal and HER2-positive cancers. Immunotherapy, including immune-checkpoint blockade, is emerging as a viable option for selected subtypes, notably triple-negative breast cancer (TNBC). Nevertheless, intratumour heterogeneity and acquired resistance mechanisms pose ongoing challenges. A holistic understanding of biomarker networks and adaptive trial designs is essential to refine personalised treatment algorithms and improve global outcomes.

Research from Nature Portfolio

A comprehensive genomic analysis of over 2,400 primary breast tumours has delineated key mutation-driver genes and their associations with clinical subgroups. This work identified 40 recurrent driver genes, revealed subtype-specific co-occurring alterations and demonstrated that high intratumour heterogeneity correlates with poorer survival. Notably, PIK3CA mutations were linked to adverse outcomes in oestrogen-receptor-positive cohorts defined by distinct chromosomal amplifications. The study emphasises the importance of genome-based stratification for therapeutic decision-making and supports the design of subtype-tailored clinical trials incorporating targeted inhibitors.

Breast Cancer Biomarkers and Treatment Strategies publication trend

The graph below shows the total number of articles in breast cancer biomarkers and treatment strategies across all publications each year (not limited to Nature Index journals).

Technical terms

Biomarker: A molecular or cellular indicator used to detect or monitor disease status and predict treatment response.

Intratumour heterogeneity: Variability in genetic, epigenetic or phenotypic characteristics among cells within a single tumour.

Neoadjuvant chemotherapy: Cytotoxic therapy administered before surgical resection to reduce tumour burden and assess chemosensitivity.

PARP inhibitor: A small-molecule agent that impedes DNA repair enzymes, exploiting synthetic lethality in BRCA-deficient cancer cells.

Antibody–drug conjugate (ADC): A targeted therapeutic composed of an antibody linked to a cytotoxic payload, delivering chemotherapy directly to tumour cells.

Immune-checkpoint blockade: Immunotherapy that disrupts inhibitory pathways (e.g. PD-1/PD-L1) to enhance anti-tumour T-cell activity.

References

1. Advancements in clinical aspects of targeted therapy and immunotherapy in breast cancer. Molecular Cancer (2023).
2. Recent advances in targeted strategies for triple-negative breast cancer. Journal of Hematology & Oncology (2023).
3. The somatic mutation profiles of 2,433 breast cancers refine their genomic and transcriptomic landscapes. Nature Communications (2016).
4. Breast Cancer—Epidemiology, Risk Factors, Classification, Prognostic Markers, and Current Treatment Strategies—An Updated Review. Cancers (2021).