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What to expect from high throughput genomics in metastatic breast cancers?
Concetta Elisa Onesti1, Cécile Vicier2, Fabrice André3
1Institut National de la Santé et de la Recherche Médicale (INSERM) U981, Institut de cancérologie Gustave Roussy, Villejuif, F-94800, France; Department of Medical Oncology, S. Andrea Hospital, University of Rome « Sapienza », Rome, Italy.
Abstract:
Breast cancer is a heterogeneous disease and its genomic characteristics have been widely studied in the last years. Although several progresses have been made, metastatic disease is still incurable in the majority of patients. Recent genomic studies have shown that a large number of candidate targets exist in breast cancer. Currently only two drivers have been validated (ER and HER2), but several others seem to be associated with objective response, such as PIK3CA mutations, FGFR1 amplifications, AKT1 mutations, EGFR amplifications and ERBB2 mutations. Beside driver identification, many other applications can be developed for genomics such as identification of lethal subclones, DNA repair defects or immune response against tumor. Most of the precision medicine programs currently use targeted sequencing. Nevertheless, whole exome sequencing, RNA sequencing, gene expression analysis, phosphoprotein detection, SNP arrays and ctDNA sequencing have been also proposed in clinical trials.
Insights
Genomic studies reveal numerous breast cancer targets beyond ER and HER2, including PIK3CA mutations, offering new avenues for treating metastatic disease. These advancements in genomic analysis are crucial for precision medicine and improving patient outcomes.
Area of Science:
- Oncology
- Genomics
- Precision Medicine
Background:
- Breast cancer is a complex, heterogeneous disease with significant unmet needs, particularly in metastatic stages.
- Despite advances, metastatic breast cancer remains largely incurable for most patients.
- Genomic profiling has become essential for understanding breast cancer heterogeneity and identifying therapeutic targets.
Purpose of the Study:
- To review the current landscape of genomic alterations in breast cancer.
- To highlight validated and potential therapeutic targets identified through genomic studies.
- To explore diverse applications of genomics in breast cancer management beyond driver mutations.
Main Methods:
- Review of recent genomic studies in breast cancer.
- Analysis of validated and candidate driver mutations (e.g., ER, HER2, PIK3CA, FGFR1).
- Discussion of various genomic technologies used in clinical trials (e.g., targeted sequencing, whole exome sequencing, RNA sequencing, ctDNA sequencing).
Main Results:
- Several genomic alterations beyond ER and HER2 are associated with objective responses in breast cancer.
- Candidate targets include PIK3CA mutations, FGFR1 amplifications, AKT1 mutations, EGFR amplifications, and ERBB2 mutations.
- Genomics enables identification of lethal subclones, DNA repair defects, and tumor immune responses.
Conclusions:
- Genomic research has identified numerous potential therapeutic targets for breast cancer, improving precision medicine approaches.
- Advanced sequencing technologies are being integrated into clinical trials to further personalize treatment strategies.
- Understanding the genomic landscape is critical for developing effective therapies for metastatic breast cancer.
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