Multi-Gene Testing Overview with a Clinical Perspective in Metastatic Triple-Negative Breast Cancer.
Martina DameriLorenzo FerrandoGabriella CirmenaClaudio VernieriGiancarlo PruneriAlberto BallestreroFrancesco RaveraPublished in: International journal of molecular sciences (2021)
Next-generation sequencing (NGS) is the technology of choice for the routine screening of tumor samples in clinical practice. In this setting, the targeted sequencing of a restricted number of clinically relevant genes represents the most practical option when looking for genetic variants associated with cancer, as well as for the choice of targeted treatments. In this review, we analyze available NGS platforms and clinical applications of multi-gene testing in breast cancer, with a focus on metastatic triple-negative breast cancer (mTNBC). We make an overview of the clinical utility of multi-gene testing in mTNBC, and then, as immunotherapy is emerging as a possible targeted therapy for mTNBC, we also briefly report on the results of the latest clinical trials involving immune checkpoint inhibitors (ICIs) and TNBC, where NGS could play a role for the potential predictive utility of homologous recombination repair deficiency (HRD) and tumor mutational burden (TMB).
Keyphrases
- copy number
- genome wide
- clinical practice
- genome wide identification
- clinical trial
- squamous cell carcinoma
- cancer therapy
- small cell lung cancer
- dna damage
- dna repair
- genome wide analysis
- randomized controlled trial
- decision making
- transcription factor
- oxidative stress
- papillary thyroid
- risk factors
- open label
- study protocol
- cell free
- childhood cancer
- phase iii
- bioinformatics analysis
- smoking cessation
- breast cancer risk