Multi-Gene Testing Overview with a Clinical Perspective in Metastatic Triple-Negative Breast Cancer

International Journal of Molecular Sciences

Alberto Ballestrero¹  Lorenzo Ferrando¹  Gabriella Cirmena¹  Gabriele Zoppoli¹  Martina Dameri¹  Giancarlo Pruneri²  Claudio Vernieri³ 

[1] Department of Internal Medicine, University of Genoa, 16132 Genoa, Italy;Department of Pathology, Fondazione IRCCS Istituto Nazionale dei Tumori, 20133 Milan, Italy;Medical Oncology Department, Fondazione IRCCS Istituto Nazionale dei Tumori, 20133 Milan, Italy;

关键词: next-generation sequencing;    multi-gene testing;    gene panels;    breast cancer;    metastatic triple-negative breast cancer;    tumor mutational burden;   

DOI  :  10.3390/ijms22137154

来源: DOAJ

【 摘 要 】

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).

【 授权许可】

Unknown