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

Abstract

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).

Identification of Five Cytotoxicity-Related Genes Involved in the Progression of Triple-Negative Breast Cancer

“…This study has several contributions to breast cancer research. First of all, the previously identified key biomarkers of breast cancer are either related to the pathogenesis or related to progression ( Wang et al, 2021b ; Dameri et al, 2021 ; Gonzalez-Ericsson et al, 2021 ; Xing et al, 2021 ), and few biomarkers have been identified that are related to both occurrence and progression of TNBC. Here, we identified five key genes that played a role in the pathogenesis and progression of TNBC, suggesting their potential to be candidate therapeutic targets that benefit more patients.…”

MYCL promotes the progression of triple‑negative breast cancer by activating the JAK/STAT3 pathway

“…In addition, TNBC is at a high risk of early recurrence, and is associated with bone, visceral and brain metastases, low DFS and OS rates, and poor prognosis (6,30). The evolution of TNBC is a multiple gene, step and stage pathological process, and an imbalance between cell growth and death caused by abnormal signal transduction pathways is an important mechanism underlying the occurrence and development of TNBC (31). Therefore, a better understanding of the molecular events associated with the malignancy may help to understand the pathological process of TNBC.…”

Research progress on immunotherapy in triple‑negative breast cancer (Review)

“…Based on this result, Roche voluntarily withdrew atezolizumab for the treatment of PD-L1-positive metastatic TNBC. The differences observed in Impassion130 and Impassion131 may be caused by the following factors: i) Paclitaxel, not albumin-bound paclitaxel, require to be pre-administered steroids, which may have reduced the efficacy of atezolizumab; ii) paclitaxel and albumin-bound paclitaxel had different effects on tumor-infiltrating macrophages and TILs, and albumin-bound paclitaxel may have had a stronger stimulating activity on T lymphocytes; iii) the study lacked reliable biomarkers to predict the benefits of atezolizumab ( 75 ).…”