Mutational characteristics determined using circulating tumor DNA analysis in triple‐negative breast cancer patients with distant metastasis

Abstract

Dear editor, Breast cancer has been considered as the most common malignancy and the leading cause of death in women worldwide [1]. Triple-negative breast cancer (TNBC) accounts for 10%-20% of breast cancers, which are characterized by the absence of estrogen receptor (ER), progesterone receptor (PR), and amplification of human epidermal growth factor receptor 2 (HER2) [2]. TNBC is well known for its rapid progressiveness, high rate of distant organ recurrence, and poor prognosis. Metastasis remains the major cause of death for patients with TNBCs. Up to date, the only direct treatment for metastatic TNBCs is chemotherapy, which has been challenged by tumor heterogeneity and drug resistance. Lack of effective targeted therapy for metastatic TNBCs impels researchers to focus on discovering potentially actionable targets through mutational profiling. Although next-generation sequencing (NGS) has shown valuable benefits in oncology, its use in metastatic TNBC demands attentions. On one hand, in view of cellular heterogeneity, the genomic profiles of tissue biopsies might not be representative for lethal tumors. There exists trauma, pain, and other safety issues when obtaining metastatic tissues in clinical practices, since metastatic TNBCs frequently involve distant organs including the liver, lungs, bones, or brain. Recently, circulating

Dynamic Analysis of Circulating Tumor DNA to Predict the Prognosis and Monitor the Treatment Response of Patients with Metastatic Triple-negative Breast Cancer: a prospective study

“…This difference may be due to the fact that the plasma-derived ctDNA contains smaller fragments than those that are typically found in tissue-derived tDNA. Meanwhile, compared with the results of other ctDNA identification studies, the distribution of frequent variants in the TNBC cohort was overall consistent (Davis et al, 2020;Rong et al, 2020;Wang et al, 2021). In the study by Chae et al, the concordance between all ctDNA-and tDNA-derived genes was also similar to that in our study (91.0%-94.2% vs. 98.75%) (Chae et al, 2017) (Figure 2B).…”

Dynamic analysis of circulating tumor DNA to predict the prognosis and monitor the treatment response of patients with metastatic triple-negative breast cancer: A prospective study

“…This difference may be due to the fact that the plasma-derived ctDNA contains smaller fragments than those that are typically found in tissue-derived tDNA. Meanwhile, compared with the results of other ctDNA identification studies, the distribution of frequent variants in the TNBC cohort was overall consistent ( Davis et al, 2020 ; Rong et al, 2020 ; Wang et al, 2021 ). In the study by Chae et al, the concordance between all ctDNA- and tDNA-derived genes was also similar to that in our study (91.0%–94.2% vs .…”

Estrogen receptor‐low breast cancer: Biology chaos and treatment paradox

“…Additionally, ER mRNA expression is not as important as protein expression, and they do not always correlate [ 7 ]. Considering all the above factors, it is still essential to carry out basic research to illustrate this issue further [ 41 , 42 ].…”