A narrative review of five multigenetic assays in breast cancer

BACKGROUND AND OBJECTIVE: Breast cancer is a highly heterogeneous disease. Its incidence rate is increasing year by year and the mortality rate is the highest in female malignant tumors. Even patients with the same clinical stage and pathological grade have different response to treatment and postoperative recurrence risk. Although the prognosis of breast cancer in China has been gradually improved, there is still a certain gap compared with the 5-year survival rate as high as 89% in developed countries. In recent years, with the continuous enrichment of molecular sequencing data of breast cancer, gene detection technology has important reference value in prognosis judgement and guiding treatment of early breast cancer. This article reviews the current application and latest progress of genetic tests in comprehensive treatment for breast cancer, with a view to promote the precise treatment of breast cancer in clinical practice. METHODS: We conducted searches using the MeSH terms ‘breast neoplasms’ and ‘genetic testing’ in the PubMed databases from root to 22 January 2021. We conducted an additional search in the National Comprehensive Cancer Network (NCCN) and American Society of Clinical Oncology (ASCO) guidelines to obtain additional information. The search was limited to English, Dutch, French and German articles and research involving humans. Out of the references screened, 51 articles were found eligible for inclusion finally. KEY CONTENT AND FINDINGS: The article reviews the mechanisms and clinical trials of five genetic tests including Oncotype Dx, Mammaprint, Endopredict, mRNA expression of 50 genes (PAM50) and breast cancer index (BCI) in comprehensive treatment for breast cancer. All these tools have been proved to have prognosis value, but only two of them, Oncotype Dx and Mammaprint, are recommended as predictive tools for chemotherapy by National Comprehensive Cancer Network (NCCN) and the American Society of Clinical Oncology (ASCO). CONCLUSIONS: In order to promote the comprehensive treatment of breast cancer to “precision” and “individualization” for further development, people have extensively researched on multigene testing technology represented by Oncotype Dx, Mammaprint, Endopredict and mRNA expression of 50 genes (PAM50) and breast cancer index (BCI). Each of these five tools has its advantages and limitation, which must be weighed in a wise application.