The Association between ANXA2 mutations and Clinical Pathological Features in Patients with Breast Cancer

Abstract Background Genetic mutations have been reported in many tumors. In this study, we aimed to examine whether ANXA2 mutations occur in breast cancer and to investigate their association with clinicopathological characteristics in patients. Materials and Methods We collected breast cancer and adjacent normal tissue samples from 112 patients, extracted total RNA, and performed PCR-SSCP and bidirectional Sanger sequencing. ANXA2 mutations were identified by NCBI BLAST (blastn and blastx), and their correlation with clinical data were analyzed. Results ANXA2 mutations were detected in breast cancer tissues (missense mutations 38.39%) at a higher incidence than in adjacent normal tissues (missense mutations 8.04%) and mainly located in domain and repeats 1. Moreover, mutations in breast cancer tissues were associated with clinical stages, molecular subtype, ER, PR, and lymph-node metastasis of patients. Within a mean follow-up time of 52.5 months, the 5-year OS of patients with missense mutations was lower than those without. Among those mutations, c.(350AG > GA), c.(375G > A), c.(487T > A) and c.(693G > A) were associated with younger patients. c.(350AG > GA) was related to higher clinical stage and lymph-node metastasis. c.(375G > A) was linked to HER2(-) cases, while c.(693G > A) tended to be TNBC cases. Conclusion ANXA2 missense mutations mainly occurred on domain and repeats 1 in breast cancer, which may be associated with pathogenesis, clinical stage, molecular subtyping, lymph node metastasis and 5-year OS of breast cancer. These mutations may contribute to the early screening, diagnosis, and targeted treatment of breast cancer.