The Mutation Region Of PIK3CA Gene In Breast Cancer Tissues By Iron Torrent Sequencing Platform

Objective: Breast cancer is one of the most common malignant tumors in China.The incidence of breast cancer is the first in malignant tumor of China.With the appearance and rapid development of the next generation sequencing technology,it provides a theoretical and technical basis for further study on the heterogeneity of breast cancer.This study of 281 cases of invasive breast cancer and 30 cases of benign breast tumor frozen tissue sequencing platform technology using Ion Torrent to detect the mutation of PIK3 CA gene,through the collection and collation of clinical and pathological data,to study the relationship between PIK3 CA gene mutation and the clinical characteristics of patients with breast cancer.In order to make a contribution to the individualized treatment of PIK3 CA gene mutation detection.Materials and Methods: 1.Specimen and data collection: Informed consent was obtained from all subjects.Frozen tissue of 281 cases of primary invasive breast cancer and 30 cases of benign breast tumor were obtained from the surgical of breast surgery department of China Japan Union Hospital of Jilin University from March 2011 to March 2015.The tumor tissues were stored in liquid nitrogen less than 15 minutes after removal,and then stored in-80 DEG C refrigerator after pathological examination.All the patients had complete clinical and pathological data and immunohistochemical results.2.Experimental method: 281 cases of breast cancer tissues after DNA extraction,then preliminary determination of the concentration and purity of the qualified,according to Life Technology,the corresponding standard operating procedures for DNA library construction,sample preparation,template template in Ion Proton after enrichment,System sequencing.Quality control and analysis of Ion Torrent sequencing data.And the mutation sites were annotated by TUTE.3.Statistical analysis: Study on the application of SPSS23.0 software data for statistical analysis,the differences between groups of distribution analysis using multiple independent samples nonparametric test,and rate comparison between groups using chi square test.The difference was statistically significant with P < 0.05,P > 0.05 was not statistically significant.Result 1.PIK3 CA gene pathogenicmutations were detected in 108 cases of breast cancer(38.4% mutation rate)in 281 breast cancer patients,including 95.6% mutation gathered in the No.9,No.20 exon.2.There was no significant correlation between PIK3 CA gene mutation with tumor size,lymph node status,histological grade,PR status and HER2 expression(P > 0.05).There was a significant correlation between PIK3 CA gene mutation and ER status(P < 0.05).3.There was no significant correlation between No.9 and No.20 exon PIK3 CA gene mutationintumor size,lymph node status,histological grade,PR status and HER2 expression(P > 0.05).There was a significant correlation between No.9 and No.20 PIK3 CA gene mutation and ER status(P < 0.05).Conclusion 1.There was no significant correlation between PIK3 CA gene mutation with tumor size,lymph node status,histological grade,PR+/PR-and HER2 expression in breast cancer.However,there was a significant correlation between PIK3 CA gene mutation and ER+/ER-.2.There was no significant correlation between No.9 and No.20 exon PIK3 CA gene mutationintumor size,lymph node status,histological grade,PR status and HER2 expression.There was a significant correlation between No.9 and No.20 PIK3 CA gene mutation and ER status.3.PI3K/Akt signaling pathway is closely related to the occurrence and development of breast cancer.The inhibitors targeting this pathway will play an important role in breast cancer.The detection of PIK3 CA gene mutation is of great significance in guiding the establishment of clinical precision medical system4.Ion Torrent sequencing technology has the advantages of simple operation,fast speed and high precision sequencing and low cost advantages,especially for cancer gene in a comprehensive screening of highly specific,in order to better guide the treatment of patients,improve the therapeutic effect,suitable for clinical application.