Correlation Analysis Between Gene Mutations And Clinicopathological Features In Epithelial Ovarian Cancer

Research purpose:Ovarian cancer is a common malignant tumor of the female reproductive system that poses a great threat to the health of women.Ovarian malignancies mainly originate from the epithelium,and the occurrence and progression of ovarian cancer requires the involvement of multiple components and factors,and mutations in specific genes can increase the risk of cancer and drive tumor development.Several studies have reported significant associations between genetic mutations and clinical phenotypes of cancer.In this study,we retrospectively analyzed the mutations of breast cancer susceptibility gene(BRCA),TP53 and homologous recombination repair(HRR)gene in patients with epithelial ovarian cancer in our hospital,and explored the correlation between the above genetic alterations and clinicopathological features by combining clinical and pathological data,in order to better guide the genetic testing of epithelial ovarian cancer while providing individualized and precise preventive,diagnostic and therapeutic measures for patients.Research methods:The clinical information of 70 patients with epithelial ovarian cancer admitted to the Second Hospital of Jilin University from January 2014 to October 2022 who met the inclusion criteria was collected,including the age of diagnosed tumor,FIGO stage,tumor marker(CA125)level,pathological type,pathological immunohistochemistry(P53,Ki67,WT1,ER,PR),BRCA1/2 gene,HRR gene,and TP53 gene mutations.SPSS24.0 was used for statistical processing,and P<0.05 suggested a statistical difference.Results of the study:1.Among 70 patients with epithelial ovarian cancer with BRCA gene testing information,the pathogenic mutation rates of BRCA1 and BRCA2 were 17.14% and10%,respectively,and the frequency of BRCA1 mutations was higher than that of BRCA2.The mutation types of BRCA pathogenic mutations were mainly frame shift mutation.2.There were no statistically significant differences in age at diagnosis,tumor stage,ER status,PR status and Ki67 level between the BRCA gene mutation group and the control group(P>0.05).The differences in CA125 level,pathological type,P53 status and WT1 status between the BRCA mutation group and the control group were statistically significant(P<0.05).The level of CA125 in patients with pathogenic mutations of BRCA gene was higher,the pathological type was mostly high-grade serous carcinoma,P53 was mostly mutant and WT1 was mostly positive.3.Among 35 patients with epithelial ovarian cancer with TP53 gene detection information,22 patients carried TP53 pathogenic mutations,and the mutation rate was 62.86%.The mutation types of TP53 pathogenic mutations were mainly missense mutations.4.The differences in age at diagnosis,tumor stage,CA125 level,ER status,PR status,and Ki67 expression level between the TP53 gene mutation group and the control group were not statistically significant(P>0.05).The differences in WT1 status and pathological type between TP53 mutation group and control group were statistically significant(P<0.05),and patients carrying pathogenic mutations of TP53 gene were mostly positive for WT1,and the pathological type was mostly high-grade serous carcinoma.5.The majority of pathogenic mutations in genes related to the homologous recombination repair pathway are BRCA1 and BRCA2 mutations.6.The gene mutations in epithelial ovarian cancer were correlated,and there were statistical differences in BRCA gene status and HRR gene status between the TP53 gene mutation group and control patients(P<0.05).7.There were statistical differences in pathological type,tumor stage,and CA125 levels between the P53 protein mutation group and the wild group(P<0.05).The pathological type of P53 protein mutation group was mostly seen in high-grade serous carcinoma,with more advanced tumor stage and higher CA125 level.8.Analysis of tumor stage in the WT1 protein-negative and positive groups showed P >0.05.There was a statistical difference between WT1 status and pathological type and CA125 level(P<0.05).The WT1 protein-positive group was more likely to have high-grade plasmacytoma and higher CA125 level.Conclusion:1.BRCA1 mutation is the most common pathogenic mutation of BRCA gene,and frameshift mutation is the most common type of mutation.BRCA gene mutation is more common among the pathogenic mutations of HRR gene.2.The pathogenic mutation of TP53 gene has a high frequency in epithelial ovarian cancer.The mutation types of TP53 pathogenic mutations were mainly missense mutation.The pathogenic mutation of TP53 gene is correlated with the pathological type of epithelial ovarian cancer,WT1 status and BRCA gene mutation.The probability of carrying BRCA gene pathogenic mutations in patients with TP53 gene pathogenic mutations was significantly higher than that in patients without TP53 gene pathogenic mutations.3.The status of P53 protein is correlated with the pathological stage,pathological type of epithelial ovarian cancer and CA125 level(P<0.05).WT1 status is correlated with pathological type of epithelial ovarian cancer and CA125 level(P<0.05).4.The pathogenic mutation of BRCA gene is correlated with WT1 status,P53 status,CA125 level,TP53 gene mutation and pathological type of epithelial ovarian cancer(P<0.05).5.The pathogenic mutation rate of BRCA is higher in patients with epithelial ovarian cancer.It is recommended that patients diagnosed with epithelial ovarian cancer,especially high-grade serous carcinoma,undergo genetic counseling and genetic testing.