Analysis Of BRCA Gene Mutation And Clinical Data In 53 Patients With Platinum-sensitive Epithelial Ovarian Cancer

Objectives: The mutation rate,mutation site and mutation pattern of BRCA gene were detected in 53 patients with platinum-sensitive epithelial ovarian cancer.The correlation between clinical data and BRCA gene mutation was analyzed.The willingness and related factors of patients with ovarian cancer receiving genetic counseling and legacy testing of cancer.Methods: We selected 53 patients with platinum-sensitive epithelial ovarian cancer diagnosed and treated in the Fourth Hospital of Hebei Medical University from October 2017 to March 2018.The second generation sequencing technology was used to detect the gene mutations in the exons of BRCA1 gene and BRCA2 gene in all exonic regions and the introns in the upstream and downstream regulatory regions.According to the presence or absence of pathogenic mutations in BRCA genes,they were divided into two groups and their clinical characteristics were analyzed.Educating patients with pathogenic mutations in the BRCA gene and initially understanding the patient's willingness to perform genetic tests on their first-degree relatives.SPSS 21.0 statistical software was used for statistical analysis of the data,P<0.05 was statistically significant.Results: The total mutation rate of BRCA gene in patients with platinum-sensitive EOC was 34%(18/53).The mutation rates of BRCA1 and BRCA2 genes were 23%(12/53)and 11%(6/53),respectively.The family history of malignant tumors in carriers and non-carriers accounted for 39%(7/18),9%(5/35),and the family history of HBOC-related cancers accounted for 86%(6/7)of carriers.The HBOC-related cancer family history accounted for 60%(3/5);the early(I,II)patients in carriers and non-carriers accounted for 55%(10/18),26%(9/35),and late(Patients with stage III and IV accounted for 45%(8/18)and 74%(26/35),respectively.The above clinical data were compared between groups,P<0.05,with statistically significant differences.Statistically compare the diagnosed age,fertility,fallopian tubesterilization,initial symptoms and pre-treatment CA125 values,pathological tissue types of carriers and non-carriers,P>0.05,there was no statistically significant difference between the two.33.3%(6/18)carriers were willing to accept their first-degree relatives for BRCA gene detection,and the main reason for rejecting BRCA gene testing was subjective factors.Conclusion: The incidence of BRCA gene mutation in platinum sensitive EOC patients is higher than that in Chinese patients with total epithelial ovarian cancer.There was no correlation between the age of diagnosis,fertility,tubal sterilization,initial symptoms,pre-treatment CA125 values,and histopathological types.The incidence of family history of HBOC-related cancers and family history of malignant tumors in platinum-sensitive EOC patients is also relatively high;the proportion of BRCA gene-causing mutational ovarian cancer patients undergoing genetic testing by their first-degree relatives is low,and subjective factors are rejected for genetically-detected patients.