Analysis Of BRCA Gene Mutation And Clinical Characteristics In 116 Patients With Ovarian Cancer

Objective: Ovarian cancer is a malignant tumor that threatens women’s physical and mental health.Among the malignant tumors of female reproductive system,its mortality rate is high,and the five-year survival rate is the lowest.BRCA gene mutations increase the body’s risk of developing cancers,such as breast cancer,ovarian cancer,and pancreatic cancer in women and breast cancer and prostate cancer in men.This study intends to understand the BRCA gene mutation of ovarian cancer patients through genetic testing,collect and analyze its clinical characteristics,look for clinical indicators related to BRCA mutation to guide the diagnosis and treatment of ovarian cancer.Methods: A total of 116 patients with ovarian cancer（including fallopian tube cancer and primary peritoneal cancer）diagnosed in the Affiliated Hospital of Jining Medical College from January 2018 to August 2021 were included in the study,and germline BRCA gene detection was performed.Collect clinical information of patients（including age at diagnosis,menstrual status,personal cancer history（including personal breast cancer history）,family cancer history（including family history of breast and ovarian cancer,family history of digestive system cancer）,tumor markers（CA125,HE4）level,surgical method,pathological type,lymph node metastasis,exfoliative cytology,p53（marked as "+" for masculine and "-" for negative）,International Federation of Gynecology and Obstetrics（FIGO）staging,BRCA mutation information）.Empower Stats and R software were used for statistical analysis.The difference was statistically significant at P < 0.05.Results:1.In 116 patients with ovarian cancer（including fallopian tube cancer and primary peritoneal cancer）,we detected 37（31.9%）patients with pathogenic mutations,29 patients with BRCA1 mutations（25.0%）and 8 patients with BRCA2 mutations（6.9%）.The BRCA1 mutations c.5470＿5477del is the most common mutations in this study.2.BRCA mutations were associated with age at diagnosis（P=0.038）.The smooth curve fitting diagram showed a curvilinear relationship between age at diagnosis and BRCA mutation,showing an upward trend first and then downward trend.The BRCA mutation rate increased significantly between 40 and 60 years of age（P=0.0381）.3.BRCA mutations were associated with family history of breast and ovarian cancer（P=0.015）and digestive system cancer（P=0.044）.Univariate analysis showed that patients with a family history of digestive cancer were 1.9 times more likely to develop BRCA mutations than patients without a family history of digestive cancer（P=0.049）.4.BRCA mutation was not associated with menstrual status,personal history of cancer（including personal history of breast cancer）,family history of cancer,level of tumor markers（CA125,HE4）,surgical method,pathological type,lymph node metastasis,exfoliated cytology,p53 and FIGO stage（P values were greater than 0.05）.Conclusion: In this study,the incidence of BRCA gene mutation was high in ovarian cancer（including fallopian tube cancer and primary peritoneal cancer）.BRCA mutations were associated with age at diagnosis,family history of breast and ovarian cancer,and family history of digestive system cancer.We recommend BRCA gene testing for patients with a family history of malignancy and age at high risk for mutations,and cancer genetic counseling for healthy individuals with a high risk family history.