BRCA1/2基因突变与上皮性卵巢癌病人临床病理特征的关系  

Analysis of the relationship between BRCA1/2 gene mutation and clinicopathological characteristics of epithelial ovarian cancer

作　　者：邵均均 高威 SHAO Jun-jun;GAO Wei(Department of Gynecolical Oncology,The First Affiliated Hospital of Bengbu Medical College,Bengbu Anhui 233004,China;Department of Oncology Surgery,The First Affiliated Hospital of Bengbu Medical College,Bengbu Anhui 233004,China)

机构地区：[1]蚌埠医学院第一附属医院肿瘤妇科,安徽蚌埠233004 [2]蚌埠医学院第一附属医院肿瘤外科,安徽蚌埠233004

出　　处：《蚌埠医学院学报》2021年第10期1400-1403,1407,共5页Journal of Bengbu Medical College

摘　　要：目的:探究BRCA1/2突变与上皮性卵巢癌病人的临床病理特征关系。方法:对70例经病理确诊的上皮性卵巢癌病人进行BRCA基因检测,分析卵巢癌病人BRCA1/2突变情况,并分析BRCA1/2基因突变与卵巢癌病人的临床病理特征包括年龄、临床分期、病理类型、家族遗传性、铂类药物敏感性的关系。结果:70例上皮性卵巢癌病人中,20例存在BRCA1/2致病性突变,占28.5%,其中BRCA116例,BRCA24例;BRCA1/2致病性突变组高级别浆液性乳头状癌发生率、对铂类治疗药物敏感率、有家族史率均高于未突变组(P<0.05~P<0.01),2组年龄和临床分期比较差异无统计学意义(P>0.05)。结论:BRCA1/2突变的上皮性卵巢癌病人易复发、恶性程度较高,但对铂类药物敏感,BRC1/2基因突变的上皮性卵巢癌病人具有家族遗传性。Objective:To explore the relationship between BRCA1/2 mutation and clinicopathological features of epithelial ovarian cancer.Methods:The BRCA gene in 70 patients with epithelial ovarian cancer diagnosed by pathology was detected,the BRCA1/2 mutation was analyzed,and the relationship between BRCA1/2 mutation and clinicopathogical characterloistics of ovarian cancer patients(including age,clinical stage,pathological type,familial inheritance and platinum drug sensitivity)was analyzed.Results:Among 70 patients with epithelial ovarian cancer,20 cases with BRCA1/2 gene mutation were found(accounting for 28.5%),which included 16 cases with BRCA1/2 gene mutation and 4 cases with BRCA2 gene mutation.The incidence rate of high-grade papillary carcinoma,susceptibility to platinum therapy and family history in BRCA1/2 mutation group were higher than those in non-mutation group(P<0.05 to P<0.01),but there was no statistical significance in the age and clinical stage between two groups(P>0.05).Conclusions:The epithelial ovarian cancer with BRCA1/2 mutation is prone to recurrence,high grade malignancy,and sensitive to platinum drugs.The BRCA1/2 gene mutation in epithelial ovarian cancer patients is related to the family genetic history of the patients.

关 键 词：上皮性卵巢肿瘤 BRCA1/2 基因突变 

分 类 号：R737.31[医药卫生—肿瘤]