74例上皮性卵巢癌患者BRCA基因突变状况及临床意义分析

目的： 统计上皮性卵巢癌（EOC）患者的胚系乳腺癌易感基因（BRCA）致病突变情况,分析其与临床病理特征的关系。方法： 收集2017年1月—2020年1月在天津市中心妇产科医院诊治的EOC患者的胚系BRCA 基因检测情况,并对BRCA基因致病突变与患者临床病理资料进行分析。结果： 74例EOC患者中BRCA1突变18例（24.3%）,BRCA2突变7例（9.5%）,主要突变方式包括框移突变15例,无义突变5例,突变主要集中在外显子编码区（CDS9和CDS10）。BRCA基因突变组和BRCA基因野生组患者的临床分期、组织病理学类型、淋巴结转移、血清CA-125水平、恶性肿瘤家族史进行比较,差异均无统计学意义（P>0.05）。BRCA基因突变组患者无复发生存期（RFS）长于BRCA基因野生组,差异有统计学意义（Z=-1.931,P=0.027）;2组患者遗传性乳腺癌卵巢癌综合征家族史（HBOC家族史）率比较差异有统计学意义（χ² =4.059,P=0.044）。结论： 有HBOC家族史的EOC患者的家系女性成员进行BRCA基因检测是筛查卵巢癌高危患者的有效手段。

Analysis of BRCA Gene Mutation Status and Clinical Significance in 74 Patients with Epithelial Ovarian Cancer

Objective： To analyze BRCA germline mutation in patients with epithelial ovarian cancer (EOC) and its relationship with clinical pathological features. Methods： The BRCA germline mutation results of 74 patients with EOC who received therapy at Tianjin Central Hospital of Gynecology Obstetrics from January 2017 to January 2020 were collected. Statistical analysis was performed on the relationship between BRCA mutation and clinical pathological features. Results： In 74 patients of EOC, the mutation rate of BRCA1 and BRCA2 were 24.3% and 9.5% respectively. The main mutation mode includes 15 cases of frame shift mutations and 5 cases of nonsense mutations. The mutations are mainly appears in the exon coding region (CDS9 and CDS10). There was no significant difference in the FIGO stage, pathological type, lymphatic metastasis status, serum levels of CA-125, family history of malignant tumor between BRCA-mutated patients and wild-type patients in this study (P>0.05). The recurrence-free survival (RFS) of patients with BRCA-mutated is longer than that of patients without BRCA-mutated, and the difference is statistically significant (Z=-1.931, P=0.027). Statistically significant correlations were observed between BRCA-mutated status and family history of hereditary breast cancer ovarian cancer syndrome (HBOC) ( χ ²=4.059, P=0.044). Conclusions： All female members of the family of EOC patients with family history of HBOC should undergo BRCA gene testing, which is an effective way to screen high-risk patients for ovarian cancer.