卵巢癌患者BRCA1和BRCA2编码区基因突变频率及位点多态性分析  

Frequency and polymorphism of BRCA1 and BRCA2 in ovarian cancer patients

作　　者：魏伟锋[1] 黄利珊 伍博明 林海宏 WEI Wei-feng;HUANG Li-shan;WU Bo-ming;LIN Hai-hong(The People's Hospital of Meizhou,Meizhou,Guangdong 514031,China)

机构地区：[1]梅州市人民医院妇科,广东梅州514031

出　　处：《热带医学杂志》2020年第6期751-753,774,F0004,共5页Journal of Tropical Medicine

基　　金：广东省医学科研基金(C2018052)。

摘　　要：目的探讨卵巢癌患者BRCA1和BRCA2编码区基因突变频率及位点多态性。方法采用多重PCR技术,对107例卵巢癌患者行遗传性乳腺癌/卵巢癌基因BRCA1/2检测,对突变位点进行分析,检测有无单碱基突变、小片段插入及缺失突变以及突变的致病性,计算致病性突变频率,并分析突变基因与肿瘤免疫组化特征的关系。结果 107例患者中共发现BRCA1致病性突变7例,BRCA2致病性突变2例,均为错义杂合突变,总突变率为8.42%。而可能良性突变或意义不明突变共7例,大部分致病性突变为杂合移码突变(n=6),而无义杂合突变3例(2例BRCA2致病性突变均为无义杂合突变),无单碱基突变;携带BRCA1/2基因致病性突变患者的肿瘤标记物表达多为阳性,该基因突变与卵巢癌雌激素受体(ER)、孕激素受体(PR)、糖类抗原125(CA125)及Ki67的表达组间比较,差异有统计学意义(P<0.05)。结论卵巢癌患者BRCA1/2基因移码突变导致蛋白的翻译提前终止,增加了癌症风险,而突变位点的多态性与卵巢癌免疫指标的表达密切相关,可能是介导肿瘤恶性进展的重要机制之一。Objective To investigate the frequency and polymorphism of BRCA1 and BRCA2 in ovarian cancer patients.Methods Multiple PCR was used to detect BRCA1 and BRCA2 gene mutations in 107 ovarian cancer patients in our hospital.The pathogenicity of mutation,single base mutation,small fragment insertion and deletion mutation were analyzed.The frequency of pathogenic mutation was calculated and the relationship between the mutantions and the immunohistochemical characteristics of tumor was analyzed.Results 7 cases of BRCA1 pathogenic mutations and 2 cases of BRCA2 pathogenic mutations were found in 107 patients;all of which were missense heterozygous mutations,with a total mutation rate of 8.42%.Most of the pathogenic mutations were heterozygous shift mutations(n=6),while 3 cases of the BRCA1 mutations and 2 cases of the BRCA2 mutations were heterozygous mutation.No single base mutations.There were 7 cases of unexplained or possibly benign mutations.The expression of tumor markers in patients with pathogenic mutation of BRCA/2 gene was mostly positive,and there was a statistical difference between the gene mutation and the expression of estrogen receptor(ER),progesterone receptor(PR),CA125 and Ki67 in ovarian cancer(P<0.05).Conclusion The transcoding mutations of BRCA1/2 gene in ovarian cancer patients resulted in early termination of protein translation,which might increase the risk of cancer.Moreover,the polymorphisms of mutation sites were closely related to the expression of immune indicators of ovarian cancer,which might be one of the important mechanisms mediating malignant progression of tumor.

关 键 词：卵巢癌 BRCA1/2 SNP 突变 

分 类 号：R737.31[医药卫生—肿瘤]