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

    • 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BRCA1 16例,BRCA2 4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。

       

      Abstract:
      ObjectiveTo explore the relationship between BRCA1/2 mutation and clinicopathological features of epithelial ovarian cancer.
      MethodsThe 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.
      ResultsAmong 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).
      ConclusionsThe 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.

       

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