102例乳腺癌同源重组修复相关胚系基因突变研究
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1.南京医科大学第一附属医院乳腺病科;2.南京医科大学第一附属医院病理科

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国家自然科学基金项目(面上项目,重点项目,重大项目)


The study on the mutation of homologous recombination repair associated germline genes in 102 patients with breast cancer
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Affiliation:

Department of Breast Surgery,the First Affiliated Hospital with Nanjing Medical University

Fund Project:

The National Natural Science Foundation of China (General Program, Key Program, Major Research Plan)

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    摘要:

    目的:探讨乳腺癌患者同源重组修复(homologous recombination repair,HRR)相关胚系基因的突变情况及其与临床病理特征之间的关系。方法:检测本中心102例乳腺癌患者同源重组修复高度相关的21个胚系基因的变异情况,收集患者的年龄,肿瘤大小,淋巴结状态,病理类型及家族史等临床病理资料,统计分析基因突变与各临床病理特征之间的关系。结果:携带HRR相关胚系基因突变(含BRCA及非BRCA基因)的患者与未携带突变的患者在临床病理特征方面(如年龄,淋巴结状态,肿瘤大小和肿瘤分子分型等)并无统计学差异。携带BRCA突变的患者往往有肿瘤家族史(95%CI?0.997-6.142,P=0.047),尤其是乳腺癌和/或卵巢癌家族史(95%CI 1.227-9.953,P=0.015)。同时,ATM基因突变在Her-2(human epidermal growth factor receptor-2,Her-2)阳性患者中的发生率显著高于Her-2阴性患者(P=0.011)。结论:患者的肿瘤家族史,尤其是乳腺癌和/或卵巢癌家族史是发生BRCA突变的重要危险因素;Her-2阳性乳腺癌可能与ATM突变存在一定的相关性。

    Abstract:

    Objective: To investigate the mutation of homologous recombination repair (HRR) associated germline genes and the correlation between clinical characteristics and mutation status in breast cancer. Methods: The mutation status of 21 HRR associated?genes was detected by next-generation sequencing in 102 patients diagnosed with breast cancer in our center. The clinicopathological data of the patients was collected including the age, tumor size, lymph node status, pathological type and family tumor history. The association between the clinical pathological features and mutation status was analyzed. Results: There was no significant statistical difference between patients with mutation of HRR associated genes (BRCA or non-BRCA) and those without any mutation in clinical characteristics such as age, lymph node status, tumor size, pathological type and so on. Patients with BRCA mutation incline to have family history of tumor (95% CI 0.997-6.142, P= 0.047), especially for family history of breast and/or ovarian cancer (95% CI 1.227-9.953, P = 0.015). Also, the mutation rate of ATM in Her-2(human epidermal growth factor receptor-2, Her-2) positive patients was significantly higher than that in Her-2 negative patients (P = 0.011). Conclusion: The family history of tumor, especially of breast and/or ovarian cancer, is a vital risk factor for BRCA mutation; Her-2 positive breast cancer may be associated with ATM mutation.

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  • 收稿日期:2021-01-08
  • 最后修改日期:2021-03-10
  • 录用日期:2021-11-02
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