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- 2017
重视与遗传相关的卵巢癌
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Abstract:
摘要：约20%～25%上皮性卵巢癌的发生与遗传因素相关。遗传相关的卵巢癌包括遗传性卵巢癌和家族性卵巢癌。肿瘤的遗传学特性和基因检测技术的发展，使得人们可以通过家族中的先证者检出与肿瘤相关的致病突变基因，找出其他携带有高危致病突变基因的家族成员，并进行相应的早期干预，实现肿瘤的早期预防和发现。本文对与遗传相关的卵巢癌的遗传基础、疾病特点、突变基因的检测方法、先证者的处理、现阶段面临的问题及高危个体的疾病预防等方面进行综述，强调在临床工作中重视与遗传相关的卵巢癌，找出先证者并对其亲属的患病风险进行综合评估并给出个体化的指导意见，践行精准医学理念。
ABSTRACT: The occurrence of 20 to 25 percent of ovarian cancer is associated with genetic factors. Hereditary ovarian cancer includes genetic ovarian cancer and familial ovarian cancer. The genetic characteristics of tumors and the development of gene testing technology make it possible to detect tumor-related mutational genes by testing the gene of the proband and thus identify the other family members at risk and intervene early so as to realize early prevention and detection of the cancer. The paper reviews the genetic basis and pathogenesis of hereditary ovarian cancer as well as methods of detecting mutational genes, management of the proband, problems at present, and disease prevention for high-risk individuals. It stresses that we should pay attention to hereditary ovarian cancer in clinical work, identify the proband, and make comprehensive evaluation of risks of the patients’ relatives so as to provide individualized guidance and carry out the concept of precision medicine
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