本文選題：遺傳性 + 家族性　； 參考：《西安交通大學(xué)學(xué)報(醫(yī)學(xué)版)》2017年05期

【摘要】：約20%~25%上皮性卵巢癌的發(fā)生與遺傳因素相關(guān)。遺傳相關(guān)的卵巢癌包括遺傳性卵巢癌和家族性卵巢癌。腫瘤的遺傳學(xué)特性和基因檢測技術(shù)的發(fā)展,使得人們可以通過家族中的先證者檢出與腫瘤相關(guān)的致病突變基因,找出其他攜帶有高危致病突變基因的家族成員,并進(jìn)行相應(yīng)的早期干預(yù),實現(xiàn)腫瘤的早期預(yù)防和發(fā)現(xiàn)。本文對與遺傳相關(guān)的卵巢癌的遺傳基礎(chǔ)、疾病特點、突變基因的檢測方法、先證者的處理、現(xiàn)階段面臨的問題及高危個體的疾病預(yù)防等方面進(jìn)行綜述,強調(diào)在臨床工作中重視與遺傳相關(guān)的卵巢癌,找出先證者并對其親屬的患病風(fēng)險進(jìn)行綜合評估并給出個體化的指導(dǎo)意見,踐行精準(zhǔn)醫(yī)學(xué)理念。
[Abstract]:About 20% of epithelial ovarian cancer is associated with genetic factors.Hereditary ovarian cancer includes hereditary ovarian cancer and familial ovarian cancer.With the development of genetic characteristics and gene detection techniques, it is possible to detect tumor-related mutagenesis genes and other family members carrying high-risk pathogenicity mutation genes through probands in the family.And carry on the corresponding early intervention to realize the early prevention and discovery of tumor.In this paper, the genetic basis, disease characteristics, detection methods of mutant genes, treatment of proband, problems faced at present and disease prevention of high-risk individuals are reviewed.The emphasis is placed on the importance of genetic related ovarian cancer in clinical work, the identification of proband, the comprehensive assessment of their relatives' risk, and the individualized guidance, so as to practice the concept of precision medicine.
【作者單位】： 西安交通大學(xué)第一附屬醫(yī)院婦產(chǎn)科;
【分類號】：R737.31
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本文編號：1770308