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[遗传性卵巢癌的管理]

[Management of hereditary ovarian cancer].

作者信息

Joó József Gábor, Ládi Szabolcs, Nagy B Zsolt, Langmár Zoltán

机构信息

Semmelweis Egyetem, Általános Orvostudományi Kar I. Szülészeti és Nőgyógyászati Klinika Budapest Baross u. 27. 1088.

出版信息

Orv Hetil. 2011 Oct 2;152(40):1596-608. doi: 10.1556/OH.2011.29218.

Abstract

Mutations in BRCA1 and BRCA2 genes account for the majority of hereditary breast and ovarian cancers. Approximately 10% of cases of ovarian cancer are due to germline mutations in BRCA1 and BRCA2. Ovarian cancer associated with BRCA1 and BRCA2 mutations has a distinct histological phenotype. This type of cancer is predominantly of serous or endometrioid histology and is high grade. Patients with BRCA1 or BRCA2 mutations should be offered risk-reducing salpingo-oophorectomy by age 40 years, or when childbearing is complete. Nowadays there are no differences between the treatments provided for sporadic and hereditary ovarian cancer, although there are indications that targeted therapy is effective in women with BRCA1/BRCA2-associated tumors. Retrospective studies reveal a high level of sensitivity to platinum agents in BRCA-associated tumors and initial trials show good efficacy and tolerability for polyADP-ribose polymerase inhibitors in mutation carriers with advanced ovarian cancers. These agents might also potentially be used in chemoprevention. Authors review the current management of hereditary ovarian cancer.

摘要

BRCA1和BRCA2基因的突变是大多数遗传性乳腺癌和卵巢癌的病因。约10%的卵巢癌病例归因于BRCA1和BRCA2的种系突变。与BRCA1和BRCA2突变相关的卵巢癌具有独特的组织学表型。这种类型的癌症主要为浆液性或子宫内膜样组织学类型,且分级较高。BRCA1或BRCA2突变的患者应在40岁时或完成生育后接受降低风险的输卵管卵巢切除术。目前,散发性和遗传性卵巢癌的治疗方法并无差异,不过有迹象表明靶向治疗对患有BRCA1/BRCA2相关肿瘤的女性有效。回顾性研究显示BRCA相关肿瘤对铂类药物高度敏感,初步试验表明聚ADP核糖聚合酶抑制剂对晚期卵巢癌突变携带者具有良好的疗效和耐受性。这些药物也可能潜在地用于化学预防。作者回顾了遗传性卵巢癌的当前治疗方法。

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