遗传性卵巢癌

Mohammed A. Osman
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引用次数: 4

摘要

大约10%到15%的卵巢癌与基因异常有关,包括乳腺癌易感基因(BRCA)突变和林奇综合征。这项工作的目的是提供全面和最新的审查这种独特类型的卵巢癌携带的遗传改变,其病理,预防,预后和管理。遗传性卵巢癌具有独特的病理和分子生物学特征。BRCA1和BRCA2突变卵巢癌最有可能是高级别浆液腺癌。许多brca1突变的肿瘤含有突变的p53基因、c-myc过表达和表皮生长因子受体过表达。临床上,遗传性卵巢癌比散发性卵巢癌出现的年龄更小。对于预防,降低风险输卵管卵巢切除术是有效的工具。口服避孕药的化学预防可能是一种选择。最近的一项研究表明,与BRCA1和BRCA2功能正常的患者相比,显示BRCA1和BRCA2突变的卵巢癌患者的无进展生存期和总生存期有所改善。最近的管理进展包括PARP(聚二磷酸腺苷{ADP}核糖)聚合酶抑制剂。近年来,在阐明BRCA1和BRCA2突变和Lynch综合征在卵巢癌预后和治疗中的作用方面取得了重大进展。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
Genetic Cancer Ovary

About 10% to 15% of ovarian cancers are linked to genetic abnormalities, including breast cancer susceptibility gene (BRCA) mutations, and Lynch syndrome. The aim of this work was to provide comprehensive and updated review of this distinct type of ovarian cancer that carries genetic alterations in relation to its pathology, prevention, prognosis, and management. Genetic ovarian cancer has a distinct pathologic and molecular biology features. BRCA1 and BRCA2 mutation ovarian cancers are most likely to be high-grade serous adenocarcinomas. Many BRCA1-mutated tumors harbor a mutant p53 gene, c-myc overexpression, and epidermal growth factor receptor overexpression. Clinically, genetic ovarian cancer presents at a younger age than sporadic ovarian cancer. For prevention, risk-reduction salpingo-oophorectomy is an effective tool. Chemoprevention by oral contraceptives may represent an option. A recent study demonstrates improved progression-free survival and overall survival in patients whose ovarian cancer displays BRCA1 and BRCA2 mutation, relative to those who have normal BRCA1 and BRCA2 function. Recent management advances include PARP (poly[adenosine diphosphate {ADP}–ribose] polymerases) inhibitors. Significant progress has been recently made in elucidating the role of BRCA1 and BRCA2 mutation and Lynch syndrome on ovarian cancer prognosis and management.

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