Suppr超能文献

[卵巢癌的BRCA诊断:自PARP抑制剂疗法引入以来的分子肿瘤检测]

[BRCA diagnostics of ovarian cancer : Molecular tumor testing since the introduction of PARP inhibitor therapy].

作者信息

Löser H, Heydt C, Büttner R, Markiefka B

机构信息

Institut für Pathologie, Uniklinik Köln, Kerpener Str. 62, 50937, Köln, Deutschland.

出版信息

Pathologe. 2017 Mar;38(2):117-126. doi: 10.1007/s00292-017-0274-0.

Abstract

Approximately 9000 women are diagnosed with ovarian cancer in Germany each year. The most common subtype is high-grade serous ovarian cancer. A relevant proportion of these tumors are associated with mutations in the breast and ovarian cancer susceptibility genes (BRCA1 and BRCA2) representing highly penetrant tumor suppressor genes with autosomal inheritance and play a crucial role in DNA repair mechanisms. These patients have predominantly germline mutations and less frequently have somatic BRCA mutations. Tumors harboring BRCA mutations show a significant improvement in progression-free survival under therapy with poly(adenosine diphosphate ribose) polymerase (PARP) inhibitors. In 2015 the first PARP inhibitor was approved for the therapy of high-grade serous ovarian cancer with BRCA mutations. Mutation analysis can be performed on formalin-fixed paraffin-embedded (FFPE) tumor tissue within a few days.

摘要

在德国,每年约有9000名女性被诊断出患有卵巢癌。最常见的亚型是高级别浆液性卵巢癌。这些肿瘤中有相当一部分与乳腺癌和卵巢癌易感基因(BRCA1和BRCA2)的突变有关,这些基因是具有常染色体遗传的高穿透性肿瘤抑制基因,在DNA修复机制中起关键作用。这些患者主要是种系突变,体细胞BRCA突变较少见。携带BRCA突变的肿瘤在接受聚(腺苷二磷酸核糖)聚合酶(PARP)抑制剂治疗后,无进展生存期有显著改善。2015年,首个PARP抑制剂被批准用于治疗伴有BRCA突变的高级别浆液性卵巢癌。可以在几天内对福尔马林固定石蜡包埋(FFPE)肿瘤组织进行突变分析。

文献检索

告别复杂PubMed语法,用中文像聊天一样搜索,搜遍4000万医学文献。AI智能推荐,让科研检索更轻松。

立即免费搜索

文件翻译

保留排版,准确专业,支持PDF/Word/PPT等文件格式,支持 12+语言互译。

免费翻译文档

深度研究

AI帮你快速写综述,25分钟生成高质量综述,智能提取关键信息,辅助科研写作。

立即免费体验