PDF(Pubmed)
Abstract：
Ovarian cancer is a leading cause of death among women with gynecological cancers, and is often diagnosed at advanced stages, leading to poor outcomes. This review explores genetic aspects of high-grade serous, endometrioid, and clear-cell ovarian carcinomas, emphasizing personalized treatment approaches. Specific mutations such as TP53 in high-grade serous and BRAF/KRAS in low-grade serous carcinomas highlight the need for tailored therapies. Varying mutation prevalence across subtypes, including BRCA1/2, PTEN, PIK3CA, CTNNB1, and c-myc amplification, offers potential therapeutic targets. This review underscores TP53\'s pivotal role and advocates p53 immunohistochemical staining for mutational analysis. BRCA1/2 mutations\' significance as genetic risk factors and their relevance in PARP inhibitor therapy are discussed, emphasizing the importance of genetic testing. This review also addresses the paradoxical better prognosis linked to KRAS and BRAF mutations in ovarian cancer. ARID1A, PIK3CA, and PTEN alterations in platinum resistance contribute to the genetic landscape. Therapeutic strategies, like restoring WT p53 function and exploring PI3K/AKT/mTOR inhibitors, are considered. The evolving understanding of genetic factors in ovarian carcinomas supports tailored therapeutic approaches based on individual tumor genetic profiles. Ongoing research shows promise for advancing personalized treatments and refining genetic testing in neoplastic diseases, including ovarian cancer. Clinical genetic screening tests can identify women at increased risk, guiding predictive cancer risk-reducing surgery.
摘要：
卵巢癌是妇科癌症女性死亡的主要原因，通常被诊断为晚期，导致糟糕的结果。这篇综述探讨了高级浆液的遗传方面，子宫内膜样,和透明细胞卵巢癌，强调个性化治疗方法。高级别浆液性癌中的TP53和低级别浆液性癌中的BRAF/KRAS等特定突变凸显了对定制治疗的需求。不同亚型的突变流行率，包括BRCA1/2，PTEN，PIK3CA,CTNNB1和c-myc扩增，提供了潜在的治疗靶点。这篇综述强调了TP53的关键作用，并主张p53免疫组织化学染色用于突变分析。讨论了BRCA1/2突变作为遗传危险因素的意义及其在PARP抑制剂治疗中的相关性，强调基因检测的重要性。这篇综述还讨论了卵巢癌中与KRAS和BRAF突变相关的矛盾的更好预后。ARID1A,PIK3CA,铂抗性的PTEN改变有助于遗传景观。治疗策略,如恢复WTp53功能和探索PI3K/AKT/mTOR抑制剂，被考虑。对卵巢癌遗传因素的不断发展的理解支持基于个体肿瘤遗传特征的量身定制的治疗方法。正在进行的研究表明，在肿瘤疾病中推进个性化治疗和完善基因检测有望，包括卵巢癌.临床基因筛查测试可以识别风险增加的女性，指导预测癌症风险降低手术。
