早期发病的卵巢癌<30岁:我们对其遗传倾向了解多少?
Klara Horackova1, Marketa Janatova1, Petra Kleiblova1,2
1Institute of Medical Biochemistry and Laboratory Diagnostics, First Faculty of Medicine, Charles University and General University Hospital in Prague, 128 00 Prague, Czech Republic.
International journal of molecular sciences
|December 9, 2023
概括
早期发病的卵巢癌 (OC) 是罕见的,生殖系致病变体 (GPV) 不常见. 本综述探讨了GPV之外的遗传因素,这些因素可能会导致OC的年轻女性遗传性倾向.
科学领域:
- 妇科 妇科 妇科 妇科
- 在瘤学瘤学.
- 遗传学 是一个遗传学.
背景情况:
- 卵巢癌 (OC) 是女性癌症死亡的主要原因,大多数病例在老年人中被诊断为晚期.
- 早期开始的成年OC (≤30岁) 是罕见的 (<5%的病例),挑战了关于遗传性癌症倾向的传统假设.
研究的目的:
- 审查当前关于对早期发生表皮性OC的遗传倾向的知识.
- 在没有已知的生殖系致病变体 (GPVs) 的患者中探索影响早期开始的OC的替代遗传因素.
主要方法:
- 文献综述侧重于早期发生的OC的遗传倾向.
- 在已知OC倾向基因 (例如BRCA1/2,RAD51C/D,林奇综合征) 中对GPV的分析.
主要成果:
- 在早期发病的OC病例中,GPVs的存在率不到10%,其中BRCA1/2是最常见的.
- 在早期开始的OC中,GPVs的遗传性是不确定的.
- 其他遗传因素,如二基因,寡基因,多基因遗传,马赛克和印记可能起作用.
结论:
- 遗传倾向于早期开始的OC是复杂的,不仅仅由已知的GPVs来解释.
- 对替代遗传因素的进一步研究对于了解和管理早期发病的OC非常重要.
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