医学
林奇综合征
子宫内膜癌
微卫星不稳定性
肿瘤科
结直肠癌
种系突变
生殖系
内科学
危险分层
癌症
DNA错配修复
基因
突变
等位基因
遗传学
生物
微卫星
作者
Elisa D’Agostino,Luciana Mastrodomenico,Ornella Ponzoni,Cinzia Baldessari,Claudia Piombino,Stefania Pipitone,Maria Giuseppa Vitale,Roberto Sabbatini,Massimo Dominici,Angela Toss
标识
DOI:10.1016/j.ctrv.2024.102723
摘要
Endometrial cancer (EC) incidence and mortality rates have been increasing, particularly among young females. Although more than 90% of ECs are sporadic, 5-10% are hereditary, a majority of which occurs within Hereditary Non-Polyposis Colorectal Cancer syndrome (HNPCC) or Lynch syndrome. The traditional histopathological classification differentiates EC between two main groups: type I (or endometrioid) and type II (including all other histopathological subtypes). However, this classification lacks reproducibility and does not account for the emerging molecular heterogeneity. In 2013, The Cancer Genome Atlas (TCGA) project proposed EC molecular classification defining four groups with different prognostic and predictive values and the current international guidelines are progressively establishing EC risk stratification and treatment based on both histopathological and molecular criteria. Our manuscript aims to summarize the current state of EC molecular characterizations, including germline alterations at the basis of hereditary EC predisposition, to discuss their clinical utility as prognostic and predictive markers.
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