Genetics of Endometrial Carcinoma
作者： M. Angeles López-García , Begoña Vieites , M. Angeles Castilla , Laura Romero-Pérez , Juan Díaz-Martín
DOI: 10.1007/978-94-007-5842-1_11
关键词:
摘要: Endometrial cancer (EC) is the most common gynaecological malignancy in western world and it comprises a heterogeneous group of tumours with distinct risk factors, clinical presentation, histopathological features. Two main groups EC exist, endometrioid endometrial carcinomas (EECs or type I) non carcinoma (NEECs II), which evolve via molecular pathways. The alterations associated EECs affect phosphoinositide 3-kinase (PI3K)/Akt pathway due to mutations PTEN PI3KCA. Other pathways, such as RAS-RAF-MEK-ERK, FGF WNT signalling pathways are also frequently affected by gene epigenetic changes. In addition, sporadic characterized microsatellite instability DNA mismatch repair (MMR) deficiency secondary promoter hypermethylation MLH1. second frequent hereditary Lynch syndrome. MMR these patients germline MLH1, MSH2 MSH6. Finally, ARID1A have been recently described subset EECs.
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