Chapter 11 - Endometrial Cancer Genomics

Abstract

Endometrial cancers originate from epithelial cells lining the uterus and account for ~76,000 deaths annually among women worldwide. Histopathological subtypes of endometrial cancer include endometrioid and serous carcinomas, as well as carcinosarcomas. Recent whole exome sequencing of these three subtypes, including an integrated genomic analysis of endometrioid and serous endometrial cancers by The Cancer Genome Atlas, has uncovered both distinguishing and shared molecular features within their genomic landscapes. Consequently, we now understand that endometrioid and serous endometrial cancers can be classified into four distinct molecular subgroups: POLE (ultramutated), microsatellite instability (hypermutated), copy number low (microsatellite stable), and copy number high (serous-like). In this chapter, we review the current state of knowledge of endometrial cancer genomics, both in the context of histopathological subtypes and their underlying molecular subgroups, with an emphasis on the genes and pathways that are frequently perturbed.