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The genomics and genetics of endometrial cancer

Authors O'Hara AJ, Bell DW

Received 7 December 2011

Accepted for publication 4 January 2012

Published 6 March 2012 Volume 2012:2 Pages 33—47

DOI https://doi.org/10.2147/AGG.S28953

Review by Single-blind

Peer reviewer comments 3

Andrea J O’Hara,  Daphne W Bell 

National Human Genome Research Institute, Cancer Genetics Branch, National Institutes of Health, Bethesda, MD, USA

Abstract: Most sporadic endometrial cancers (ECs) can be histologically classified as endometrioid, serous, or clear cell. Each histotype has a distinct natural history, clinical behavior, and genetic etiology. Endometrioid ECs have an overall favorable prognosis. They are typified by high frequency genomic alterations affecting PIK3CA, PIK3R1, PTEN, KRAS, FGFR2, ARID1A (BAF250a), and CTNNB1 (β-catenin), as well as epigenetic silencing of MLH1 resulting in microsatellite instability. Serous and clear cell ECs are clinically aggressive tumors that are rare at presentation but account for a disproportionate fraction of all endometrial cancer deaths. Serous ECs tend to be aneuploid and are typified by frequent genomic alterations affecting TP53 (p53), PPP2R1A, HER-2/ERBB2, PIK3CA, and PTEN; additionally, they display dysregulation of E-cadherin, p16, cyclin E, and BAF250a. The genetic etiology of clear cell ECs resembles that of serous ECs, but it remains relatively poorly defined. A detailed discussion of the characteristic patterns of genomic alterations that distinguish the three major histotypes of endometrial cancer is reviewed herein.

Keywords: endometrial, cancer, genomics, genetics, sporadic


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