作者
Siming Zhao, Murim Choi, John D Overton, Stefania Bellone, Dana M Roque, Emiliano Cocco, Federica Guzzo, Diana P English, Joyce Varughese, Sara Gasparrini, Ileana Bortolomai, Natalia Buza, Pei Hui, Maysa Abu-Khalaf, Antonella Ravaggi, Eliana Bignotti, Elisabetta Bandiera, Chiara Romani, Paola Todeschini, Renata Tassi, Laura Zanotti, Luisa Carrara, Sergio Pecorelli, Dan-Arin Silasi, Elena Ratner, Masoud Azodi, Peter E Schwartz, Thomas J Rutherford, Amy L Stiegler, Shrikant Mane, Titus J Boggon, Joseph Schlessinger, Richard P Lifton, Alessandro D Santin
发表日期
2013/2/19
期刊
Proceedings of the National Academy of Sciences
卷号
110
期号
8
页码范围
2916-2921
出版商
National Academy of Sciences
简介
Uterine serous carcinoma (USC) is a biologically aggressive subtype of endometrial cancer. We analyzed the mutational landscape of USC by whole-exome sequencing of 57 cancers, most of which were matched to normal DNA from the same patients. The distribution of the number of protein-altering somatic mutations revealed that 52 USC tumors had fewer than 100 (median 36), whereas 5 had more than 3,000 somatic mutations. The mutations in these latter tumors showed hallmarks of defects in DNA mismatch repair. Among the remainder, we found a significantly increased burden of mutation in 14 genes. In addition to well-known cancer genes (i.e., TP53, PIK3CA, PPP2R1A, KRAS, FBXW7), there were frequent mutations in CHD4/Mi2b, a member of the NuRD–chromatin-remodeling complex, and TAF1, an element of the core TFIID transcriptional machinery. Additionally, somatic copy-number variation was …
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S Zhao, M Choi, JD Overton, S Bellone, DM Roque… - Proceedings of the National Academy of Sciences, 2013