Integrated genomic characterization of endometrial carcinoma

Getz, Gad, Gabriel, Stacey B., Cibulskis, Kristian, Lander, Eric, Sivachenko, Andrey, Sougnez, Carrie, Lawrence, Mike, Kandoth, Cyriac, Dooling, David, Fulton, Robert, Fulton, Lucinda, Kalicki-Veizer, Joelle, McLellan, Michael D., O’Laughlin, Michelle, Schmidt, Heather, Wilson, Richard K., Ye, Kai, Ding, Li, Mardis, Elaine R., Ally, Adrian, Balasundaram, Miruna, Birol, Inanc, Butterfield, Yaron S. N., Carlsen, Rebecca, Carter, Candace, Chu, Andy, Chuah, Eric, Chun, Hye-Jung E., Dhalla, Noreen, Guin, Ranabir, Hirst, Carrie, Holt, Robert A., Jones, Steven J. M., Lee, Darlene, Li, Haiyan I., Marra, Marco A., Mayo, Michael, Moore, Richard A., Mungall, Andrew J., Plettner, Patrick, Schein, Jacqueline E., Sipahimalani, Payal, Tam, Angela, Varhol, Richard J., Gordon Robertson, A., Cherniack, Andrew D., Pashtan, Itai, Saksena, Gordon, Onofrio, Robert C., Schumacher, Steven E., Tabak, Barbara, Carter, Scott L., Hernandez, Bryan, Gentry, Jeff, Salvesen, Helga B., Ardlie, Kristin, Getz, Gad, Winckler, Wendy, Beroukhim, Rameen, Gabriel, Stacey B., Meyerson, Matthew, Hadjipanayis, Angela, Lee, Semin, Mahadeshwar, Harshad S., Park, Peter, Protopopov, Alexei, Ren, Xiaojia, Seth, Sahil, Song, Xingzhi, Tang, Jiabin, Xi, Ruibin, Yang, Lixing, Zeng, Dong, Kucherlapati, Raju, Chin, Lynda, Zhang, Jianhua, Todd Auman, J., Balu, Saianand, Bodenheimer, Tom, Buda, Elizabeth, Neil Hayes, D., Hoyle, Alan P., Jefferys, Stuart R., Jones, Corbin D., Meng, Shaowu, Mieczkowski, Piotr A., Mose, Lisle E., Parker, Joel S., Perou, Charles M., Roach, Jeff, Shi, Yan, Simons, Janae V., Soloway, Mathew G., Tan, Donghui, Topal, Michael D., Waring, Scot, Wu, Junyuan, Hoadley, Katherine A., Baylin, Stephen B., Bootwalla, Moiz S., Lai, Phillip H., Triche Jr, Timothy J., Van Den Berg, David J., Weisenberger, Daniel J., Laird, Peter W., Shen, Hui, Chin, Lynda, Zhang, Jianhua, Getz, Gad, Cho, Juok, DiCara, Daniel, Frazer, Scott, Heiman, David, Jing, Rui, Lin, Pei, Mallard, Will, Stojanov, Petar, Voet, Doug, Zhang, Hailei, Zou, Lihua, Noble, Michael, Lawrence, Mike, Reynolds, Sheila M., Shmulevich, Ilya, Arman Aksoy, B., Antipin, Yevgeniy, Ciriello, Giovanni, Dresdner, Gideon, Gao, Jianjiong, Gross, Benjamin, Jacobsen, Anders, Ladanyi, Marc, Reva, Boris, Sander, Chris, Sinha, Rileen, Onur Sumer, S., Taylor, Barry S., Cerami, Ethan, Weinhold, Nils, Schultz, Nikolaus, Shen, Ronglai, Benz, Stephen, Goldstein, Ted, Haussler, David, Ng, Sam, Szeto, Christopher, Stuart, Joshua, Benz, Christopher C., Yau, Christina, Zhang, Wei, Annala, Matti, Broom, Bradley M., Casasent, Tod D., Ju, Zhenlin, Liang, Han, Liu, Guoyan, Lu, Yiling, Unruh, Anna K., Wakefield, Chris, Weinstein, John N., Zhang, Nianxiang, Liu, Yuexin, Broaddus, Russell, Akbani, Rehan, Mills, Gordon B., Adams, Christopher, Barr, Thomas, Black, Aaron D., Bowen, Jay, Deardurff, John, Frick, Jessica, Gastier-Foster, Julie M., Grossman, Thomas, Harper, Hollie A., Hart-Kothari, Melissa, Helsel, Carmen, Hobensack, Aaron, Kuck, Harkness, Kneile, Kelley, Leraas, Kristen M., Lichtenberg, Tara M., McAllister, Cynthia, Pyatt, Robert E., Ramirez, Nilsa C., Tabler, Teresa R., Vanhoose, Nathan, White, Peter, Wise, Lisa, Zmuda, Erik, Barnabas, Nandita, Berry-Green, Charlenia, Blanc, Victoria, Boice, Lori, Button, Michael, Farkas, Adam, Green, Alex, MacKenzie, Jean, Nicholson, Dana, Kalloger, Steve E., Blake Gilks, C., Karlan, Beth Y., Lester, Jenny, Orsulic, Sandra, Borowsky, Mark, Cadungog, Mark, Czerwinski, Christine, Huelsenbeck-Dill, Lori, Iacocca, Mary, Petrelli, Nicholas, Rabeno, Brenda, Witkin, Gary, Nemirovich-Danchenko, Elena, Potapova, Olga, Rotin, Daniil, Berchuck, Andrew, Birrer, Michael, DiSaia, Phillip, Monovich, Laura, Curley, Erin, Gardner, Johanna, Mallery, David, Penny, Robert, Dowdy, Sean C., Winterhoff, Boris, Dao, Linda, Gostout, Bobbie, Meuter, Alexandra, Teoman, Attila, Dao, Fanny, Olvera, Narciso, Bogomolniy, Faina, Garg, Karuna, Soslow, Robert A., Levine, Douglas A., Abramov, Mikhail, Bartlett, John M. S., Kodeeswaran, Sugy, Parfitt, Jeremy, Moiseenko, Fedor, Clarke, Blaise A., Goodman, Marc T., Carney, Michael E., Matsuno, Rayna K., Fisher, Jennifer, Huang, Mei, Kimryn Rathmell, W., Thorne, Leigh, Van Le, Linda, Dhir, Rajiv, Edwards, Robert, Elishaev, Esther, Zorn, Kristin, Broaddus, Russell, Goodfellow, Paul J., Mutch, David, Schultz, Nikolaus, Liu, Yuexin, Akbani, Rehan, Cherniack, Andrew D., Cerami, Ethan, Weinhold, Nils, Shen, Hui, Hoadley, Katherine A., Kahn, Ari B., Bell, Daphne W., Pollock, Pamela M., Wang, Chen, A.Wheeler, David, Shinbrot, Eve, Karlan, Beth Y., Berchuck, Andrew, Dowdy, Sean C., Winterhoff, Boris, Goodman, Marc T., Gordon Robertson, A., Beroukhim, Rameen, Pashtan, Itai, Salvesen, Helga B., Laird, Peter W., Noble, Michael, Stuart, Joshua, Ding, Li, Kandoth, Cyriac, Blake Gilks, C., Soslow, Robert A., Goodfellow, Paul J., Mutch, David, Broaddus, Russell, Zhang, Wei, Mills, Gordon B., Kucherlapati, Raju, Mardis, Elaine R., Levine, Douglas A., Ayala, Brenda, Chu, Anna L., Jensen, Mark A., Kothiyal, Prachi, Pihl, Todd D., Pontius, Joan, Pot, David A., Snyder, Eric E., Srinivasan, Deepak, Kahn, Ari B., Mills Shaw, Kenna R., Sheth, Margi, Davidsen, Tanja, Eley Martin L. Ferguson, Greg, Demchok, John A., Yang, Liming, Guyer, Mark S., Ozenberger, Bradley A., Sofia, Heidi J., Kandoth, Cyriac, Schultz, Nikolaus, Cherniack, Andrew D., Akbani, Rehan, Liu, Yuexin, Shen, Hui, Gordon Robertson, A., Pashtan, Itai, Shen, Ronglai, Benz, Christopher C., Yau, Christina, Laird, Peter W., Ding, Li, Zhang, Wei, Mills, Gordon B., Kucherlapati, Raju, Mardis, Elaine R., & Levine, Douglas A. (2013) Integrated genomic characterization of endometrial carcinoma. Nature, 497(7447), pp. 67-73.

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Abstract

We performed an integrated genomic, transcriptomic and proteomic characterization of 373 endometrial carcinomas using array- and sequencing-based technologies. Uterine serous tumours and ∼25% of high-grade endometrioid tumours had extensive copy number alterations, few DNA methylation changes, low oestrogen receptor/progesterone receptor levels, and frequent TP53 mutations. Most endometrioid tumours had few copy number alterations or TP53 mutations, but frequent mutations in PTEN, CTNNB1, PIK3CA, ARID1A and KRAS and novel mutations in the SWI/SNF chromatin remodelling complex gene ARID5B. A subset of endometrioid tumours that we identified had a markedly increased transversion mutation frequency and newly identified hotspot mutations in POLE. Our results classified endometrial cancers into four categories: POLE ultramutated, microsatellite instability hypermutated, copy-number low, and copy-number high. Uterine serous carcinomas share genomic features with ovarian serous and basal-like breast carcinomas. We demonstrated that the genomic features of endometrial carcinomas permit a reclassification that may affect post-surgical adjuvant treatment for women with aggressive tumours.

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ID Code: 60204
Item Type: Journal Article
Refereed: Yes
DOI: 10.1038/nature12113
ISSN: 1476-4687
Divisions: Current > Schools > School of Biomedical Sciences
Current > QUT Faculties and Divisions > Faculty of Health
Deposited On: 23 May 2013 22:45
Last Modified: 05 Feb 2014 00:04

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