The long tail of oncogenic drivers in prostate cancer

被引：645

作者：

Armenia, Joshua ^{[1
,2
]}

Wankowicz, Stephanie A. M. ^{[3
,4
]}

Liu, David ^{[3
,4
]}

Gao, Jianjiong ^{[1
,2
]}

Kundra, Ritika ^{[1
,2
]}

Reznik, Ed ^{[1
,2
]}

Chatila, Walid K. ^{[1
,2
]}

Chakravarty, Debyani ^{[1
,2
]}

Han, G. Celine ^{[3
,4
]}

Coleman, Ilsa ^{[5
,6
]}

Montgomery, Bruce ^{[7
]}

Pritchard, Colin ^{[8
]}

Morrissey, Colm ^{[9
]}

Barbieri, Christopher E. ^{[10
]}

Beltran, Himisha ^{[11
,12
,13
]}

Sboner, Andrea ^{[10
]}

Zafeiriou, Zafeiris ^{[14
,15
]}

Miranda, Susana ^{[14
,15
]}

Bielski, Craig M. ^{[1
,2
]}

Penson, Alexander V. ^{[1
,2
]}

Tolonen, Charlotte ^{[4
]}

Huang, Franklin W. ^{[3
,4
]}

Robinson, Dan ^{[16
]}

Wu, Yi Mi ^{[16
]}

Lonigro, Robert ^{[16
]}

Garraway, Levi A. ^{[3
,4
]}

Demichelis, Francesca ^{[17
]}

Kantoff, Philip W. ^{[18
]}

Taplin, Mary-Ellen ^{[3
]}

Abida, Wassim ^{[18
]}

Taylor, Barry S. ^{[1
,2
,19
]}

Scher, Howard I. ^{[18
]}

Nelson, Peter S. ^{[5
,6
,7
]}

de Bono, Johann S. ^{[14
,15
]}

Rubin, Mark A. ^{[12
,13
]}

Sawyers, Charles L. ^{[1
]}

Chinnaiyan, Arul M. ^{[16
]}

Schultz, Nikolaus ^{[1
,2
,19
]}

Van Allen, Eliezer M. ^{[3
,4
]}

机构：

[1] Mem Sloan Kettering Canc Ctr, Human Oncol & Pathogenesis Program, 1275 York Ave, New York, NY 10021 USA

[2] Mem Sloan Kettering Canc Ctr, Marie Josee & Henry R Kravis Ctr Mol Oncol, 1275 York Ave, New York, NY 10021 USA

[3] Dana Farber Canc Inst, Dept Med Oncol, Boston, MA 02115 USA

[4] Broad Inst MIT & Harvard, Canc Program, Cambridge, MA 02142 USA

[5] Fred Hutchinson Canc Res Ctr, Div Human Biol, 1124 Columbia St, Seattle, WA 98104 USA

[6] Fred Hutchinson Canc Res Ctr, Div Clin Res, 1124 Columbia St, Seattle, WA 98104 USA

[7] Univ Washington, Dept Med, Seattle, WA USA

[8] Univ Washington, Dept Lab Med, Seattle, WA 98195 USA

[9] Univ Washington, Dept Urol, Seattle, WA 98195 USA

[10] Weill Cornell Med, Dept Pathol & Lab Med, New York, NY USA

[11] Weill Cornell Med, Dept Med, Div Med Oncol, New York, NY USA

[12] New York Presbyterian Hosp, Weill Cornell Med Coll, Englander Inst Precis Med, New York, NY USA

[13] Weill Cornell Med Coll, Sandra & Edward Meyer Canc Ctr, New York, NY USA

[14] Inst Canc Res, Div Clin Studies, Biomarkers Team, London, England

[15] Royal Marsden Hosp, London, England

[16] Univ Michigan, Michigan Ctr Translat Pathol, Ann Arbor, MI 48109 USA

[17] Univ Trento, Ctr Integrated Biol, Trento, Italy

[18] Mem Sloan Kettering Canc Ctr, Dept Med, 1275 York Ave, New York, NY 10021 USA

[19] Mem Sloan Kettering Canc Ctr, Dept Epidemiol & Biostat, New York, NY 10021 USA

来源：

NATURE GENETICS | 2018年 / 50卷 / 05期

关键词：

MUTATIONS; GENES; SPOP; TRANSCRIPTION; EVOLUTION; COFACTOR; GENOMICS; SAMPLES; SHARP;

D O I：

10.1038/s41588-018-0078-z

中图分类号：

Q3 [遗传学];

学科分类号：

071007 [遗传学];

摘要：

Comprehensive genomic characterization of prostate cancer has identified recurrent alterations in genes involved in androgen signaling, DNA repair, and PI3K signaling, among others. However, larger and uniform genomic analysis may identify additional recurrently mutated genes at lower frequencies. Here we aggregate and uniformly analyze exome sequencing data from 1,013 prostate cancers. We identify and validate a new class of E26 transformation-specific (ETS)-fusion-negative tumors defined by mutations in epigenetic regulators, as well as alterations in pathways not previously implicated in prostate cancer, such as the spliceosome pathway. We find that the incidence of significantly mutated genes (SMGs) follows a long-tail distribution, with many genes mutated in less than 3% of cases. We identify a total of 97 SMGs, including 70 not previously implicated in prostate cancer, such as the ubiquitin ligase CUL3 and the transcription factor SPEN. Finally, comparing primary and metastatic prostate cancer identifies a set of genomic markers that may inform risk stratification.

引用

页码：645 / +

页数：9

共 41 条

[1]

The Molecular Taxonomy of Primary Prostate Cancer [J].

Abeshouse, Adam ;

Ahn, Jaeil ;

Akbani, Rehan ;

Ally, Adrian ;

Amin, Samirkumar ;

Andry, Christopher D. ;

Annala, Matti ;

Aprikian, Armen ;

Armenia, Joshua ;

Arora, Arshi ;

Auman, J. Todd ;

Balasundaram, Miruna ;

Balu, Saianand ;

Barbieri, Christopher E. ;

Bauer, Thomas ;

Benz, Christopher C. ;

Bergeron, Alain ;

Beroukhim, Rameen ;

Berrios, Mario ;

Bivol, Adrian ;

Bodenheimer, Tom ;

Boice, Lori ;

Bootwalla, Moiz S. ;

dos Reis, Rodolfo Borges ;

Boutros, Paul C. ;

Bowen, Jay ;

Bowlby, Reanne ;

Boyd, Jeffrey ;

Bradley, Robert K. ;

Breggia, Anne ;

Brimo, Fadi ;

Bristow, Christopher A. ;

Brooks, Denise ;

Broom, Bradley M. ;

Bryce, Alan H. ;

Bubley, Glenn ;

Burks, Eric ;

Butterfield, Yaron S. N. ;

Button, Michael ;

Canes, David ;

Carlotti, Carlos G. ;

Carlsen, Rebecca ;

Carmel, Michel ;

Carroll, Peter R. ;

Carter, Scott L. ;

Cartun, Richard ;

Carver, Brett S. ;

Chan, June M. ;

Chang, Matthew T. ;

Chen, Yu .

CELL, 2015, 163 (04) :1011-1025

[2]

Prospective Genomic Profiling of Prostate Cancer Across Disease States Reveals Germline and Somatic Alterations That May Affect Clinical Decision Making [J].

Abida, Wassim ;

Armenia, Joshua ;

Gopalan, Anuradha ;

Brennan, Ryan ;

Walsh, Michael ;

Barron, David ;

Danila, Daniel ;

Rathkopf, Dana ;

Morris, Michael ;

Slovin, Susan ;

McLaughlin, Brigit ;

Curtis, Kristen ;

Hyman, David M. ;

Durack, Jeremy C. ;

Solomon, Stephen B. ;

Arcila, Maria E. ;

Zehir, Ahmet ;

Syed, Aijazuddin ;

Gao, Jianjiong ;

Chakravarty, Debyani ;

Vargas, Hebert Alberto ;

Robson, Mark E. ;

Vijai, Joseph ;

Offit, Kenneth ;

Donoghue, Mark T. A. ;

Abeshouse, Adam A. ;

Kundra, Ritika ;

Heins, Zachary J. ;

Penson, Alexander V. ;

Harris, Christopher ;

Taylor, Barry S. ;

Ladanyi, Marc ;

Mandelker, Diana ;

Zhang, Liying ;

Reuter, Victor E. ;

Kantoff, Philip W. ;

Solit, David B. ;

Berger, Michael F. ;

Sawyers, Charles L. ;

Schultz, Nikolaus ;

Scher, Howard I. .

JCO PRECISION ONCOLOGY, 2017, 1 :1-26

[3]

Punctuated Evolution of Prostate Cancer Genomes [J].

Baca, Sylvan C. ;

Prandi, Davide ;

Lawrence, Michael S. ;

Mosquera, Juan Miguel ;

Romanel, Alessandro ;

Drier, Yotam ;

Park, Kyung ;

Kitabayashi, Naoki ;

MacDonald, Theresa Y. ;

Ghandi, Mahmoud ;

Van Allen, Eliezer ;

Kryukov, Gregory V. ;

Sboner, Andrea ;

Theurillat, Jean-Philippe ;

Soong, T. David ;

Nickerson, Elizabeth ;

Auclair, Daniel ;

Tewari, Ashutosh ;

Beltran, Himisha ;

Onofrio, Robert C. ;

Boysen, Gunther ;

Guiducci, Candace ;

Barbieri, Christopher E. ;

Cibulskis, Kristian ;

Sivachenko, Andrey ;

Carter, Scott L. ;

Saksena, Gordon ;

Voet, Douglas ;

Ramos, Alex H. ;

Winckler, Wendy ;

Cipicchio, Michelle ;

Ardlie, Kristin ;

Kantoff, Philip W. ;

Berger, Michael F. ;

Gabriel, Stacey B. ;

Golub, Todd R. ;

Meyerson, Matthew ;

Lander, Eric S. ;

Elemento, Olivier ;

Getz, Gad ;

Demichelis, Francesca ;

Rubin, Mark A. ;

Garraway, Levi A. .

CELL, 2013, 153 (03) :666-677

[4]

Exome sequencing identifies recurrent SPOP, FOXA1 and MED12 mutations in prostate cancer [J].

Barbieri, Christopher E. ;

Baca, Sylvan C. ;

Lawrence, Michael S. ;

Demichelis, Francesca ;

Blattner, Mirjam ;

Theurillat, Jean-Philippe ;

White, Thomas A. ;

Stojanov, Petar ;

Van Allen, Eliezer ;

Stransky, Nicolas ;

Nickerson, Elizabeth ;

Chae, Sung-Suk ;

Boysen, Gunther ;

Auclair, Daniel ;

Onofrio, Robert C. ;

Park, Kyung ;

Kitabayashi, Naoki ;

MacDonald, Theresa Y. ;

Sheikh, Karen ;

Vuong, Terry ;

Guiducci, Candace ;

Cibulskis, Kristian ;

Sivachenko, Andrey ;

Carter, Scott L. ;

Saksena, Gordon ;

Voet, Douglas ;

Hussain, Wasay M. ;

Ramos, Alex H. ;

Winckler, Wendy ;

Redman, Michelle C. ;

Ardlie, Kristin ;

Tewari, Ashutosh K. ;

Mosquera, Juan Miguel ;

Rupp, Niels ;

Wild, Peter J. ;

Moch, Holger ;

Morrissey, Colm ;

Nelson, Peter S. ;

Kantoff, Philip W. ;

Gabriel, Stacey B. ;

Golub, Todd R. ;

Meyerson, Matthew ;

Lander, Eric S. ;

Getz, Gad ;

Rubin, Mark A. ;

Garraway, Levi A. .

NATURE GENETICS, 2012, 44 (06) :685-U107

[5]

Divergent clonal evolution of castration-resistant neuroendocrine prostate cancer [J].

Beltran, Himisha ;

Prandi, Davide ;

Mosquera, Juan Miguel ;

Benelli, Matteo ;

Puca, Loredana ;

Cyrta, Joanna ;

Marotz, Clarisse ;

Giannopoulou, Eugenia ;

Chakravarthi, Balabhadrapatruni V. S. K. ;

Varambally, Sooryanarayana ;

Tomlins, Scott A. ;

Nanus, David M. ;

Tagawa, Scott T. ;

Van Allen, Eliezer M. ;

Elemento, Olivier ;

Sboner, Andrea ;

Garraway, Levi A. ;

Rubin, Mark A. ;

Demichelis, Francesca .

NATURE MEDICINE, 2016, 22 (03) :298-305

[6]

SPOP mutation leads to genomic instability in prostate cancer [J].

Boysen, Gunther ;

Barbieri, Christopher E. ;

Prandi, Davide ;

Blattner, Mirjam ;

Chae, Sung-Suk ;

Dahija, Arun ;

Nataraj, Srilakshmi ;

Huang, Dennis ;

Marotz, Clarisse ;

Xu, Limei ;

Huang, Julie ;

Lecca, Paola ;

Chhangawala, Sagar ;

Liu, Deli ;

Zhou, Pengbo ;

Sboner, Andrea ;

de Bono, Johann S. ;

Demichelis, Francesca ;

Houvras, Yariv ;

Rubin, Mark A. .

ELIFE, 2015, 4

[7]

The cBio Cancer Genomics Portal: An Open Platform for Exploring Multidimensional Cancer Genomics Data [J].

Cerami, Ethan ;

Gao, Jianjiong ;

Dogrusoz, Ugur ;

Gross, Benjamin E. ;

Sumer, Selcuk Onur ;

Aksoy, Buelent Arman ;

Jacobsen, Anders ;

Byrne, Caitlin J. ;

Heuer, Michael L. ;

Larsson, Erik ;

Antipin, Yevgeniy ;

Reva, Boris ;

Goldberg, Arthur P. ;

Sander, Chris ;

Schultz, Nikolaus .

CANCER DISCOVERY, 2012, 2 (05) :401-404

[8]

Chakravarty Debyani, 2017, JCO Precis Oncol, V2017, DOI 10.1200/PO.17.00011

[9]

Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity [J].

Chang, Matthew T. ;

Asthana, Saurabh ;

Gao, Sizhi Paul ;

Lee, Byron H. ;

Chapman, Jocelyn S. ;

Kandoth, Cyriac ;

Gao, JianJiong ;

Socci, Nicholas D. ;

Solit, David B. ;

Olshen, Adam B. ;

Schultz, Nikolaus ;

Taylor, Barry S. .

NATURE BIOTECHNOLOGY, 2016, 34 (02) :155-+

[10]

Memorial Sloan Kettering-Integrated Mutation Profiling of Actionable Cancer Targets (MSK-IMPACT) A Hybridization Capture-Based Next-Generation Sequencing Clinical Assay for Solid Tumor Molecular Oncology [J].

Cheng, Donavan T. ;

Mitchell, Talia N. ;

Zehir, Ahmet ;

Shah, Ronak H. ;

Benayed, Ryma ;

Syed, Aijazuddin ;

Chandramohan, Raghu ;

Liu, Zhen Yu ;

Won, Helen H. ;

Scott, Sasinya N. ;

Brannon, A. Rose ;

O'Reilly, Catherine ;

Sadowska, Justyna ;

Casanova, Jacklyn ;

Yannes, Angela ;

Hechtman, Jaclyn F. ;

Yao, Jinjuan ;

Song, Wei ;

Ross, Dara S. ;

Oultache, Alifya ;

Dogan, Snjezana ;

Borsu, Laetitia ;

Hameed, Meera ;

Nafa, Khedoudja ;

Arcila, Maria E. ;

Ladanyi, Marc ;

Berger, Michael F. .

JOURNAL OF MOLECULAR DIAGNOSTICS, 2015, 17 (03) :251-264

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