44 research outputs found
Integrated Molecular Characterization of Uterine Carcinosarcoma
- Author
- Akbani Rehan
- Ally Adrian
- Auman J. Todd
- Balasundaram Miruna
- Balu Saianand
- Baylin Stephen B.
- Beroukhim Rameen
- Bodenheimer Tom
- Bogomolniy Faina
- Boice Lori
- Bootwalla Moiz S.
- Bowen Jay
- Bowlby Reanne
- Broaddus Russell
- Broaddus Russell R.
- Brooks Denise
- Carlsen Rebecca
- Cherniack Andrew D.
- Cho Juok
- Chuah Eric
- Chudamani Sudha
- Cibulskis Kristian
- Cline Melissa
- Dao Fanny
- David Mutch
- Demchok John A.
- Dhalla Noreen
- Dowdy Sean
- Felau Ina
- Ferguson Martin L.
- Frazer Scott
- Frick Jessica
- Gabriel Stacey
- Gastier-Foster Julie M.
- Gehlenborg Nils
- Gerken Mark
- Getz Gad
- Gupta Manaswi
- Haussler David
- Hayes D. Neil
- Heiman David I.
- Hess Julian
- Hoadley Katherine A.
- Hoffmann Robert
- Holt Robert A.
- Hoyle Alan P.
- Hu Xin
- Huang Mei
- Hutter Carolyn M.
- Jefferys Stuart R.
- Jones Corbin D.
- Jones Steven J.M.
- Kanchi Rupa S.
- Kandoth Cyriac
- Kasaian Katayoon
- Kerr Sarah
- Kim Jaegil
- Kucherlapati Raju
- Lai Phillip H.
- Laird Peter W.
- Lander Eric
- Lawrence Michael S.
- Lee Darlene
- Leraas Kristen M.
- Leshchiner Ignaty
- Levine Douglas A.
- Lichtenberg Tara M.
- Lin Pei
- Ling Shiyun
- Liu Jia
- Liu Wenbin
- Liu Yuexin
- Lolla Laxmi
- Lu Yiling
- Ma Yussanne
- Maglinte Dennis T.
- Marra Marco A.
- Mayo Michael
- Meng Shaowu
- Meyerson Matthew
- Mieczkowski Piotr A.
- Mills Gordon B.
- Moore Richard A.
- Mose Lisle E.
- Mungall Andrew J.
- Mungall Karen
- Murray Bradley A.
- Naresh Rashi
- Noble Michael S.
- Olvera Narciso
- Parker Joel S.
- Perou Amy H.
- Perou Charles M.
- Pihl Todd
- Radenbaugh Amie J.
- Ramirez Nilsa C.
- Rathmell W. Kimryn
- Roach Jeffrey
- Robertson A. Gordon
- Robertson Gordon
- Sadeghi Sara
- Saksena Gordon
- Salvesen Helga B.
- Schein Jacqueline E.
- Schumacher Steven E.
- Shen Hui
- Sheth Margi
- Shi Yan
- Shih Juliann
- Simons Janae V.
- Sipahimalani Payal
- Skelly Tara
- Sofia Heidi J.
- Soloway Matthew G.
- Soslow Robert A.
- Sougnez Carrie
- Stewart Chip
- Sun Charlie
- Tam Angela
- Tan Donghui
- Tarnuzzer Roy
- Thiessen Nina
- Thorne Leigh B.
- Tse Kane
- Tseng Jill
- Van Den Berg David J.
- Veluvolu Umadevi
- Verhaak Roel G.W.
- Voet Doug
- von Bismarck Amanda
- Walter Vonn
- Wan Yunhu
- Wang Chen
- Wang Zhining
- Weinstein John N.
- Weisenberger Daniel J.
- Wilkerson Matthew D.
- Winterhoff Boris
- Wise Lisa
- Wong Tina
- Wu Ye
- Yang Liming
- Zenklusen Jean C.
- Zhang Hailei
- Zhang Jiashan
- Zhang Jiashan (Julia)
- Zhang Wei
- Zhu Jing-chun
- Zmuda Erik
- Zuna Rosemary E.
- Publication venue
- Publication date
- 01/01/2017
- Field of study
SummaryWe performed genomic, epigenomic, transcriptomic, and proteomic characterizations of uterine carcinosarcomas (UCSs). Cohort samples had extensive copy-number alterations and highly recurrent somatic mutations. Frequent mutations were found in TP53, PTEN, PIK3CA, PPP2R1A, FBXW7, and KRAS, similar to endometrioid and serous uterine carcinomas. Transcriptome sequencing identified a strong epithelial-to-mesenchymal transition (EMT) gene signature in a subset of cases that was attributable to epigenetic alterations at microRNA promoters. The range of EMT scores in UCS was the largest among all tumor types studied via The Cancer Genome Atlas. UCSs shared proteomic features with gynecologic carcinomas and sarcomas with intermediate EMT features. Multiple somatic mutations and copy-number alterations in genes that are therapeutic targets were identified
Integrated genomic characterization of pancreatic ductal adenocarcinoma
- Author
- Adsay Volkan
- Aguirre Andrew J.
- Akbani Rehan
- Albert Monique
- Ally Adrian
- Amundadottir Laufey T.
- Auman J. Todd
- Bahary Nathan
- Bailey Peter
- Balasundaram Miruna
- Balu Saianand
- Bardeesy Nabeel
- Bartlett John
- Bathe Oliver
- Baylin Stephen B.
- Becker Karl-Friedrich
- Behera Madhusmita
- Bennett Joseph
- Bergelson Louis
- Beroukhim Rameen
- Berrios Mario
- Biankin Andrew
- Birol Inanc
- Bodenheimer Tom
- Boice Lori
- Bootwalla Moiz S.
- Bowen Jay
- Bowlby Reanne
- Breggia Anne
- Brooks Denise
- Burch Patrick
- Burks Eric
- Cancer Genome Initiative (APGI Australian Pancreatic
- Carlotti Junior Carlos Gilberto
- Carlsen Rebecca
- Chabot John
- Chaffee Kari
- Chang David
- Cherniack Andrew D.
- Chin Lynda
- Chin Lynda
- Cho Juok
- Chu Andy
- Chuah Eric
- Chudamani Sudha
- Cibulskis Carrie
- Clarke Amanda
- Collisson Eric
- Crain Daniel
- Curley Erin
- Defreitas Timothy
- Demchok John A.
- Dhalla Noreen
- Dhir Rajiv
- Dubina Michael
- Eschbacher Jennifer
- Fei Suzanne S.
- Felau Ina
- Ferguson Martin L.
- Frazer Scott
- Frick Jessica
- Furth Emma
- Gabriel Stacey B.
- Gardner Johanna
- Gastier-Foster Julie M.
- Gehlenborg Nils
- Gerken Mark
- Getz Gad
- Gibb Ewan A.
- Gill Anthony
- Gingras Marie-Claude
- Goldenberg Anna
- Grimmond Sean
- Gupta Manaswi
- Han Sung-Sik
- Hayes D. Neil
- Heiman David I.
- Hess Julian
- Hibshoosh Hanina
- Hinoue Toshinori
- Hoadley Katherine A.
- Holbrook Andrea
- Holt Robert A.
- Howard Zaren
- Hoyle Alan P.
- Hruban Ralph H.
- Huang Mei
- Huelsenbeck-Dill Lori
- Hutter Carolyn M.
- Hwang Rosa F.
- Janssen Klaus-Peter
- Jefferys Stuart R.
- Jenkins Roger
- Jennifer Smith
- Johns Amber
- Johns Amber
- Jones Corbin D.
- Jones Steven J.M.
- Judy Miller
- Kamburov Atanas
- Karpov Alexey
- Kasaian Katayoon
- Kemp Rafael
- Kench James
- Kim Hark
- Kim Jaegil
- Kim Jaegil
- Kim Paula
- Kim Seong Hoon
- Kim Yong Hoon
- Klimstra David
- Korkut Anil
- Kucherlapati Melanie
- Kucherlapati Raju
- Kwon Sun Young
- Lai Phillip H.
- Laird Peter W.
- Lander Eric
- Lau Kevin
- Lawrence Michael S.
- Lee Darlene
- Leiserson Mark D.M.
- Leraas Kristen M.
- Leshchiner Ignaty
- Lichtenberg Tara M.
- Lin Pei
- Ling Shiyun
- Liu Jia
- Liu Yuexin
- Livitz Dimitri
- Loher Phillipe
- Lolla Laxmi
- Londin Eric R.
- Lu Yiling
- Lyadov Vladimir
- Ma Yussanne
- Maglinte Dennis T.
- Mahurkar Swapna
- Maithel Shishir
- Mallery David
- Manikhas Georgy
- Marra Marco A.
- Mayo Michael
- McWilliams Robert
- Meier Sam
- Meng Shaowu
- Meyerson Matthew
- Mezlini Aziz M.
- Mieczkowski Piotr A.
- Mills Shaw Kenna R.
- Mills Gordon B.
- Moffitt Richard A.
- Montgomery Eric
- Moore Richard A.
- Morris Scott
- Mose Lisle E.
- Mungall Andrew J.
- Mungall Karen L.
- Murray Bradley A.
- Naresh Rashi
- Noble Michael S.
- Noushmehr Houtan
- Oberg Ann
- Osunkoya Adeboye
- Owonikoko Taofeek
- Paklina Oxana
- Pantazi Angeliki
- Park Peter
- Park Sang-Jae
- Parker Joel S.
- Paul Drwiega
- Paulauskis Joseph
- Penny Robert
- Perou Amy H.
- Perou Charles M.
- Petersen Gloria
- Pihl Todd
- Postier Russell
- Potapova Olga
- Pretti da Cunha Tirapelli Daniela
- Radenbaugh Amie
- Ramalingam Suresh
- Ramirez Nilsa C.
- Raphael Benjamin J.
- Rathmell W. Kimryn
- Reardon Brendan
- Renkel Jeremy
- Rieger-Christ Kimberly
- Rigoutsos Isidore
- Roach Jeffrey
- Robertson A. Gordon
- Roggin Kevin
- Rosenberg Mara
- Sadeghi Sara
- Saksena Gordon
- Saksena Gordon
- Saller Charles
- Sander Chris
- Schein Jacqueline E.
- Schumacher Steven E.
- Sebastião dos Santos Jose
- Sekhon Harman
- Senbabaoglu Yasin
- Sepulveda Antonia
- Setdikova Galiya
- Shabunin Alexey
- Shelton Candace
- Shelton Troy
- Shen Hui
- Sherman Mark
- Sheth Margi
- Shi Yan
- Shih Juliann
- Shroff Rachna T.
- Sica Gabriel
- Sicotte Hugues
- Simons Janae V.
- Singhi Aatur D.
- Sipahimalani Payal
- Skelly Tara
- Slotta-Huspenina Julia
- Smyrk Thomas
- Sofia Heidi J.
- Soloway Matthew G.
- Spellman Paul T.
- Stephen Yeager
- Stewart Chip
- Su Tao
- Sullivan Travis
- Sun Qiang
- Swanson Pat
- Tam Angela
- Tan Donghui
- Tarnuzzer Roy
- Tarvin Katherine
- Tavobilov Michael
- Telonis Aristeidis G.
- Tempero Margaret
- Tepper Joel
- Thiessen Nina
- Thorne Leigh B.
- Tiao Grace
- Triche Timothy J.
- Tse Kane
- Urbanski Stefan
- Van Allen Eliezer
- Van Den Berg David J.
- Veluvolu Umadevi
- Voet Doug
- Voronina Olga
- Wan Yunhu
- Wang Timothy
- Wang Zhining
- Weinstein John N.
- Weisenberger Daniel J.
- Wheeler David A.
- Wilkerson Matthew D.
- Wise Lisa
- Wong Tina
- Wu Ye
- Xi Liu
- Yang Liming
- Yeh Jen Jen
- Yena Peggy
- Zenklusen Jean C.
- Zhang Hailei
- Zhang Jiashan (Julia)
- Zhang Lizhi
- Zhang Wei
- Zmuda Erik
- Zuna Rosemary
- Publication venue
- 'Elsevier BV'
- Publication date
- 01/08/2017
- Field of study
We performed integrated genomic, transcriptomic, and proteomic profiling of 150 pancreatic ductal adenocarcinoma (PDAC) specimens, including samples with characteristic low neoplastic cellularity. Deep whole-exome sequencing revealed recurrent somatic mutations in KRAS, TP53, CDKN2A, SMAD4, RNF43, ARID1A, TGFβR2, GNAS, RREB1, and PBRM1. KRAS wild-type tumors harbored alterations in other oncogenic drivers, including GNAS, BRAF, CTNNB1, and additional RAS pathway genes. A subset of tumors harbored multiple KRAS mutations, with some showing evidence of biallelic mutations. Protein profiling identified a favorable prognosis subset with low epithelial-mesenchymal transition and high MTOR pathway scores. Associations of non-coding RNAs with tumor-specific mRNA subtypes were also identified. Our integrated multi-platform analysis reveals a complex molecular landscape of PDAC and provides a roadmap for precision medicine
Integrative Genomic Analysis of Cholangiocarcinoma Identifies Distinct IDH -Mutant Molecular Profiles
- Author
- Akbani Rehan
- Allotey Loretta K.
- Ally Adrian
- Alvaro Domenico
- Andersen Jesper B.
- Appelbaum Elizabeth L.
- Arora Arshi
- Auman J. Todd
- Auman J. Todd
- Balasundaram Miruna
- Balu Saianand
- Bardeesy Nabeel
- Bathe Oliver F.
- Bathe Oliver F.
- Baylin Stephen B.
- Beroukhim Rameen
- Berrios Mario
- Bodenheimer Tom
- Boice Lori
- Bootwalla Moiz S.
- Borad Mitesh J.
- Bowen Jay
- Bowlby Reanne
- Bragazzi Maria Consiglia
- Brooks Denise
- Cardinale Vincenzo
- Carlsen Rebecca
- Carpino Guido
- Carvalho Andre L.
- Chaiteerakij Roongruedee
- Chandan Vishal C.
- Cherniack Andrew D.
- Chin Lynda
- Cho Juok
- Choe Gina
- Chuah Eric
- Chudamani Sudha
- Cibulskis Carrie
- Cordes Matthew G.
- Covington Kyle R.
- Crain Daniel
- Curley Erin
- De Rose Agostino Maria
- Defreitas Timothy
- Demchok John A.
- Deshpande Vikram
- Dhalla Noreen
- Ding Li
- Evason Kimberley
- Farshidfar Farshad
- Farshidfar Farshad
- Felau Ina
- Ferguson Martin L.
- Foo Wai Chin
- Franchitto Antonio
- Frazer Scott
- Fronick Catrina C.
- Fulton Lucinda A.
- Fulton Robert S.
- Gabriel Stacey B.
- Gardner Johanna
- Gastier-Foster Julie M.
- Gaudio Eugenio
- Gehlenborg Nils
- Genovese Giannicola
- Gerken Mark
- Getz Gad
- Giama Nasra H.
- Gibb Ewan A.
- Gibbs Richard A.
- Gingras Marie-Claude
- Giuliante Felice
- Grazi Gian Luca
- Hayes D. Neil
- Hegde Apurva M.
- Heiman David I.
- Hess Julian M.
- Hinoue Toshinori
- Hoadley Katherine A.
- Holbrook Andrea
- Holt Robert A.
- Hoyle Alan P.
- Huang Mei
- Hutter Carolyn M.
- Jefferys Stuart R.
- Jones Corbin D.
- Jones Steven J.M.
- Kasaian Katayoon
- Kelley Robin K.
- Kim Jaegil
- Kleiner David E.
- Kocher Jean-Pierre A.
- Kwong Lawrence N.
- Lai Phillip H.
- Laird Peter W.
- Lawrence Michael S.
- Leraas Kristen M.
- Lichtenberg Tara M.
- Lin Pei
- Liu Jia
- Liu Wenbin
- Lolla Laxmi
- Lu Yiling
- Ma Yussanne
- Mallery David
- Mardis Elaine R.
- Marra Marco A.
- Matsushita Marcus M.
- Mayo Michael
- McLellan Michael D.
- McRee Autumn J.
- Meier Sam
- Meng Shaowu
- Meyerson Matthew
- Mieczkowski Piotr A.
- Miller Christopher A.
- Mills Gordon B.
- Moore Richard A.
- Morris Scott
- Mose Lisle E.
- Moser Catherine D.
- Mounajjed Taofic
- Mungall Andrew J.
- Mungall Karen
- Murray Bradley A.
- Naresh Rashi
- Newton Yulia
- Noble Michael S.
- Ojesina Akinyemi I.
- O’Brien Daniel R.
- Parker Joel S.
- Patel Tushar C.
- Paulauskis Joseph
- Pedamallu Chandra Sekhar
- Penny Robert
- Perou Amy H.
- Perou Charles M.
- Pihl Todd
- Radenbaugh Amie J.
- Ramirez Nilsa C.
- Rathmell W. Kimryn
- Reznik Ed
- Rhie Suhn K.
- Roach Jeffrey
- Roberts Lewis R.
- Robertson A. Gordon
- Roszik Jason
- Sadeghi Sara
- Saksena Gordon
- Sander Chris
- Schein Jacqueline E.
- Schmidt Heather K.
- Schumacher Steven E.
- Shelton Candace
- Shelton Troy
- Shen Ronglai
- Sheth Margi
- Shi Yan
- Shih Juliann
- Shinbrot Eve
- Shroff Rachna
- Simons Janae V.
- Sipahimalani Payal
- Skelly Tara
- Sofia Heidi J.
- Soloway Matthew G.
- Stoppler Hubert
- Stransky Nicolas
- Stuart Josh
- Sun Qiang
- Tam Angela
- Tan Donghui
- Tarnuzzer Roy
- Thiessen Nina
- Thorne Leigh B.
- Torbenson Michael S.
- Van Den Berg David J.
- Veluvolu Umadevi
- Verhaak Roel G.W.
- Voet Doug
- Wan Yunhu
- Wang Zhining
- Weinstein John N.
- Weisenberger Daniel J.
- Wheeler David A.
- Wilson Richard K.
- Wise Lisa
- Wong Tina
- Wu Chia-Chin
- Wu Ye
- Xi Liu
- Yang Ju Dong
- Yang Liming
- Zenklusen Jean C.
- Zhang Hailei
- Zhang Jiashan (Julia)
- Zheng Siyuan
- Zheng Siyuan
- Zhu Andrew X.
- Zmuda Erik
- Publication venue
- Publication date
- 01/01/2017
- Field of study
Cholangiocarcinoma (CCA) is an aggressive malignancy of the bile ducts, with poor prognosis and limited treatment options. Here, we describe the integrated analysis of somatic mutations, RNA expression, copy number, and DNA methylation by The Cancer Genome Atlas of a set of predominantly intrahepatic CCA cases and propose a molecular classification scheme. We identified an IDH mutant-enriched subtype with distinct molecular features including low expression of chromatin modifiers, elevated expression of mitochondrial genes, and increased mitochondrial DNA copy number. Leveraging the multi-platform data, we observed that ARID1A exhibited DNA hypermethylation and decreased expression in the IDH mutant subtype. More broadly, we found that IDH mutations are associated with an expanded histological spectrum of liver tumors with molecular features that stratify with CCA. Our studies reveal insights into the molecular pathogenesis and heterogeneity of cholangiocarcinoma and provide classification information of potential therapeutic significance
Comprehensive Molecular Characterization of Pheochromocytoma and Paraganglioma
- Author
- Akbani Rehan
- Ally Adrian
- Amar Laurence
- Amelio Antonio L.
- Arachchi Harindra
- Asa Sylvia L.
- Auchus Richard J.
- Auman J. Todd
- Baertsch Robert
- Balasundaram Miruna
- Balu Saianand
- Bartsch Detlef K.
- Baudin Eric
- Bauer Thomas
- Beaver Allison
- Benz Christopher
- Beroukhim Rameen
- Beuschlein Felix
- Bodenheimer Tom
- Boice Lori
- Bowen Jay
- Bowlby Reanne
- Brooks Denise
- Carlsen Rebecca
- Carter Suzie
- Cassol Clarissa A.
- Cherniack Andrew D.
- Chin Lynda
- Cho Juok
- Chuah Eric
- Chudamani Sudha
- Cope Leslie
- Crain Daniel
- Curley Erin
- Danilova Ludmila
- de Cubas Aguirre A.
- de Krijger Ronald R.
- Demchok John A.
- Deutschbein Timo
- Dhalla Noreen
- Dimmock David
- Dinjens Winand N.M.
- Else Tobias
- Eng Charis
- Eschbacher Jennifer
- Fassnacht Martin
- Felau Ina
- Feldman Michael
- Ferguson Martin L.
- Fiddes Ian
- Fishbein Lauren
- Frazer Scott
- Gabriel Stacey B.
- Gardner Johanna
- Gastier-Foster Julie M.
- Gehlenborg Nils
- Gerken Mark
- Getz Gad
- Geurts Jennifer
- Ghayee Hans K.
- Gimenez-Roqueplo Anne-Paule
- Giordano Thomas J.
- Goldman Mary
- Graim Kiley
- Gupta Manaswi
- Haan David
- Hahner Stefanie
- Hantel Constanze
- Haussler David
- Hayes D. Neil
- Heiman David I.
- Hoadley Katherine A.
- Holt Robert A.
- Hoyle Alan P.
- Huang Mei
- Hunt Bryan
- Hutter Carolyn M.
- Jefferys Stuart R.
- Johnson Amy R.
- Jones Corbin D.
- Jones Steven J.M.
- Kasaian Katayoon
- Kebebew Electron
- Kim Jaegil
- Kimes Patrick
- Knijnenburg Theo
- Korpershoek Esther
- Lander Eric
- Lawrence Michael S.
- Lechan Ronald
- Lee Darlene
- Leraas Kristen M.
- Lerario Antonio
- Leshchiner Ignaty
- Lichtenberg Tara M.
- Lin Pei
- Ling Shiyun
- Liu Jia
- LiVolsi Virginia A.
- Lolla Laxmi
- Lotan Yair
- Lu Yiling
- Ma Yussanne
- Maison Nicole
- Makowski Liza
- Mallery David
- Mannelli Massimo
- Marquard Jessica
- Marra Marco A.
- Matthew Thomas
- Mayo Michael
- Meng Shaowu
- Merino Maria J.
- Mete Ozgur
- Meyerson Matthew
- Mieczkowski Piotr A.
- Mills Gordon B.
- Moore Richard A.
- Morozova Olena
- Morris Scott
- Mose Lisle E.
- Mungall Andrew J.
- Murray Bradley A.
- Méatchi Tchao
- Naresh Rashi
- Nathanson Katherine L.
- Newton Yulia
- Ng Sam
- Ni Ying
- Noble Michael S.
- Nwariaku Fiemu
- Pacak Karel
- Parker Joel S.
- Paul Evan
- Penny Robert
- Perou Amy H.
- Perou Charles M.
- Pihl Todd
- Powers James
- Rabaglia Jennifer
- Radenbaugh Amie
- Ramirez Nilsa C.
- Rao Arjun
- Rathmell W. Kimryn
- Riester Anna
- Roach Jeffrey
- Robertson A. Gordon
- Sadeghi Sara
- Saksena Gordon
- Salama Sofie
- Saller Charles
- Sandusky George
- Sbiera Silviu
- Schein Jacqueline E.
- Schumacher Steven E.
- Shelton Candace
- Shelton Troy
- Sheth Margi
- Shi Yan
- Shih Juliann
- Shmulevich Ilya
- Simons Janae V.
- Sipahimalani Payal
- Skelly Tara
- Sofia Heidi J.
- Sokolov Artem
- Soloway Matthew G.
- Sougnez Carrie
- Stuart Josh
- Sun Charlie
- Swatloski Teresa
- Tam Angela
- Tan Donghui
- Tarnuzzer Roy
- Tarvin Katherine
- Thiessen Nina
- Thorne Leigh B.
- Timmers Henri J.
- Tischler Arthur S.
- Tse Kane
- Uzunangelov Vlado
- van Berkel Anouk
- Veluvolu Umadevi
- Vicha Ales
- Voet Doug
- Waldmann Jens
- Walter Vonn
- Wan Yunhu
- Wang Tracy S.
- Wang Zhining
- Weaver Joellen
- Weinstein John N.
- Weismann Dirk
- Wenz Brandon
- Wilkerson Matthew D.
- Wise Lisa
- Wong Christopher
- Wong Tina
- Wu Ye
- Yang Liming
- Zelinka Tomas
- Zenklusen Jean C.
- Zhang Jiashan (Julia)
- Zhang Wei
- Zhu Jingchun
- Zinzindohoué Franck
- Zmuda Erik
- Publication venue
- Publication date
- 01/01/2017
- Field of study
SummaryWe report a comprehensive molecular characterization of pheochromocytomas and paragangliomas (PCCs/PGLs), a rare tumor type. Multi-platform integration revealed that PCCs/PGLs are driven by diverse alterations affecting multiple genes and pathways. Pathogenic germline mutations occurred in eight PCC/PGL susceptibility genes. We identified CSDE1 as a somatically mutated driver gene, complementing four known drivers (HRAS, RET, EPAS1, and NF1). We also discovered fusion genes in PCCs/PGLs, involving MAML3, BRAF, NGFR, and NF1. Integrated analysis classified PCCs/PGLs into four molecularly defined groups: a kinase signaling subtype, a pseudohypoxia subtype, a Wnt-altered subtype, driven by MAML3 and CSDE1, and a cortical admixture subtype. Correlates of metastatic PCCs/PGLs included the MAML3 fusion gene. This integrated molecular characterization provides a comprehensive foundation for developing PCC/PGL precision medicine
Comprehensive and Integrated Genomic Characterization of Adult Soft Tissue Sarcomas
- Author
- Abeshouse Adam
- Adebamowo Clement
- Adebamowo Sally N.
- Akbani Rehan
- Akeredolu Teniola
- Ally Adrian
- Anderson Matthew L.
- Anur Pavana
- Appelbaum Elizabeth L.
- Armenia Joshua
- Auman J. Todd
- Bailey Matthew H.
- Baker Laurence
- Balasundaram Miruna
- Balu Saianand
- Barthel Floris P.
- Bartlett John
- Baylin Stephen B.
- Behera Madhusmita
- Belyaev Dmitry
- Bennett Joesph
- Benz Christopher
- Beroukhim Rameen
- Birrer Michael
- Bocklage Thèrése
- Bodenheimer Tom
- Boice Lori
- Bootwalla Moiz S.
- Bowen Jay
- Bowlby Reanne
- Boyd Jeff
- Brohl Andrew S.
- Brooks Denise
- Byers Lauren
- Carlsen Rebecca
- Castro Patricia
- Chen Hsiao-Wei
- Cherniack Andrew D.
- Chibon Fréderic
- Chin Lynda
- Cho Juok
- Chuah Eric
- Chudamani Sudha
- Cibulskis Carrie
- Cooper Lee A.D.
- Cope Leslie
- Cordes Matthew G.
- Crain Daniel
- Curley Erin
- Danilova Ludmila
- Dao Fanny
- Davis Ian J.
- Davis Lara E.
- Defreitas Timothy
- Delman Keith
- Demchok John A.
- Demetri George D.
- Demicco Elizabeth G.
- Dhalla Noreen
- Diao Lixia
- Ding Li
- DiSaia Phil
- Dottino Peter
- Doyle Leona A.
- Drill Esther
- Dubina Michael
- Eschbacher Jennifer
- Fedosenko Konstantin
- Felau Ina
- Ferguson Martin L.
- Frazer Scott
- Fronick Catrina C.
- Fulidou Victoria
- Fulton Lucinda A.
- Fulton Robert S.
- Gabriel Stacey B.
- Gao Jianjiong
- Gao Qingsong
- Gardner Johanna
- Gastier-Foster Julie M.
- Gay Carl M.
- Gehlenborg Nils
- Gerken Mark
- Getz Gad
- Godwin Andrew K.
- Godwin Eryn M.
- Gordienko Elena
- Grilley-Olson Juneko E.
- Gutman David A.
- Gutmann David H.
- Hayes D. Neil
- Hegde Apurva M.
- Heiman David I.
- Heins Zachary
- Helsel Carmen
- Hepperla Austin J.
- Higgins Kelly
- Hoadley Katherine A.
- Hobensack Shital
- Holt Robert A.
- Hoon Dave B.
- Hornick Jason L.
- Hoyle Alan P.
- Hu Xin
- Huang Mei
- Hutter Carolyn M.
- Iacocca Mary
- Ingram Davis R.
- Ittmann Michael
- Iype Lisa
- Jefferys Stuart R.
- Jones Corbin D.
- Jones Kevin B.
- Jones Steven J.M.
- Kalir Tamara
- Karlan Beth Y.
- Karseladze Apollon
- Kasaian Katayoon
- Kim Jaegil
- Kundra Ritika
- Kuo Hanluen
- Ladanyi Marc
- Lai Phillip H.
- Laird Peter W.
- Larsson Erik
- Lawrence Michael S.
- Lazar Alexander J.
- Lee Darlene
- Lee Sanghoon
- Lehmann Kjong-Van
- Leraas Kristen M.
- Lester Jenny
- Levine Douglas A.
- Li Irene
- Lichtenberg Tara M.
- Lin Pei
- Liu Eric Minwei
- Liu Jia
- Liu Wenbin
- Lolla Laxmi
- Lu Yiling
- Ma Yussanne
- Madan Rashna
- Maglinte Dennis T.
- Magliocco Anthony
- Maki Robert G.
- Mallery David
- Manikhas Georgy
- Mardis Elaine R.
- Mariamidze Armaz
- Marra Marco A.
- Martignetti John A.
- Martinez Cathleen
- Mayo Michael
- McLellan Michael D.
- Meier Sam
- Meng Shaowu
- Meyerson Matthew
- Mieczkowski Piotr A.
- Miller Christopher A.
- Mills Gordon B.
- Moore Richard A.
- Morris Scott
- Mose Lisle E.
- Mozgovoy Evgeny
- Mungall Andrew J.
- Mungall Karen
- Nalisnik Michael
- Naresh Rashi
- Newton Yulia
- Noble Michael S.
- Novak Janet E.
- Ochoa Angelica
- Olvera Narciso
- Owonikoko Taofeek K.
- Paklina Oxana
- Parfitt Jeremy
- Parker Joel S.
- Pastore Alessandro
- Paulauskis Joseph
- Penny Robert
- Pereira Elena
- Perou Amy H.
- Perou Charles M.
- Pihl Todd
- Pollock Raphael E.
- Potapova Olga
- Radenbaugh Amie J.
- Ramalingam Suresh S.
- Ramirez Nilsa C.
- Rathmell W. Kimryn
- Raut Chandrajit P.
- Reilly Colleen
- Reynolds Sheila M.
- Riedel Richard F.
- Roach Jeffrey
- Robertson A. Gordon
- Roszik Jason
- Rubin Brian P.
- Sadeghi Sara
- Saksena Gordon
- Salner Andrew
- Sanchez-Vega Francisco
- Sander Chris
- Schein Jacqueline E.
- Schmidt Heather K.
- Schultz Nikolaus
- Schumacher Steven E.
- Sekhon Harman
- Senbabaoglu Yasin
- Setdikova Galiya
- Shelton Candace
- Shelton Troy
- Shen Ronglai
- Shi Yan
- Shih Juliann
- Shmulevich Ilya
- Sica Gabriel L.
- Simons Janae V.
- Singer Samuel
- Sipahimalani Payal
- Skelly Tara
- Socci Nicholas
- Sofia Heidi J.
- Soloway Matthew G.
- Spellman Paul
- Sun Qiang
- Swanson Patricia
- Tam Angela
- Tan Donghui
- Tarnuzzer Roy
- Thiessen Nina
- Thompson Eric
- Thorne Leigh B.
- Tong Pan
- Torres Keila E.
- van de Rijn Matt
- Van Den Berg David J.
- Van Tine Brian A.
- Veluvolu Umadevi
- Verhaak Roel
- Voet Doug
- Voronina Olga
- Wan Yunhu
- Wang Jing
- Wang Zhining
- Weinstein John N.
- Weisenberger Daniel J.
- Wilkerson Matthew D.
- Wilson Richard K.
- Wise Lisa
- Wong Tina
- Wong Winghing
- Wrangle John
- Wu Ye
- Wyczalkowski Matthew
- Yang Liming
- Yau Christina
- Yellapantula Venkata
- Zenklusen Jean C.
- Zhang Hailei
- Zhang Hongxin
- Zhang Jiashan (Julia)
- Zmuda Erik
- Publication venue
- Publication date
- 01/01/2017
- Field of study
Sarcomas are a broad family of mesenchymal malignancies exhibiting remarkable histologic diversity. We describe the multi-platform molecular landscape of 206 adult soft tissue sarcomas representing 6 major types. Along with novel insights into the biology of individual sarcoma types, we report three overarching findings: (1) unlike most epithelial malignancies, these sarcomas (excepting synovial sarcoma) are characterized predominantly by copy-number changes, with low mutational loads and only a few genes (, , ) highly recurrently mutated across sarcoma types; (2) within sarcoma types, genomic and regulomic diversity of driver pathways defines molecular subtypes associated with patient outcome; and (3) the immune microenvironment, inferred from DNA methylation and mRNA profiles, associates with outcome and may inform clinical trials of immune checkpoint inhibitors. Overall, this large-scale analysis reveals previously unappreciated sarcoma-type-specific changes in copy number, methylation, RNA, and protein, providing insights into refining sarcoma therapy and relationships to other cancer types
Comprehensive Molecular Portraits of Invasive Lobular Breast Cancer
- Author
- Akbani Rehan
- Allison Kimberly H.
- Auman J. Todd
- Balasundaram Miruna
- Balu Saianand
- Barr Thomas
- Beck Andrew
- Beck Andrew H.
- Benz Christopher
- Benz Christopher
- Benz Stephen
- Beroukhim Rameen
- Berrios Mario
- Bodenheimer Tom
- Boice Lori
- Bootwalla Moiz S.
- Bowen Jay
- Bowlby Reanne
- Bowlby Reanne
- Brooks Denise
- Chen Yunn-Yi
- Cherniack Andrew D.
- Cherniack Andrew D.
- Chin Lynda
- Cho Juok
- Chudamani Sudha
- Ciriello Giovanni
- Ciriello Giovanni
- Collins Laura C.
- Davidsen Tanja
- Demchok John A.
- Dennison Jennifer B.
- Ding Li
- Factor Rachel E.
- Felau Ina
- Ferguson Martin L.
- Fieldhouse Robert
- Frazer Scott
- Gabriel Stacey B.
- Gao JianJiong
- Gastier-Foster Julie M.
- Gatza Michael L.
- Gatza Michael L.
- Gehlenborg Nils
- Gerken Mark
- Getz Gad
- Gibson William J.
- Hayat Sikander
- Hayes D. Neil
- Heiman David I.
- Hoadley Katherine A.
- Hoadley Katherine A.
- Holbrook Andrea
- Holt Robert A.
- Hoyle Alan P.
- Hu Hai
- Huang Mei
- Hutter Carolyn M.
- Hwang E. Shelley
- Jefferys Stuart R.
- Jensen Kristin
- Johnson Nicole B.
- Jones Steven J.M.
- Ju Zhenlin
- Kandoth Cyriac
- Kim Jaegil
- King Tari A.
- Lai Phillip H.
- Laird Peter W.
- Laird Peter W.
- Lawrence Michael S.
- Leraas Kristen M.
- Lester Susan C.
- Lichtenberg Tara M.
- Lin Pei
- Ling Shiyun
- Liu Jia
- Liu Wenbin
- Lolla Laxmi
- Lu Yiling
- Ma Yussanne
- Maglinte Dennis T.
- Mardis Elaine
- Marks Jeffrey
- Marra Marco A.
- McAllister Cynthia
- McLellan Michael
- McLellan Michael
- Meng Shaowu
- Meyerson Matthew
- Mills Gordon B.
- Mills Gordon B.
- Moore Richard A.
- Mose Lisle E.
- Mungall Andrew J.
- Murray Bradley A.
- Naresh Rashi
- Noble Michael S.
- Oesterreich Steffi
- Oesterreich Steffi
- Olopade Olufunmilayo
- Parker Joel S.
- Pastore Alessandro
- Perou Charles M.
- Perou Charles M.
- Pihl Todd
- Ramirez Nilsa C.
- Rathmell W. Kimryn
- Rhie Suhn K.
- Rhie Suhn K.
- Roach Jeffrey
- Robertson A. Gordon
- Robertson Gordon
- Saksena Gordon
- Saksena Gordon
- Sander Chris
- Sander Chris
- Schein Jacqueline E.
- Schultz Nikolaus
- Schumacher Steven E.
- Shaw Kenna R. Mills
- Shelley Carl Simon
- Shen Hui
- Shen Hui
- Sheth Margi
- Shi Yan
- Shih Juliann
- Shriver Craig
- Simons Janae V.
- Sofia Heidi J.
- Soloway Matthew G.
- Sougnez Carrie
- Sun Charlie
- Tarnuzzer Roy
- Tiezzi Daniel G.
- Tse Gary M.K.
- Van Den Berg David J.
- Voet Doug
- Wan Yunhu
- Wang Zhining
- Weinstein John N.
- Weisenberger Daniel J.
- Wilkerson Matthew D.
- Wilkerson Matthew D.
- Wilson Richard
- Wise Lisa
- Wiznerowicz Maciej
- Wu Junyuan
- Wu Ye
- Yang Liming
- Yau Christina
- Yau Christina
- Zack Travis I.
- Zenklusen Jean C.
- Zhang Hailei
- Zhang Hailei
- Zhang Jiashan
- Zmuda Erik
- Publication venue
- Publication date
- 01/01/2015
- Field of study
Invasive lobular carcinoma (ILC) is the second most prevalent histologic subtype of invasive breast cancer. Here, we comprehensively profiled 817 breast tumors, including 127 ILC, 490 ductal (IDC), and 88 mixed IDC/ILC. Besides E-cadherin loss, the best known ILC genetic hallmark, we identified mutations targeting PTEN, TBX3 and FOXA1 as ILC enriched features. PTEN loss associated with increased AKT phosphorylation, which was highest in ILC among all breast cancer subtypes. Spatially clustered FOXA1 mutations correlated with increased FOXA1 expression and activity. Conversely, GATA3 mutations and high expression characterized Luminal A IDC, suggesting differential modulation of ER activity in ILC and IDC. Proliferation and immune-related signatures determined three ILC transcriptional subtypes associated with survival differences. Mixed IDC/ILC cases were molecularly classified as ILC-like and IDC-like revealing no true hybrid features. This multidimensional molecular atlas sheds new light on the genetic bases of ILC and provides potential clinical options
The Somatic Genomic Landscape of Chromophobe Renal Cell Carcinoma
- Author
- Ahn Jaeil
- Akbani Rehan
- Aldape Kenneth D.
- Ally Adrian
- Atkins Michael B.
- Auman J. Todd
- Ayala Brenda
- Baboud Julien
- Balasundaram Miruna
- Balu Saianand
- Baylin Stephen B.
- Benz Christopher C.
- Beroukhim Rameen
- Bhanot Gyan
- Biehl Michael
- Birol Inanc
- Black Aaron D.
- Bodenheimer Tom
- Boice Lori
- Bootwalla Moiz S.
- Bowen Jay
- Bristow Christopher A.
- Brooks Denise
- Buda Elizabeth
- Buhay Christian
- Butterfield Yaron S.N.
- Carter Scott L.
- Chao Hsu
- Chen Fengju
- Cherniack Andrew D.
- Cheville John
- Chin Lynda
- Cho Juok
- Choi Yoon La
- Choueiri Toni K.
- Chu Andy
- Chuah Eric
- Chudamani Sudha
- Clarke Amanda
- Coarfa Cristian
- Creighton Chad J.
- Czerniak Bogdan A.
- Dahdouli Mike
- Davidsen Tanja
- Davis Caleb F.
- Demchok John A.
- Dhalla Noreen
- Di-Cara Daniel
- Doddapaneni Harsha
- Donehower Lawrence A.
- Downs Brittany
- Drummond Jennifer
- Eley Greg
- English Adam
- Fahey Catherine C.
- Fan Yu
- Fargo David
- Felau Ina
- Frazer Scott
- Gabriel Stacey B.
- Gastier-Foster Julie M.
- Gehlenborg Nils
- Getz Gad
- Gibbs Richard A.
- Gordenin Dmitry A.
- Guin Ranabir
- Gunaratne Preethi H.
- Guyer Mark S.
- Hacker Kathryn E.
- Hadjipanayis Angela
- Hakimi A. Ari
- Hale Walker
- Hall Tracy M.
- Hanf Benjamin
- Haussler David
- Hawes Alicia
- Hayes D. Neil
- Heiman David I.
- Henske Elizabeth P.
- Hoadley Katherine A.
- Holt Robert A.
- Hoyle Alan P.
- Hsieh James J.
- Huang Mei
- Hutter Carolyn M.
- Jefferys Stuart R.
- Jensen Mark A.
- Jones Corbin D.
- Jones Steven J.M.
- Kaelin William G.
- Kaipparettu Benny A.
- Kakkar Nipun
- Kalra Divya
- Kang Hyojin
- Kasaian Katayoon
- Kim Jaegil
- Kim Sang Cheol
- Klimczak Leszek J.
- Kovar Christie
- Kucherlapati Raju
- Kwiatkowski David J.
- Lai Phillip H.
- Laird Peter W.
- Lang Martin
- Lawrence Michael S.
- Lee Darlene
- Lee Eunjung
- Lee June Koo
- Lee Junehawk
- Lee Semin
- Leraas Kristen M.
- Lewis Lora
- Li Haiyan I.
- Lichtenberg Tara M.
- Lim Emilia
- Lin Pei
- Linehan W. Marston
- Liu Jia
- Liu Yingchun
- Luquette Lovelace J.
- Ma Singer
- Ma Yussanne
- Marra Marco A.
- Mayo Michael
- Meng Qingchang
- Meng Shaowu
- Merino Maria
- Meyerson Matthew
- Mieczkowski Piotr A.
- Moore Richard A.
- Morgan Margaret
- Morton Donna
- Mose Lisle E.
- Mungall Andrew J.
- Murray Bradley A.
- Muzny Donna
- Noble Michael S.
- Ozenberger Bradley A.
- Pantazi Angeliki
- Parfenov Michael
- Park Peter J.
- Park Woong Yang
- Parker Joel S.
- Perou Charles M.
- Peterson James
- Pihl Todd
- Protopopov Alexei
- Radenbaugh Amie
- Ramirez Nilsa C.
- Rathmell W. Kimryn
- Reid Jeffrey G.
- Reuter Victor
- Ricketts Christopher J.
- Roach Jeffrey
- Roberts Steven A.
- Robertson A. Gordon
- Saksena Gordon
- Santoso Netty
- Schein Jacqueline E.
- Schmidt Laura S.
- Schumacher Steven E.
- Seidman Jonathan
- Seiler Michael
- Seth Sahil
- Shaw Kenna R.Mills
- Shen Hui
- Sheth Margi
- Shuch Brian
- Signoretti Sabina
- Simons Janae V.
- Sipahimalani Payal
- Smith Angela B.
- Sofia Heidi J.
- Soloway Mathew G.
- Song Xingzhi
- Sougnez Carrie
- Spellman Paul T.
- Stojanov Petar
- Stuart Josh M.
- Tabak Barbara
- Tam Angela
- Tamboli Pheroze
- Tan Donghui
- Tarnuzzer Roy W.
- Thiessen Nina
- Thompson R. Houston
- Thorne Leigh
- Tickoo Satish K.
- Triche Timothy
- Van Den Berg David J.
- Velaga Sudhakar
- Veluvolu Umadevi
- Vocke Cathy
- Voet Doug
- Walker Kimberly
- Wallen Eric M.
- Walton Jessica
- Wan Yunhu
- Wang Min
- Wang Qiaoyan
- Wang Wenyi
- Wang Zhining
- Waring Scot
- Weinstein John N.
- Weisenberger Daniel J.
- Wheeler David A.
- Wilkerson Matthew D.
- Wise Lisa
- Wong Tina
- Wood Christopher G.
- Worrell Robert
- Wu Junyuan
- Wu Ye
- Xi Liu
- Xu Andrew W.
- Yang Liming
- Yang Lixing
- Zack Travis I.
- Zenklusen Jean Claude
- Zhang Hailei
- Zhang Jianhua
- Zhang Jiashan
- Zhul Jingchun
- Zmuda Erik
- Zou Lihua
- Publication venue
- Publication date
- 01/01/2014
- Field of study
We describe the landscape of somatic genomic alterations of 66 chromophobe renal cell carcinomas (ChRCCs) based on multidimensional and comprehensive characterization, including mitochondrial DNA (mtDNA) and whole genome sequencing. The result is consistent that ChRCC originates from the distal nephron compared to other kidney cancers with more proximal origins. Combined mtDNA and gene expression analysis implicates changes in mitochondrial function as a component of the disease biology, while suggesting alternative roles for mtDNA mutations in cancers relying on oxidative phosphorylation. Genomic rearrangements lead to recurrent structural breakpoints within TERT promoter region, which correlates with highly elevated TERT expression and manifestation of kataegis, representing a mechanism of TERT up-regulation in cancer distinct from previously-observed amplifications and point mutations
Retrospective evaluation of whole exome and genome mutation calls in 746 cancer samples
- Author
- A Gordon Robertson
- Abdullah Kahraman
- Abel Gonzalez-Perez
- Adam A Margolin
- Adam Abeshouse
- Adam Grundhoff
- Adam J Struck
- Adam J Struck
- Adam J Wright
- Adam Lambert
- Adam P Butler
- Adam P Butler
- Adel El-Naggar
- Adnan M Nagrial
- Adrian Ally
- Adrian Baez-Ortega
- Adrian Thorogood
- Adriana Salcedo
- Adrienne M Flanagan
- Ake Borg
- Akihiro Fujimoto
- Akihiro Suzuki
- Akinyemi I Ojesina
- Alain Viari
- Alan J Robertson
- Alan P Hoyle
- Alan Thompson
- Alasdair Stenhouse
- Alastair M Thompson
- Aldo Scarpa
- Alessandro Pastore
- Alex Buchanan
- Alex Buchanan
- Alexander Claviez
- Alexander J Lazar
- Alexander Martinez-Fundichely
- Alfonso Muñoz
- Alfonso Valencia
- Aliaksei Z Holik
- Alice Meng
- Alicia L Bruzos
- Allison Creason
- Allison P Heath
- Alvin Wei Tian Ng
- Alvis Brazma
- Amaro Taylor-Weiner
- Amber L Johns
- Amie Radenbaugh
- Amit G Deshwar
- Ana Dueso-Barroso
- Ana Mijalkovic Mijalkovic-Lazic
- Ana Milovanovic
- Ana Milovanovic
- Andre Kahles
- Andrea Haake
- Andrea Holbrook
- Andrea L Richardson
- Andrea Mafficini
- Andrea Ruzzenente
- Andreas Behren
- Andreas Rosenwald
- Andreia V Pinho
- Andrew Berchuck
- Andrew D Cherniack
- Andrew J Dunford
- Andrew J Mungall
- Andrew J Spillane
- Andrew Menzies
- Andrew Menzies
- Andrew P Barbour
- Andrew Tutt
- Andrew V Biankin
- Andrey Korshunov
- Andrés Lanzós
- Andy Cafferkey
- Andy G Lynch
- Angela Chou
- Angela N Brooks
- Angela Tam
- Angelica Ochoa
- Angelika N Christ
- Angelo P Dei Tos
- Anieta M Sieuwerts
- Anil K Sood
- Anita Langerød
- Anja Füllgrabe
- Anke K Bergmann
- Ann-Marie Patch
- Anna deFazio
- Anna Ehinger
- Anna Fitzgerald
- Anne Hamilton
- Anne Vincent-Salomon
- Anne Y Warren
- Anne-Lise Børresen-Dale
- Annegien Broeks
- Anthony DiBiase
- Anthony J Gill
- Anthony Ng
- Anthony R Green
- Antonia L Pritchard
- Antonio Pea
- Antonios Koures
- Aparna Prasad
- Apurva M Hegde
- Aquila Fatima
- Arcadi Navarro
- Arie B Brinkman
- Arif O Harmanci
- Arindam Maitra
- Armando Lopez-Guillermo
- Arndt Borkhardt
- Arnoud Boot
- Asger Hobolth
- Ashley Williams
- Ashton A Connor
- Atul J Butte
- Aurélien Chateigner
- Austin J Hepperla
- Axel Aretz
- Aya Sasaki-Oku
- Ayellet V Segre
- B F Francis Ouellette
- Bailey Matthew H
- Barbara Hutter
- Barbara Hutter
- Barbara Kremeyer
- Bartha M Knoppers
- Beifang Niu
- Beifang Niu
- Beifang Niu
- Benedikt Brors
- Benita Kiat Tee Tan
- Benjamin J Raphael
- Benjamin P Berman
- Benjamin Raeder
- Bernardo Rodriguez-Martin
- Bernhard Radlwimmer
- Bernice H Wong
- Beth Karlan
- Bin Tean Teh
- Bin Zhu
- Birgit Burkhardt
- Bishoy M Faltas
- Bodil Bjerkehagen
- Bogdan Czerniak
- Boris Winterhoff
- Borislav C Rusev
- Bradly G Wouters
- Brandi N Davis-Dusenbery
- Brian Craft
- Brian D O'Connor
- Brian Patrick O'Neill
- Brice Aminou
- Calvin Wing Yiu Chan
- Cameron M Soulette
- Carl Herrmann
- Carl Morrison
- Carlo Gambacorti-Passerini
- Carlos Caldas
- Carlos D Bustamante
- Carlos López-OtÃn
- Carlota Rubio-Perez
- Carmen Gomez
- Carolien H M van Deurzen
- Carolyn M Hutter
- Carolyn M Hutter
- Carrie Cibulskis
- Caterina Vicentini
- Catherine A Shang
- Catherine D Moser
- Catherine J Kennedy
- Catrina C Fronick
- Chad J Creighton
- Chandra Sekhar Pedamallu
- Chang Li
- Charles David Imbusch
- Charles M Perou
- Charles Saller
- Charles Short
- Charlie E Massie
- Chawalit Pairojkul
- Chen Hong
- Chen Ye
- Cheng-Zhong Zhang
- Chin-Lee Wu
- Chip Stewart
- Chip Stewart
- Chip Stewart
- Choon Kiat Ong
- Chris Lawerenz
- Chris Mitchell
- Chris Sander
- Christian von Mering
- Christiane Buchholz
- Christina K Yung
- Christina K Yung
- Christina Yau
- Christine A Iacobuzio-Donahue
- Christine Chomienne
- Christine Desmedt
- Christine P'ng
- Christof von Kalle
- Christoph Borst
- Christoph Plass
- Christopher A Miller
- Christopher Benz
- Christopher J Scarlett
- Christopher J Yoon
- Christopher K Wong
- Christopher M Lalansingh
- Christopher M Lalansingh
- Christopher Ogden
- Christopher S Foster
- Christopher Umbricht
- Christopher W Toon
- Christos Sotiriou
- Cindy Bell
- Cinzia Cantù
- Ciyue Shen
- Claes Wadelius
- Clare Verrill
- Clarissa Gerhauser
- Claudia Calabrese
- Claudio Bassi
- Claudio Luchini
- Claudiu Farcas
- Clemency Jolly
- Colin A Purdie
- Colin A Semple
- Colin C Collins
- Colin S Cooper
- Conrad R Leonard
- Constance H Li
- Corbin D Jones
- Craig Shriver
- Cristina López
- Cyriac Kandoth
- Cyril Fisher
- D Neil Hayes
- Dai-Ying Wu
- Daiming Fan
- Daisuke Komura
- Dale W Garsed
- Daniel A Leongamornlert
- Daniel Baumhoer
- Daniel Hübschmann
- Daniel J Turner
- Daniel J Weisenberger
- Daniel M Berney
- Daniel Rosebrock
- Daniel S Brewer
- Daniela S Gerhard
- Danielle Pasternack
- Darell Bigner
- Dariush Etemadmoghadam
- Darlene Lee
- Darrin F Taylor
- Dave Larson
- David A Wheeler
- David A Wheeler
- David C Wedge
- David Craft
- David D L Bowtell
- David E Neal
- David Haan
- David Haussler
- David Haussler
- David Hedley
- David Huntsman
- David I Heiman
- David J Adams
- David J Van Den Berg
- David K Chang
- David K Miller
- David Khoo
- David Mutch
- David N Louis
- David Nicol
- David Ocana
- David R Jones
- David R Jones
- David Scott
- David T Bowen
- David T W Jones
- David Tamborero
- David Torrents
- David Torrents
- David Townend
- David Vicente
- Davide Antonello
- Declan Cahill
- Denis Larsimont
- Denis Yuen
- Denise Brooks
- Deniz DemircioÄŸlu
- Dennis C Sgroi
- Dennis Karsch
- Dennis T Maglinte
- Dennis Wigle
- Derek W Wright
- Dianne E Chadwick
- Dido Lenze
- Dieter Kube
- Dieter Weichenhan
- Dilip D Giri
- Dimitri Livitz
- Dimitri Livitz
- Dimple Chakravarty
- Ding
- Dirk Schadendorf
- Dmitry A Gordenin
- Dominik Glodzik
- Don Chalmers
- Dong Guanlan
- Dongbing Liu
- Donghoon Lee
- Donghui Tan
- Donna M Muzny
- Dorthe Grabau
- Douglas A Levine
- Douglas F Easton
- Douglas Voet
- Duncan Beardsmore
- Dursi Lewis Jonathan
- Edward W Rowe
- Eigo Shimizu
- Ekta Khurana
- Elaine R Mardis
- Electron Kebebew
- Elena Piñeiro-Yáñez
- Elena Provenzano
- Elias Campo
- Elisabet Barrera
- Elisabetta Sereni
- Elizabeth A Musgrove
- Elizabeth L Appelbaum
- Elizabeth L Christie
- Elli Papaemmanuil
- Ellrott Kyle
- Emilie Lalonde
- Eoghan Harrington
- Eric Chuah
- Eric Green
- Eric Lander
- Eric Minwei Liu
- Eric Z Ma
- Eric Z Ma
- Erik Garrison
- Erik Larsson
- Erik Mayer
- Erik N Bergstrom
- Erin Curley
- Ermin Hodzic
- Erwin G Van Meir
- Esa Pitkänen
- Esther Rheinbay
- Esther Rheinbay
- Eun Pyo Hong
- Eunjung Alice Lee
- Eva G Alvarez
- Eva Hellstrom-Lindberg
- Ewan Birney
- F Germán RodrÃguez-González
- Fabien C Lamaze
- Fabien Calvo
- Fabio C P Navarro
- Faiyaz Notta
- Fan Yang
- Fan Zhang
- Faraz Hach
- Faraz Hach
- Faridah Mbabaali
- Fatima Al-Shahrour
- Federico Abascal
- Fei-Fei Liu
- Felicity Newell
- Fenglin Liu
- Fernanda Amary
- Ferran Muiños
- Florian Markowetz
- Fouad Yousif
- Francesc Muyas
- Francesco Favero
- Francisco M De La Vega
- Francisco Sanchez-Vega
- Fraser R Duthie
- Fred Sweep
- Freddie C Hamdy
- Fruzsina Molnár-Gábor
- Fumie Hosoda
- G Petur Nielsen
- G Steven Bova
- Gad Getz
- Gad Getz
- Gad Getz
- Gaetan MacGrogan
- Gaetano Finocchiaro
- Gary D Bader
- Gavin Ha
- Gavin W Wilson
- Genta Nagae
- Geoff Macintyre
- George B Hanna
- George L Mihaiescu
- Georgia Escaramis
- Georgina V Long
- Gerd Nettekoven
- German M Demidov
- German Ott
- Gerrit K Hooijer
- Gerstein Mark B
- Gert G Van den Eynden
- Getz Gad
- Ghislaine Scelo
- Giada Bonizzato
- Giampaolo Tortora
- Gilles Romieu
- Gilles Thomas
- Giovanni Marchegiani
- Gisela Mir Arnau
- Giuseppe Malleo
- Gloria M Petersen
- Gordon B Mills
- Gordon B Mills
- Gordon Saksena
- Gordon Saksena
- Gordon Saksena
- Grace Tiao
- Grace Tiao
- Graham J Mann
- Grant Sanders
- Gu Kong
- Guanming Wu
- Guido Reifenberger
- Guido Sauter
- Guillaume Bourque
- Gulietta M Pupo
- Gun Ho Jang
- Gunes Gundem
- Gunnar Rätsch
- Gurnit Atwal
- Hailei Zhang
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- Sushant Kumar
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- Sylvia Asa
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- Tomoko Urushidate
- Torill Sauer
- Toru Nakamura
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- Vasilisa A Rudneva
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- Venkata D Yellapantula
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- Veronica Y Sabelnykova
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- Vikram Deshpande
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- Vincent Huang
- Vincent J Gnanapragasam
- Vincent Khoo
- Vincenzo Corbo
- Vishal S Chandan
- Volker Hovestadt
- W Kimryn Rathmell
- W M Linehan
- Walker Hale
- Wan Choi
- Wanding Zhou
- Wang Liang-Bo
- Weerasinghe Amila
- Wei Jiao
- Wendl Michael C
- Wenyi Wang
- Wenyi Wang
- Wenyi Wang
- Wheeler David A
- William B Isaacs
- William C Faquin
- William Friedman
- William Howat
- William U Meyerson
- Willie Yu
- Winghing Wong
- Wojciech Bazant
- Wolfgang Huber
- Wolfram Klapper
- Xavier Estivill
- Xavier Pivot
- Xiao Xiao
- Xiaobo Li
- Xiaoping Su
- Xiaotong Li
- Xiaotong Yao
- Xing Hua
- Xingmin Liu
- Xinyue Li
- Xiuqing Zhang
- Xiuqing Zheng
- Xose S Puente
- Xuan Le
- Xuanping Zhang
- Xuemei Luo
- Xueqing Zou
- Yan Shi
- Yan Zhang
- Yang Wu
- Yang Yang
- Yann Joly
- Yanxun Xu
- Yao He
- Yasin Senbabaoglu
- Yassen Assenov
- Yasser Riazalhosseini
- Yasuhito Arai
- Yasushi Rino
- Yasushi Totoki
- Yeng Ang
- Yi Huang
- Yi Huang
- Yifei Men
- Yiling Lu
- Yilong Li
- Yingyan Yu
- Yiwen Chen
- Yogesh Kumar
- Yogesh Kumar
- Yoke-Eng Chiew
- Yong Hou
- Yong Zhou
- Yong-Jie Lu
- Yongzhan Nie
- Yosef E Maruvka
- Yosef E Maruvka
- Yoshiiku Kawakami
- Young Seok Ju
- Youngchoon Woo
- Youngil Koh
- Youngwook Kim
- Youyong Lu
- Yu Fan
- Yu Fan
- Yu Fan
- Yu-Jia Shiah
- Yuan Ji
- Yuan Yuan
- Yuichi Shiraishi
- Yulia Newton
- Yulia Rubanova
- Yumeng Wang
- Yupeng Cun
- Yussanne Ma
- Zachary Heins
- Zechen Chong
- Zechen Chong
- Zemin Zhang
- Zhaohong Chen
- Zhenggang Wu
- Zhenggang Wu
- Zhining Wang
- Zhongming Zhao
- Ziao Lin
- Zsofia Kote-Jarai
- Ólafur Andri Stefánsson
- Øystein Garred
- Publication venue
- Nature Communications
- Publication date
- 01/01/2020
- Field of study
Funder: NCI U24CA211006Abstract: The Cancer Genome Atlas (TCGA) and International Cancer Genome Consortium (ICGC) curated consensus somatic mutation calls using whole exome sequencing (WES) and whole genome sequencing (WGS), respectively. Here, as part of the ICGC/TCGA Pan-Cancer Analysis of Whole Genomes (PCAWG) Consortium, which aggregated whole genome sequencing data from 2,658 cancers across 38 tumour types, we compare WES and WGS side-by-side from 746 TCGA samples, finding that ~80% of mutations overlap in covered exonic regions. We estimate that low variant allele fraction (VAF < 15%) and clonal heterogeneity contribute up to 68% of private WGS mutations and 71% of private WES mutations. We observe that ~30% of private WGS mutations trace to mutations identified by a single variant caller in WES consensus efforts. WGS captures both ~50% more variation in exonic regions and un-observed mutations in loci with variable GC-content. Together, our analysis highlights technological divergences between two reproducible somatic variant detection efforts
Acute myeloid leukemia incidence following radiation therapy for localized or locally advanced prostate adenocarcinoma
- Author
- Abdel-Wahab
- Austin
- Austin
- Bennett
- Boice
- Brenner
- Chalasani
- Cox
- Delongchamps
- Dreicer
- Estey
- Flaig
- Freedland
- Gershkevitsh
- Godley
- Greenland
- Grignon
- Hafeman
- Hernán
- Houterman
- Karan P. Singh
- Larsson
- Leone
- Liauw
- Lichtman
- Lori A. Fischbach
- Marr
- Martha J. Felini
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- Yamaguchi Rui
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- Yamamoto Masakazu
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- Yang Yang
- Yao Xiaotong
- Yaspo Marie-Laure
- Yates Lucy
- Yau Christina
- Ye Chen
- Ye Kai
- Yellapantula Venkata D.
- Yoon Christopher J.
- Yoon Sung-Soo
- Yousif Fouad
- Yu Jun
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- Yu Willie
- Yu Yingyan
- Yuan Ke
- Yuan Yuan
- Yuen Denis
- Yugawa Takashi
- Yung Christina K.
- Zaikova Olga
- Zamora Jorge
- Zapatka Marc
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- Zhang Hongwei
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- Zhang Xuanping
- Zhang Yan
- Zhang Zemin
- Zhao Zhongming
- Zheng Liangtao
- Zheng Xiuqing
- Zhou Wanding
- Zhou Yong
- Zhu Bin
- Zhu Hongtu
- Zhu Jingchun
- Zhu Shida
- Zou Lihua
- Zou Xueqing
- Publication venue
- Nature Communications
- Publication date
- 28/08/2020
- Field of study
Funder: Canadian Network for Research and Innovation in Machining Technology, Natural Sciences and Engineering Research Council of Canada (NSERC Canadian Network for Research and Innovation in Machining Technology); doi: https://doi.org/10.13039/501100002790Funder: Genome Canada (Génome Canada); doi: https://doi.org/10.13039/100008762Funder: Canada Foundation for Innovation (Fondation canadienne pour l'innovation); doi: https://doi.org/10.13039/501100000196Funder: Terry Fox Research Institute (Institut de Recherche Terry Fox); doi: https://doi.org/10.13039/501100004376Abstract: Sex differences have been observed in multiple facets of cancer epidemiology, treatment and biology, and in most cancers outside the sex organs. Efforts to link these clinical differences to specific molecular features have focused on somatic mutations within the coding regions of the genome. Here we report a pan-cancer analysis of sex differences in whole genomes of 1983 tumours of 28 subtypes as part of the ICGC/TCGA Pan-Cancer Analysis of Whole Genomes (PCAWG) Consortium. We both confirm the results of exome studies, and also uncover previously undescribed sex differences. These include sex-biases in coding and non-coding cancer drivers, mutation prevalence and strikingly, in mutational signatures related to underlying mutational processes. These results underline the pervasiveness of molecular sex differences and strengthen the call for increased consideration of sex in molecular cancer research