39 research outputs found
Identification of Novel Single Nucleotide Polymorphisms in Inflammatory Genes as Risk Factors Associated with Trachomatous Trichiasis
- Author
- A Bacon
- A Natividad
- A Natividad
- A Natividad
- AM Abu el-Asrar
- Amanda Ewart Toland
- AT Broman
- B Aggarwal
- B Atik
- B Muñoz
- B Thylefors
- B Wu
- Bassant Sharma
- Berna Atik
- C Uyttenhove
- D Dean
- D Dean
- D Hafler
- D Pennica
- Deborah Dean
- DJ Conway
- DM Williams
- ES West
- H Tanaka
- H Zhang
- Henry Erlich
- Him Kant Adhikari
- I Ruczinski
- J Holmgren
- J Igietseme
- J Kaifi
- J King
- J Knight
- J Ngondi
- J Ngondi
- J Renauld
- J Schachter
- J Shaw
- JL Perfettini
- JU Igietseme
- K Miller
- K Ozaki
- KA Kelly
- L Bobo
- L Lard
- LF Barcellos
- LL Perry
- Lori Steiner
- M Burton
- M Burton
- M Melese
- M Smith
- MH Reacher
- MJ Burton
- MJ Holland
- N Faal
- N Mozzato-Chamay
- N Mozzato-Chamay
- N Roan
- N Roan
- R Bellamy
- R Bowman
- R Khandekar
- Ram Prasad Kandel
- S Holbrook
- S McCusker
- S Resnikoff
- S West
- SK West
- T Skwor
- Troy A. Skwor
- U Grohmann
- W Li
- W Modi
- Y Shemer-Avni
- Publication venue
- Public Library of Science
- Publication date
- 31/10/2008
- Field of study
infection, the primary cause of trachoma. Despite control programs that include mass antibiotic treatment, reinfection and recurrence of trachoma are common after treatment cessation. Furthermore, a subset of infected individuals develop inflammation and are at greater risk for developing the severe sequela of trachoma known as trachomatous trichiasis (TT). While there are a number of environmental and behavioral risk factors for trachoma, genetic factors that influence inflammation and TT risk remain ill defined. = 0.001] with the combination of TNFA (-308A), LTA (252A), VCAM1 (-1594C), SCYA 11 (23T) minor allele, and the combination of TNFA (-308A), IL9 (113M), IL1B (5′UTR-T), and VCAM1 (-1594C). However, TT risk increased 13.5 times [odds ratio = 13.5 (95% confidence interval 3.3–22), p = 0.001] with the combination of TNFA (-308G), VDR (intron G), IL4R (50V), and ICAM1 (56M) minor allele.Evaluating genetic risk factors for trachoma will advance our understanding of disease pathogenesis, and should be considered in the context of designing global control programs
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
Integrated genomic characterization of oesophageal carcinoma
- Author
- Abeshouse Adam
- Ajani Jaffer A.
- Akbani Rehan
- Ally Adrian
- Appelbaum Elizabeth L.
- Armenia Joshua
- Arora Arshi
- Balasundaram Miruna
- Bartlett John
- Bass Adam J.
- Baylin Stephen B.
- Beer David G.
- Behera Madhusmitara
- Bennett Joseph
- Bernard Brady
- Beroukhim Rameen
- Berrios Mario
- Bootwalla Moiz S.
- Boussioutas Alex
- Bowen Jay
- Bowlby Reanne
- Bristow Christopher A.
- Brooks Denise
- Bullman Susan
- Button Michael
- Camargo M. Constanza
- Carey Frank
- Carlotti Carlos Gilberto
- Carlsen Rebecca
- Carvalho Andre L.
- Chakravarty Debyani
- Chalmers Sally
- Cheong Jae-Ho
- Cherniack Andrew D.
- Chetty Runjan
- Chin Lynda
- Cho Juok
- Chuah Eric
- Cibulskis Carrie
- Cibulskis Kristian
- Cordes Matthew G.
- Crain Daniel
- Curley Erin
- Curtis Christina
- Da Cunha Tirapelli Daniela Pretti
- Darling Gail
- De Oliveira Antonio Talvane
- Defrietas Timothy
- Demchok John
- Demchok John A.
- Den Berg David J. Van
- Derks Sarah
- Dhalla Noreen
- Dhankani Varsha
- Dhir Rajiv
- DIng Li
- DInjens Winand
- Dos Santos Jose Sebastiaõ
- Dubina Michael
- Dunford Andrew
- El-Zimaity Haila
- Eschbacher Jennifer
- Felau Ina
- Ferguson Martin L.
- Ferrer-Torres Daysha
- Force Seth
- Frazer Scott
- Frick Jessica
- Fronick Catrina C.
- Fulidou Victoria
- Fulton Lucinda A.
- Fulton Robert S.
- Gabriel Stacey B.
- Gao Jianjiong
- Gardner Johanna
- Garman Katherine
- Gastier-Foster Julie M.
- Gehlenborg Nils
- Gerken Mark
- Getz Gad
- Godwin Andrew
- Gulley Margaret L.
- Hadjipanayis Angela
- Hegde Apruva
- Heiman David I.
- Hinoue Toshinori
- Hoadley Katherine A.
- Holbrook Andrea
- Holt Robert A.
- Huelsenbeck-DIll Lori
- Hutter Carolyn M.
- Hwang Jun-Eul
- Iacocca Mary
- IanForgie Dundee
- Iype Lisa
- Jang Hee-Jin
- Janjigian Yelena
- Jones Steven J. M.
- Juhl Hartmut
- Kasaian Katayoon
- Kelsen David P.
- Kemp Rafael
- Khuri Fadio
- Kim Goyang Hark Kyun
- Kim Jaegil
- Kim Jihun
- Knox Jennifer
- Kucherlap Melanie
- Kucherlapati Raju
- Kundra Ritika
- Kwon Sun Young
- Ladanyi Marc
- Lai Phillip H.
- Laird Peter W.
- Lander Eric
- Lawrence Michael
- Lawrence Michael S.
- Le Xuan
- Lee Jae-Hyuck
- Lee Ju-Seog
- Lee Semin
- Lehmann Kjong-Van
- Leraas Kristen
- Leraas Kristen M.
- Li Haiyan I.
- Lichtenberg Tara M.
- Lin Pei
- Liu Geoffrey
- Liu Jai
- Liu Ouida
- Liu Wenbin
- Lolla Laxmi
- Lu Yiling
- Lucchesi Fabiano
- Luketich James D.
- Ma Yussanne
- Madan Rashna
- Mahadeshwar Harshad S.
- Mallery David
- Mardis Elaine R.
- Marra Marco A.
- Matsushita Marcus Medeiros
- Mayo Michael
- McCall Shannon J.
- McLellan Michael
- McLellan Michael D.
- Meier Samuel R.
- Meyerson Matthew
- Miller Christopher A.
- Miller Michael
- Mills Gordon B.
- MillsShaw Kenna R.
- Moore Richard A.
- Morris Scott
- Mozgovoy Eugene
- Mungall Andrew J.
- Mungall Karen L.
- Murray Bradley A.
- Naima Zaid
- Naresh Rashi
- Nistelrooij Anna Van
- Noble Michael S.
- Noushmehr Houtan
- Odze Robert D.
- Ojesina Akinyemi I.
- Owonikoko Taofeek
- Paklina Oxana
- Pantazi Angeliki
- Parfenov Michael
- Parfitt Jeremy
- Park Do Young
- Park Peter J.
- Park Young Soo
- Paulauskis Joseph
- Pedamallu Chandra Sekhar
- Pennathur Arjun
- Penny Robert
- Piazuelo M. Blanca
- Pickens Allan
- Pihl Todd
- Polak Paz
- Potapova Cureline Olga
- Protopopov Alexei
- Rabkin Charles S.
- Radenbaugh Cruz Amie
- Ramalingam Suresh
- Ramirez Nilsa C.
- Raphae Benjamin J.
- Raphael
- Rathme W. Kimryn
- Reid Brian J.
- Reilly Colleen
- Reis Rui Manuel
- Ren Xiaojia
- Reynolds Sheila M.
- Robertson A. Gordon
- Saggioro Fabiano Pinto
- Sakai Ku Leuven Ryo
- Saksena Gordon
- Saller Charles
- Sander Chris
- Sandusky George
- Sankarankutty Ajith Kumar
- Schein Jacqueline E.
- Schmidt Heather K.
- Schneider Barbara G.
- Schultz Nikolaus
- Schumacher Steven E.
- Seoane Jose A.
- Setdikova Galiya
- Seth Sahil
- Sharp Alexis
- Shelton Candace
- Shelton Troy
- Shen Hui
- Shen Ronglai
- Sheth Margi
- Shih Juliann
- Shmulevich Ilya
- Sica Gabriel
- Sipahimalani Payal
- Sofia Heidi J.
- Sohn Bo Hwa
- Song Xingzhi
- Stepa Serghei
- Stewart Chip
- Sun Qiang
- Sánchez-Vega Francisco
- Tam Angela
- Tang Jiabin
- Tang Laura
- Tarnuzzer Roy
- Tarvin Katherine
- Taylor-Weiner Amaro
- Thiessen Nina
- Thorsson Vésteinn
- Trevisan Felipe Amstalden
- Vinco Michele
- Voet Doug
- Voronina Olga
- Wan Yunhu
- Wang Kenneth
- Wang Zhining
- Weinhold Nils
- Weinstein John N.
- Weisenberger Daniel J.
- Wijnhoven Bas
- Willis Joseph E.
- Wilson Richard K.
- Wise Lisa
- Wiznerowicz MacIej
- Wong Alexandra M.
- Wong Rebecca
- Wong Tina
- Wu Hsin-Ta
- Wu Ye
- Yang Liming
- Yang Lixing
- Zenklusen Jean Claude
- Zhang Hailei
- Zhang Hongxin
- Zhang Jiashan
- Zhang Julia
- Zhang Wei
- Zhangw Jianhua
- Zhou Zhongren
- Zmuda Erik
- Zornig Hamburg Carsten
- Publication venue
- Publication date
- 01/01/2017
- Field of study
Oesophageal cancers are prominent worldwide; however, there are few targeted therapies and survival rates for these cancers remain dismal. Here we performed a comprehensive molecular analysis of 164 carcinomas of the oesophagus derived from Western and Eastern populations. Beyond known histopathological and epidemiologic distinctions, molecular features differentiated oesophageal squamous cell carcinomas from oesophageal adenocarcinomas. Oesophageal squamous cell carcinomas resembled squamous carcinomas of other organs more than they did oesophageal adenocarcinomas. Our analyses identified three molecular subclasses of oesophageal squamous cell carcinomas, but none showed evidence for an aetiological role of human papillomavirus. Squamous cell carcinomas showed frequent genomic amplifications of CCND1 and SOX2 and/or TP63, whereas ERBB2, VEGFA and GATA4 and GATA6 were more commonly amplified in adenocarcinomas. Oesophageal adenocarcinomas strongly resembled the chromosomally unstable variant of gastric adenocarcinoma, suggesting that these cancers could be considered a single disease entity. However, some molecular features, including DNA hypermethylation, occurred disproportionally in oesophageal adenocarcinomas. These data provide a framework to facilitate more rational categorization of these tumours and a foundation for new therapies
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
Effects of Anacetrapib in Patients with Atherosclerotic Vascular Disease
- Author
- Aaltonen M
- Abdur Rahman M
- Abell T
- Abide W. Jr
- Acheatel R
- Achiri P
- Acon J
- Adams T
- Affinito S
- Agarwal S
- Aggarwal K
- Aggarwal R
- Ahlström P
- Ahmad A
- Ahmed M
- Aillon C
- Airaksinen A
- Ait-sadi R
- Akers J
- Al-jumaily J
- Albers C
- Albert M
- Alberti A
- Alexander T
- Alford C
- Algotsson L
- Allen T
- Allworth M
- Almond E
- Aloisi A
- Alternburg C
- Alton M
- Amin J
- Amundson A
- Andersen K
- Andersen M
- Anderson E
- Anderson G
- Anderson R
- Anderson T
- Andersson H
- Andersson L
- Andreo J
- Andres C
- Andresen D
- Andrews G
- Andrews L
- Andrews R
- Andrioli V
- Angermann Ce
- Annas T
- Ansell V
- Antonio-drabek C
- Antonishen D
- Antonishen M
- Anuschek V
- Appel Kf
- Appel S
- Appleyard D
- Archer A
- Armitage J
- Armstrong L
- Armstrong M
- Arnesson K
- Arnold M
- Arora P
- Arp H
- Asbill B
- Ashbrook-raby C
- Ashton L
- Assarsson E
- Audet K
- Augenbraun C
- Aung HNIN THANDA
- Auscher S
- Ausner J
- Aviles R
- Awasty V
- Axelsson U
- Ayers S
- Ayub H
- Babar G
- Babington G
- Backlund M
- Badal B
- Baggiore C
- Baghiana S
- Bai H
- Bai J
- Baigent C
- Baillargeon G
- Bakbak A
- Baker S
- Baldin Mg
- Baldini E
- Baldwin E
- Ballantyne C
- Baltic A
- Banerjee S
- Bang Hansen M
- Banks K
- Bansilal S
- Barkley-daughtry S
- Barnes D
- Barnes E
- Barnett S
- Baroni Claudio
- Barry S
- Barter P
- Bartolomei Mecatti B
- Barton I
- Barton J
- Baré C
- Bashton D
- Basler M
- Bastani L
- Basvi P
- Batchlett K
- Bateman S
- Battistelli E
- Baty J
- Bauersachs J
- Bauman A
- Bavendiek U
- Baxter A
- Bayly G
- Bays H
- Beasley T
- Beck P
- Beck S
- Becker P
- Beebe S
- Been M
- Begg R
- Behm K
- Beilker J
- Beißner S
- Bekfani T
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- Zeuthen E
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- Zhang Ting
- Zhang Wen
- Zhang X
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- Zhao C
- Zhao JIAYI STELLA
- Zhao L
- Zhao P
- Zhao R
- Zhao Y
- Zheng Y
- Zheng Z
- Zhi Y
- Zhong H
- Zhong R
- Zhou C
- Zhou Juan
- Zhou Xingyu
- Zhou Yingyuan
- Zhu Wangqin
- Zhu X
- Zhu Y
- Ziefle S
- Zilz N
- Zineldine A
- Zlatewa R
- Zoghbi J
- Zong C
- Zong D
- Zong X
- Zuchelkowski A
- Zulauf N
- Ågårdh A
- Öner A
- Publication venue
- 'Massachusetts Medical Society'
- Publication date
- 01/01/2017
- Field of study
BACKGROUND:
Patients with atherosclerotic vascular disease remain at high risk for cardiovascular events despite effective statin-based treatment of low-density lipoprotein (LDL) cholesterol levels. The inhibition of cholesteryl ester transfer protein (CETP) by anacetrapib reduces LDL cholesterol levels and increases high-density lipoprotein (HDL) cholesterol levels. However, trials of other CETP inhibitors have shown neutral or adverse effects on cardiovascular outcomes.
METHODS:
We conducted a randomized, double-blind, placebo-controlled trial involving 30,449 adults with atherosclerotic vascular disease who were receiving intensive atorvastatin therapy and who had a mean LDL cholesterol level of 61 mg per deciliter (1.58 mmol per liter), a mean non-HDL cholesterol level of 92 mg per deciliter (2.38 mmol per liter), and a mean HDL cholesterol level of 40 mg per deciliter (1.03 mmol per liter). The patients were assigned to receive either 100 mg of anacetrapib once daily (15,225 patients) or matching placebo (15,224 patients). The primary outcome was the first major coronary event, a composite of coronary death, myocardial infarction, or coronary revascularization.
RESULTS:
During the median follow-up period of 4.1 years, the primary outcome occurred in significantly fewer patients in the anacetrapib group than in the placebo group (1640 of 15,225 patients [10.8%] vs. 1803 of 15,224 patients [11.8%]; rate ratio, 0.91; 95% confidence interval, 0.85 to 0.97; P=0.004). The relative difference in risk was similar across multiple prespecified subgroups. At the trial midpoint, the mean level of HDL cholesterol was higher by 43 mg per deciliter (1.12 mmol per liter) in the anacetrapib group than in the placebo group (a relative difference of 104%), and the mean level of non-HDL cholesterol was lower by 17 mg per deciliter (0.44 mmol per liter), a relative difference of -18%. There were no significant between-group differences in the risk of death, cancer, or other serious adverse events.
CONCLUSIONS:
Among patients with atherosclerotic vascular disease who were receiving intensive statin therapy, the use of anacetrapib resulted in a lower incidence of major coronary events than the use of placebo. (Funded by Merck and others; Current Controlled Trials number, ISRCTN48678192 ; ClinicalTrials.gov number, NCT01252953 ; and EudraCT number, 2010-023467-18 .)
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-Otín
- 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
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- Suyash S Shringarpure
- Syed Haider
- Sylvia Asa
- Søren Brunak
- Takafumi N Yamaguchi
- Takafumi N Yamaguchi
- Takanori Hasegawa
- Takashi Yugawa
- Takashi Yugawa
- Takuji Okusaka
- Tal Shmaya
- Tannistha Nandi
- Taobo Hu
- Taobo Hu
- Tapio Visakorpi
- Tara J Skelly
- Tari A King
- Tatsuhiko Tsunoda
- Tatsuhiro Shibata
- Ted R Hupp
- Tetsuo Ushiku
- Theodorus Van der Kwast
- Thomas E Carey
- Thomas J Hudson
- Thomas J Matthew
- Thomas J Mitchell
- Thorsten Schlomm
- Thorsten Zenz
- Tian Xia
- Tim Dudderidge
- Tim Ley
- Timothy A Beck
- Timothy Defreitas
- Timothy J C Bruxner
- Timothy J Underwood
- Tina Wong
- Tirso Pons
- Tobias Madsen
- Tobias Rausch
- Todd A Johnson
- Todd D Pihl
- Tom Bodenheimer
- Tom Mikkelsen
- Tom Roques
- Tomas J Tanskanen
- Tomas Marques-Bonet
- Tomoko Urushidate
- Torill Sauer
- Toru Nakamura
- Treasa A McPherson
- Troy Shelton
- Tsun-Po Yang
- Ultan McDermott
- Umadevi Veluvolu
- Umut H Toprak
- Valerie Jakrot
- Varsha Tembe
- Vasilisa A Rudneva
- Venkata D Yellapantula
- Venkata D Yellapantula
- Vera B Kaiser
- Veronica Y Sabelnykova
- Victor Reuter
- Vikram Deshpande
- Viktoriya Korchina
- Ville Mustonen
- Vinayak Bhandari
- Vincent Ferretti
- Vincent Huang
- 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
The Pendulum Swings Back: The Impact of Recent SCOTUS and Federal Circuit Cases
- Publication venue
- Northwestern Pritzker School of Law Scholarly Commons
- Publication date
- 01/01/2008
- Field of study
The Pendulum Swings Back: The Impact of Recent SCOTUS and Federal Circuit Cases
- Publication venue
- Northwestern Pritzker School of Law Scholarly Commons
- Publication date
- 01/01/2008
- Field of study
Combat blast injuries: Injury severity and posttraumatic stress disorder interaction on career outcomes in male servicemembers
- Author
- Publication venue
- 'Journal of Rehabilitation Research & Development'
- Publication date
- 01/01/2013
- Field of study