39 research outputs found
La construcción de un concepto de ciencia en Chile: Manuel de Salas y Claudio Gay
- Publication venue
- 'Universidad de Chile'
- Publication date
- 01/01/1993
- Field of study
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
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
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
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- Rita T Lawlor
- Ritika Kundra
- Robert A Holt
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- Rui Xing
- Rui Yamaguchi
- Ruian Shi
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- Sabina Signoretti
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- Sebastian M Waszak
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- Sergei Yakneen
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- Seung-Hyup Jeon
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- Shadrielle M G Espiritu
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- Sheila M Reynolds
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- Shengjie Gao
- Shengjie Gao
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- Shimin Shuai
- Shinichi Mizuno
- Shinichi Yachida
- Shinya Hayami
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- Shriram G Bhosle
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- Shumpei Ishikawa
- Shun-Ichi Ariizumi
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- Singer Ma
- Sinisa Ivkovic
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- Stefania Tommasi
- Stefano Barbi
- Stefano Serra
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- Stephan Ossowski
- Stephan Ossowski
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- Stephanie Sungalee
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- Stephen H Kazakoff
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- Sultan T Al-Sedairy
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- Sung-Soo Yoon
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- Susan Bullman
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- Sushant Kumar
- Suyash S Shringarpure
- Syed Haider
- Sylvia Asa
- Søren Brunak
- Takafumi N Yamaguchi
- Takafumi N Yamaguchi
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- Taobo Hu
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- Tian Xia
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- Torill Sauer
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- Vikram Deshpande
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- Vincent Huang
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- Vincenzo Corbo
- Vishal S Chandan
- Volker Hovestadt
- W Kimryn Rathmell
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- Walker Hale
- Wan Choi
- Wanding Zhou
- Wang Liang-Bo
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- Wei Jiao
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- Winghing Wong
- Wojciech Bazant
- Wolfgang Huber
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- Xavier Estivill
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- 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
Global variations in diabetes mellitus based on fasting glucose and haemogloblin A1c
- Author
- Abbasi-Kangevari Mohsen
- Abdul Rahim Hanan F.
- Abu-Rmeileh Niveen M.
- Adambekov Shalkar
- Adams Robert J.
- Aekplakorn Wichai
- Agdeppa Imelda A.
- Aghazadeh-Attari Javad
- Aguilar-Salinas Carlos A.
- Agyemang Charles
- Ahmad Noor Ani
- Ahmadi Ali
- Ahmadi Naser
- Ahmadi Nastaran
- Ahmed Soheir H.
- Ajlouni Kamel
- Al Asfoor Deena
- Al Qaoud Nawal M.
- Al-Hina Halima
- Al-Lahou Badreya
- Al-Lawati Jawad A.
- Alarouj Monira
- AlBuhairan Fadia
- AlDhukair Shahla
- Aldwairji Maryam A.
- Ali Mohamed M.
- Alinezhad Farbod
- Alkandari Abdullah
- Alomirah Husam F.
- Aly Eman
- Amarapurkar Deepak N.
- Andersen Lars Bo
- Anderssen Sigmund A.
- Andrade Dolores S.
- Anjana Ranjit Mohan
- Ansari-Moghaddam Alireza
- Aounallah-Skhiri Hajer
- Aris Tahir
- Arlappa Nimmathota
- Aryal Krishna K.
- Assah Felix K.
- Assembekov Batyrbek
- Auvinen Juha
- Avdičová Mária
- Azad Kishwar
- Azimi-Nezhad Mohsen
- Azizi Fereidoun
- Bacopoulou Flora
- Balakrishna Nagalla
- Bamoshmoosh Mohamed
- Banach Maciej
- Bandosz Piotr
- Banegas José R.
- Bao Tran Quoc
- Barbagallo Carlo M.
- Barceló Alberto
- Baretić Maja
- Barrera Lena
- Basit Abdul
- Batieha Anwar M.
- Batista Aline P.
- Baur Louise A.
- Belavendra Antonisamy
- Benchekor Sounnia Mediene
- Benet Mikhail
- Bennett James E.
- Berkinbayev Salim
- Bernabe- Ortiz Antonio
- Berrios Carrasola Ximena
- Bettiol Heloísa
- Beybey Augustin F.
- Bhargava Santosh K.
- Bika Lele Elysée Claude
- Bikbov Mukharram M.
- Bista Bihungum
- Bjerregaard Peter
- Bjertness Espen
- Bjertness Marius B.
- Björkelund Cecilia
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- Bo Simona
- Bobak Martin
- Boggia Jose G.
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- Bonilla-Vargas Alice
- Borghs Herman
- Bovet Pascal
- Brajkovich Imperia
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- Brewster Lizzy M.
- Brian Garry R.
- Briceño Yajaira
- Brito Miguel
- Bugge Anna
- Buntinx Frank
- Cabrera de León Antonio
- Caixeta Roberta B.
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- Casanueva Felipe F.
- Censi Laura
- Cervantes‐Loaiza Marvin
- Chamnan Parinya
- Chamukuttan Snehalatha
- Chan Queenie
- Charchar Fadi J.
- Chaturvedi Nish
- Chen Huashuai
- Cheraghian Bahman
- Chirlaque María-Dolores
- Chudek Jerzy
- Cifkova Renata
- Cirillo Massimo
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- Cowell Chris
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- De Curtis Amalia
- de Gaetano Giovanni
- De Henauw Stefaan
- Deepa Mohan
- DeGennaro Vincent Jr
- Demarest Stefaan
- Dennison Elaine
- Deschamps Valérie
- Dhimal Meghnath
- Dika Zivka
- Djalalinia Shirin
- Donfrancesco Chiara
- Dong Guanghui
- Dorobantu Maria
- dos Santos Henrique Rafael
- Dragano Nico
- Drygas Wojciech
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- Duante Charmaine A.
- Duboz Priscilla
- Dushpanova Anar
- Dziankowska-Zaborszczyk Elzbieta
- Dörr Marcus
- D’Arrigo Graziella
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- Ebrahimi Narges
- Eddie Ricky
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- El-Khateeb Mohammad
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- Ghamari Hadi
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- Ghimire Anup
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- Grafnetter Dušan
- Gregg Edward W.
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- Grøntved Anders
- Guerrero Ramiro
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- Ijoma Chinwuba
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- Joshi Pradeep
- Josipović Josipa
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- Jääskeläinen Tuija
- Jóźwiak Jacek
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- Karki Khem B.
- Katibeh Marzieh
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- Kazakbaeva Gyulli M.
- Kaze François F.
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- Keinänen-Kiukaanniem Sirkka
- Kelishadi Roya
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- Khaledifar Arsalan
- Khalili Davood
- Khang Young-Ho
- Kheiri Bahareh
- Kheradmand Motahareh
- Khosravi Alireza
- Kiechl Sophia J.
- Kiechl Stefan
- Kiechl-Kohlendorfer Ursula
- Kim Hyeon Chang
- Kingston Andrew
- Klakk Heidi
- Klanova Jana
- Knoflach Michael
- Kolsteren Patrick
- Korpelainen Raija
- Korrovits Paul
- Kos Jelena
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- Kowlessur Sudhir
- Koziel Slawomir
- Kriemler Susi
- Kromhout Daan
- Kubinova Ruzena
- Kujala Urho M.
- Kulimbet Mukhtar
- Kumar Rachakulla Hari
- Kurjata Pawel
- Kyobutungi Catherine
- König Jürgen
- Laatikainen Tiina
- Labadarios Demetre
- Lachat Carl
- Laid Youcef
- Lall Lachmie
- Lankila Tiina
- Lanska Vera
- Lappas Georg
- Larijani Bagher
- Latt Tint Swe
- Laurenzi Martino
- Laxmaiah Avula
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- Lehtimäki Terho
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- Lin Hsien-Ho
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- Liu Xiaotian
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- Lu Yuan
- Luksiene Dalia
- Lund Kristensen Peter
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- Malekzadeh Fatemeh
- Malekzadeh Reza
- Malyutina Sofia
- Maniego Lynell V.
- Manios Yannis
- Mannix Masimango Imani
- Mansour-Ghanaei Fariborz
- Manzato Enzo
- Margozzini Paula
- Mariño Joany
- Martorell Reynaldo
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- Mathiesen Ellisiv B.
- Matsha Tandi E.
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- Meshram Indrapal I.
- Meto Diane T.
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- Mirjalili Mohammad Reza
- Mishra Anu
- Modesti Pietro A.
- Moghaddam Sahar Saeedi
- Mohamed Mostafa K.
- Mohammad Kazem
- Mohammadi Mohammad Reza
- Mohammadi Zahra
- Mohammadifard Noushin
- Mohammadpourhodki Reza
- Mohan Viswanathan
- Mohd Yusoff Muhammad Fadhli
- Mohebbi Iraj
- Molnár Dénes
- Momenan Amirabbas
- Mondo Charles K.
- Montenegro Mendoza Roger A.
- Monterrubio-Flores Eric
- Moosazadeh Mahmood
- Moradpour Farhad
- Morejon Alain
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- Moslem Alireza
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- NCD Risk Factor Collaboration (NCD-RisC)
- Neelapaichit Nareemarn
- Nejatizadeh Azim
- Nenko Ilona
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- Ng Tze Pin
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- Nguyen Chung T.
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- Rohloff Peter
- Romdhane Habiba Ben
- Romeo Elisabetta L.
- Rosengren Annika
- Rubinstein Adolfo
- Rust Petra
- Rutkowski Marcin
- Sabbaghi Hamideh
- Sachdev Harshpal S.
- Sadjadi Alireza
- Safarpour Ali Reza
- Safi Sare
- Safiri Saeid
- Saghi Mohammad Hossien
- Saidi Olfa
- Saki Nader
- Salanave Benoit
- Salonen Jukka T.
- Salvetti Massimo
- Santos Diana A.
- Santos Lèlita C.
- Santos Maria Paula
- Santos Tamara R.
- Saramies Jouko L.
- Sardinha Luis B.
- Sarrafzadegan Nizal
- Saum Kai-Uwe
- Savin Stefan
- Sbaraini Mariana
- Scazufca Marcia
- Schaan Beatriz D.
- Scheidt-Nave Christa
- Schipf Sabine
- Schmidt Carsten O.
- Schramm Sara
- Schöttker Ben
- Sebert Sylvain
- Sedaghattalab Moslem
- Sein Aye Aye
- Sepanlou Sadaf G.
- Sewpaul Ronel
- Shamah-Levy Teresa
- Shamshirgaran Seyed Morteza
- Sharafkhah Maryam
- Shariful Islam Sheikh Mohammed
- Sharma Sanjib K.
- Sharman Almaz
- Shaw Jonathan E.
- Shayanrad Amaneh
- Shayesteh Ali Akbar
- Sheffer Kate E.
- Shimizu-Furusawa Hana
- Shiri Rahman
- Shrestha Namuna
- Si-Ramlee Khairil
- Silva Diego Augusto Santos
- Simon Mary
- Simons Judith
- Simons Leon A.
- Singleton Rosie K.
- Sjöström Michael
- Slowikowska-Hilczer Jolanta
- Slusarczyk Przemysław
- Smeeth Liam
- Sobngwi Eugène
- Soemantri Agustinus
- Sofat Reecha
- Solfrizzi Vincenzo
- Somi Mohammad Hossein
- Soumaré Aïcha
- Sousa-Poza Alfonso
- Sparrenberger Karen
- Staessen Jan A.
- Stavreski Bill
- Steene-Johannessen Jostein
- Stehle Peter
- Stein Aryeh D.
- Stessman Jochanan
- Stevens Gretchen A.
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- Stronks Karien
- Suarez-Ortegón Milton F.
- Suebsamran Phalakorn
- Sundström Johan
- Suriyawongpaisal Paibul
- Sylva René Charles
- Szklo Moyses
- Sánchez-Abanto Jose
- Söderberg Stefan
- Tamosiunas Abdonas
- Tapani Huhtaniemi Ilpo
- Tarawneh Mohammed Rasoul
- Tarqui-Mamani Carolina B.
- Taylor Anne
- Taylor Julie
- Tello Tania
- Than Htike Maung Maung
- Thankappan K. R.
- Theobald Holger
- Theodoridis Xenophon
- Thomas Nihal
- Thrift Amanda G.
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- Tjandrarini Dwi H.
- Tolonen Hanna K.
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- Tomaszewski Maciej
- Topbas Murat
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- Traissac Pierre
- Triantafyllou Areti
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- Tuliakova Azaliia M.
- Tulloch-Reid Marshall K.
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- Tzala Evangelia
- Tzourio Christophe
- Ueda Peter
- Ugel Eunice
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- Uusitalo Hannu M. T.
- Valdivia Gonzalo
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- Van der Heyden Johan
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- Vander Hoorn Stephen
- Vanderschueren Dirk
- Vanuzzo Diego
- Vasan Senthil K.
- Vega Tomas
- Velasquez-Melendez Gustavo
- Venkat Narayan K. M.
- Verstraeten Roosmarijn
- Viana Peixoto Sergio
- Viet Lucie
- Villalpando Salvador
- Vioque Jesus
- Virtanen Jyrki K.
- Viswanathan Bharathi
- Voutilainen Ari
- Wade Alisha N.
- Wan Bebakar Wan Mohamad
- Wan Mohamud Wan Nazaimoon
- Wang Chongjian
- Wang Ningli
- Wang Qian
- Wang Ya Xing
- Wang Ying-Wei
- Wannamethee S. Goya
- Webster-Kerr Karen
- Wedderkopp Niels
- Wei Wenbin
- Westbury Leo D.
- Whincup Peter H.
- Widhalm Kurt
- Widyahening Indah S.
- Wilks Rainford J.
- Willeit Johann
- Willeit Peter
- Wilsgaard Tom
- Więcek Andrzej
- Wojtyniak Bogdan
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- Wong Emily B.
- Wong Norazizah Ibrahim
- Woodward Mark
- Wu Frederick C.
- Xu Haiquan
- Xu Liang
- Yaacob Nor Azwany
- Yan Li
- Yan Weili
- Yoosefi Moein
- Yoshihara Akihiro
- Younger-Coleman Novie O.
- Yu Yu-Ling
- Yu Yunjiang
- Yusoff Ahmad Faudzi
- Zainuddin Ahmad A.
- Zamani Farhad
- Zambon Sabina
- Zampelas Antonis
- Zaw Ko Ko
- Zdrojewski Tomasz
- Zeljkovic Vrkic Tajana
- Zeng Yi
- Zhang Zhen-Yu
- Zholdin Bekbolat
- Zhou Bin
- Zimmet Paul
- Zitt Emanuel
- Zuñiga Cisneros Julio
- Čapková Naděžda
- Šalaj Sanja
- Publication venue
- Nature Publishing Group
- Publication date
- 01/01/2023
- Field of study
Fasting plasma glucose (FPG) and haemoglobin A1c (HbA1c) are both used to diagnose
diabetes, but may identify different people as having diabetes. We used data from 117
population-based studies and quantified, in different world regions, the prevalence of
diagnosed diabetes, and whether those who were previously undiagnosed and detected
as having diabetes in survey screening had elevated FPG, HbA1c, or both. We developed
prediction equations for estimating the probability that a person without previously
diagnosed diabetes, and at a specific level of FPG, had elevated HbA1c, and vice versa.
The age-standardised proportion of diabetes that was previously undiagnosed, and
detected in survey screening, ranged from 30% in the high-income western region to 66%
in south Asia. Among those with screen-detected diabetes with either test, the agestandardised
proportion who had elevated levels of both FPG and HbA1c was 29-39%
across regions; the remainder had discordant elevation of FPG or HbA1c. In most low- and
middle-income regions, isolated elevated HbA1c more common than isolated elevated
FPG. In these regions, the use of FPG alone may delay diabetes diagnosis and
underestimate diabetes prevalence. Our prediction equations help allocate finite
resources for measuring HbA1c to reduce the global gap in diabetes diagnosis and
surveillance.peer-reviewe
La construcción de un concepto de ciencia en Chile: Manuel de Salas y Claudio Gay
- Publication venue
- Universidad de Chile. Facultad de Ciencias Sociales
- Publication date
- 01/01/1993
- Field of study
Detección del virus de la leucosis enzoótica bovina
- Publication venue
- 'Universidad de Chile'
- Publication date
- 01/01/1988
- Field of study
Detección del virus de la leucosis enzoótica bovina
- Publication venue
- Universidad de Chile. Facultad de Ciencias Veterinarias y Pecuarias
- Publication date
- 01/01/1988
- Field of study