Network expansion of genetic associations defines a pleiotropy map of human cell biology.
Nature Genetics
Barrio-Hernandez, Inigo I; Schwartzentruber, Jeremy J; Shrivastava, Anjali A; Del-Toro, Noemi N; Gonzalez, Asier A; Zhang, Qian Q; Mountjoy, Edward E; Suveges, Daniel D; Ochoa, David D; Ghoussaini, Maya M; Bradley, Glyn G; Hermjakob, Henning H; Orchard, Sandra S; Dunham, Ian I; Anderson, Carl A CA; Porras, Pablo P; Beltrao, Pedro P
Publication Date: 2023-02-23
Variant appearance in text: PTEN: 720C>G; Tyr240Ter
Improvements in Quality Control and Library Preparation for Targeted Sequencing Allowed Detection of Potentially Pathogenic Alterations in Circulating Cell-Free DNA Derived from Plasma of Brain Tumor Patients.
Cancers
Szadkowska, Paulina P; Roura, Adria-Jaume AJ; Wojtas, Bartosz B; Wojnicki, Kamil K; Licholai, Sabina S; Waller, Tomasz T; Gubala, Tomasz T; Zukowski, Kacper K; Karpeta, Michal M; Wilkus, Kinga K; Kaspera, Wojciech W; Nawrocki, Sergiusz S; Kaminska, Bozena B
KLF3 and PAX6 are candidate driver genes in late-stage, MSI-hypermutated endometrioid endometrial carcinomas.
Plos One
Rudd, Meghan L ML; Hansen, Nancy F NF; Zhang, Xiaolu X; Urick, Mary Ellen ME; Zhang, Suiyuan S; Merino, Maria J MJ; , ; Mullikin, James C JC; Brody, Lawrence C LC; Bell, Daphne W DW
KLF3 and PAX6 are candidate driver genes in late-stage, MSI-hypermutated endometrioid endometrial carcinomas.
Plos One
Rudd, Meghan L ML; Hansen, Nancy F NF; Zhang, Xiaolu X; Urick, Mary Ellen ME; Zhang, Suiyuan S; Merino, Maria J MJ; , ; Mullikin, James C JC; Brody, Lawrence C LC; Bell, Daphne W DW
Occurence of RAS reversion in metastatic colorectal cancer patients treated with bevacizumab.
Oncotarget
Epistolio, Samantha S; Cefalì, Marco M; Spina, Paolo P; Molinari, Francesca F; Movilia, Alessandra A; Cergnul, Massimiliano M; Mazzucchelli, Luca L; De Dosso, Sara S; Frattini, Milo M; Saletti, Piercarlo P
The Genomic and Immune Landscapes of Lethal Metastatic Breast Cancer.
Cell Reports
De Mattos-Arruda, Leticia L; Sammut, Stephen-John SJ; Ross, Edith M EM; Bashford-Rogers, Rachael R; Greenstein, Erez E; Markus, Havell H; Morganella, Sandro S; Teng, Yvonne Y; Maruvka, Yosef Y; Pereira, Bernard B; Rueda, Oscar M OM; Chin, Suet-Feung SF; Contente-Cuomo, Tania T; Mayor, Regina R; Arias, Alexandra A; Ali, H Raza HR; Cope, Wei W; Tiezzi, Daniel D; Dariush, Aliakbar A; Dias Amarante, Tauanne T; Reshef, Dan D; Ciriaco, Nikaoly N; Martinez-Saez, Elena E; Peg, Vicente V; Ramon Y Cajal, Santiago S; Cortes, Javier J; Vassiliou, George G; Getz, Gad G; Nik-Zainal, Serena S; Murtaza, Muhammed M; Friedman, Nir N; Markowetz, Florian F; Seoane, Joan J; Caldas, Carlos C
Publication Date: 2019-05-28
Variant appearance in text: PTEN: Y240*; rs190070312
An integrated genomic analysis of anaplastic meningioma identifies prognostic molecular signatures.
Scientific Reports
Collord, Grace G; Tarpey, Patrick P; Kurbatova, Natalja N; Martincorena, Inigo I; Moran, Sebastian S; Castro, Manuel M; Nagy, Tibor T; Bignell, Graham G; Maura, Francesco F; Young, Matthew D MD; Berna, Jorge J; Tubio, Jose M C JMC; McMurran, Chris E CE; Young, Adam M H AMH; Sanders, Mathijs M; Noorani, Imran I; Price, Stephen J SJ; Watts, Colin C; Leipnitz, Elke E; Kirsch, Matthias M; Schackert, Gabriele G; Pearson, Danita D; Devadass, Abel A; Ram, Zvi Z; Collins, V Peter VP; Allinson, Kieren K; Jenkinson, Michael D MD; Zakaria, Rasheed R; Syed, Khaja K; Hanemann, C Oliver CO; Dunn, Jemma J; McDermott, Michael W MW; Kirollos, Ramez W RW; Vassiliou, George S GS; Esteller, Manel M; Behjati, Sam S; Brazma, Alvis A; Santarius, Thomas T; McDermott, Ultan U
Somatic POLE exonuclease domain mutations are early events in sporadic endometrial and colorectal carcinogenesis, determining driver mutational landscape, clonal neoantigen burden and immune response.
The Journal Of Pathology
Temko, Daniel D; Van Gool, Inge C IC; Rayner, Emily E; Glaire, Mark M; Makino, Seiko S; Brown, Matthew M; Chegwidden, Laura L; Palles, Claire C; Depreeuw, Jeroen J; Beggs, Andrew A; Stathopoulou, Chaido C; Mason, John J; Baker, Ann-Marie AM; Williams, Marc M; Cerundolo, Vincenzo V; Rei, Margarida M; Taylor, Jenny C JC; Schuh, Anna A; Ahmed, Ahmed A; Amant, Frédéric F; Lambrechts, Diether D; Smit, Vincent Thbm VT; Bosse, Tjalling T; Graham, Trevor A TA; Church, David N DN; Tomlinson, Ian I
A Landscape of Pharmacogenomic Interactions in Cancer.
Cell
Iorio, Francesco F; Knijnenburg, Theo A TA; Vis, Daniel J DJ; Bignell, Graham R GR; Menden, Michael P MP; Schubert, Michael M; Aben, Nanne N; Gonçalves, Emanuel E; Barthorpe, Syd S; Lightfoot, Howard H; Cokelaer, Thomas T; Greninger, Patricia P; van Dyk, Ewald E; Chang, Han H; de Silva, Heshani H; Heyn, Holger H; Deng, Xianming X; Egan, Regina K RK; Liu, Qingsong Q; Mironenko, Tatiana T; Mitropoulos, Xeni X; Richardson, Laura L; Wang, Jinhua J; Zhang, Tinghu T; Moran, Sebastian S; Sayols, Sergi S; Soleimani, Maryam M; Tamborero, David D; Lopez-Bigas, Nuria N; Ross-Macdonald, Petra P; Esteller, Manel M; Gray, Nathanael S NS; Haber, Daniel A DA; Stratton, Michael R MR; Benes, Cyril H CH; Wessels, Lodewyk F A LFA; Saez-Rodriguez, Julio J; McDermott, Ultan U; Garnett, Mathew J MJ
Genomic Correlates of Immune-Cell Infiltrates in Colorectal Carcinoma.
Cell Reports
Giannakis, Marios M; Mu, Xinmeng Jasmine XJ; Shukla, Sachet A SA; Qian, Zhi Rong ZR; Cohen, Ofir O; Nishihara, Reiko R; Bahl, Samira S; Cao, Yin Y; Amin-Mansour, Ali A; Yamauchi, Mai M; Sukawa, Yasutaka Y; Stewart, Chip C; Rosenberg, Mara M; Mima, Kosuke K; Inamura, Kentaro K; Nosho, Katsuhiko K; Nowak, Jonathan A JA; Lawrence, Michael S MS; Giovannucci, Edward L EL; Chan, Andrew T AT; Ng, Kimmie K; Meyerhardt, Jeffrey A JA; Van Allen, Eliezer M EM; Getz, Gad G; Gabriel, Stacey B SB; Lander, Eric S ES; Wu, Catherine J CJ; Fuchs, Charles S CS; Ogino, Shuji S; Garraway, Levi A LA
Genomic and epigenomic analysis of high-risk prostate cancer reveals changes in hydroxymethylation and TET1.
Oncotarget
Spans, Lien L; Van den Broeck, Thomas T; Smeets, Elien E; Prekovic, Stefan S; Thienpont, Bernard B; Lambrechts, Diether D; Karnes, R Jeffrey RJ; Erho, Nicholas N; Alshalalfa, Mohammed M; Davicioni, Elai E; Helsen, Christine C; Gevaert, Thomas T; Tosco, Lorenzo L; Haustermans, Karin K; Lerut, Evelyne E; Joniau, Steven S; Claessens, Frank F
Cerebrospinal fluid-derived circulating tumour DNA better represents the genomic alterations of brain tumours than plasma.
Nature Communications
De Mattos-Arruda, Leticia L; Mayor, Regina R; Ng, Charlotte K Y CKY; Weigelt, Britta B; Martínez-Ricarte, Francisco F; Torrejon, Davis D; Oliveira, Mafalda M; Arias, Alexandra A; Raventos, Carolina C; Tang, Jiabin J; Guerini-Rocco, Elena E; Martínez-Sáez, Elena E; Lois, Sergio S; Marín, Oscar O; de la Cruz, Xavier X; Piscuoglio, Salvatore S; Towers, Russel R; Vivancos, Ana A; Peg, Vicente V; Ramon y Cajal, Santiago S; Carles, Joan J; Rodon, Jordi J; González-Cao, María M; Tabernero, Josep J; Felip, Enriqueta E; Sahuquillo, Joan J; Berger, Michael F MF; Cortes, Javier J; Reis-Filho, Jorge S JS; Seoane, Joan J
Age-related mutations associated with clonal hematopoietic expansion and malignancies.
Nature Medicine
Xie, Mingchao M; Lu, Charles C; Wang, Jiayin J; McLellan, Michael D MD; Johnson, Kimberly J KJ; Wendl, Michael C MC; McMichael, Joshua F JF; Schmidt, Heather K HK; Yellapantula, Venkata V; Miller, Christopher A CA; Ozenberger, Bradley A BA; Welch, John S JS; Link, Daniel C DC; Walter, Matthew J MJ; Mardis, Elaine R ER; Dipersio, John F JF; Chen, Feng F; Wilson, Richard K RK; Ley, Timothy J TJ; Ding, Li L
DNA polymerase ε and δ exonuclease domain mutations in endometrial cancer.
Human Molecular Genetics
Church, David N DN; Briggs, Sarah E W SE; Palles, Claire C; Domingo, Enric E; Kearsey, Stephen J SJ; Grimes, Jonathon M JM; Gorman, Maggie M; Martin, Lynn L; Howarth, Kimberley M KM; Hodgson, Shirley V SV; , ; Kaur, Kulvinder K; Taylor, Jenny J; Tomlinson, Ian P M IP