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: BRAF: 1457_1471del; Asn486_Pro490del
Novel preclinical gastroenteropancreatic neuroendocrine neoplasia models demonstrate the feasibility of mutation-based targeted therapy.
Cellular Oncology (Dordrecht)
Viol, Fabrice F; Sipos, Bence B; Fahl, Martina M; Clauditz, Till S TS; Amin, Tania T; Kriegs, Malte M; Nieser, Maike M; Izbicki, Jakob R JR; Huber, Samuel S; Lohse, Ansgar W AW; Schrader, Jörg J
Clinicogenomic associations in childhood Langerhans cell histiocytosis: an international cohort study.
Blood Advances
Kemps, Paul Geraeds PG; Zondag, Timo Ce TC; Arnardóttir, Helga Björk HB; Solleveld-Westerink, Nienke N; Borst, Jelske J; Steenwijk, Eline Christine EC; van Egmond, Demi D; Swennenhuis, Joost F JF; Stelloo, Ellen E; Trambusti, Irene I; Verdijk, Robert M RM; van Noesel, Carel Jm CJ; Cleven, Arjen Hg AH; Scheijde-Vermeulen, Marijn M; Koudijs, Marco J MJ; Krsková, Lenka L; Hawkins, Cynthia C; Egeler, Rudolph Maarten RM; Brok, Jesper J; von Bahr Greenwood, Tatiana T; Svojgr, Karel K; Beishuizen, Auke A; van Laar, Jan Am JA; Poetschger, Ulrike U; Hutter, Caroline C; Sieni, Elena E; Minkov, Milen M; Abla, Oussama O; van Wezel, Tom T; van den Bos, Cor C; van Halteren, Astrid G S AGS
Publication Date: 2022-09-09
Variant appearance in text: BRAF: 1457_1471del; N486_P490del
The genetic heterogeneity and drug resistance mechanisms of relapsed refractory multiple myeloma.
Nature Communications
Vo, Josh N JN; Wu, Yi-Mi YM; Mishler, Jeanmarie J; Hall, Sarah S; Mannan, Rahul R; Wang, Lisha L; Ning, Yu Y; Zhou, Jin J; Hopkins, Alexander C AC; Estill, James C JC; Chan, Wallace K B WKB; Yesil, Jennifer J; Cao, Xuhong X; Rao, Arvind A; Tsodikov, Alexander A; Talpaz, Moshe M; Cole, Craig E CE; Ye, Jing C JC; , ; Bergsagel, P Leif PL; Auclair, Daniel D; Cho, Hearn Jay HJ; Robinson, Dan R DR; Chinnaiyan, Arul M AM
Publication Date: 2022-06-29
Variant appearance in text: BRAF: 1457_1471delATGTGACAGCACCTA; Asn486_Pro490del
Construction and validation of an immunoediting-based optimized neoantigen load (ioTNL) model to predict the response and prognosis of immune checkpoint therapy in various cancers.
Custom multi‑tumor next‑generation sequencing panel for routine molecular diagnosis of solid tumors: Validation and results from three‑year clinical use.
International Journal Of Molecular Medicine
Chevrier, Sandy S; Brasselet, Astrid A; Carnet, Marion M; Chevriaux, Angélique A; Gibeaud, Anne A; Jourdain, Marine M; Mananet, Hugo H; Truntzer, Caroline C; Beltjens, Françoise F; Charon-Barra, Céline C; Arnould, Laurent L; Albuisson, Juliette J; Comte, Anthony A; Derangère, Valentin V; Goussot, Vincent V; Boidot, Romain R
Publication Date: 2022-05
Variant appearance in text: BRAF: 1457_1471delATGTGACAGCACCTA; Asn486_Pro490del
Low neoantigen expression and poor T-cell priming underlie early immune escape in colorectal cancer.
Nature Cancer
Westcott, Peter M K PMK; Sacks, Nathan J NJ; Schenkel, Jason M JM; Ely, Zackery A ZA; Smith, Olivia O; Hauck, Haley H; Jaeger, Alex M AM; Zhang, Daniel D; Backlund, Coralie M CM; Beytagh, Mary C MC; Patten, J J JJ; Elbashir, Ryan R; Eng, George G; Irvine, Darrell J DJ; Yilmaz, Omer H OH; Jacks, Tyler T
Publication Date: 2021-10
Variant appearance in text: BRAF: 1457_1471del; Asn486_Pro490del
Patient-derived tumor xenograft and organoid models established from resected pancreatic, duodenal and biliary cancers.
Scientific Reports
Pham, Nhu-An NA; Radulovich, Nikolina N; Ibrahimov, Emin E; Martins-Filho, Sebastiao N SN; Li, Quan Q; Pintilie, Melania M; Weiss, Jessica J; Raghavan, Vibha V; Cabanero, Michael M; Denroche, Robert E RE; Wilson, Julie M JM; Metran-Nascente, Cristiane C; Borgida, Ayelet A; Hutchinson, Shawn S; Dodd, Anna A; Begora, Michael M; Chadwick, Dianne D; Serra, Stefano S; Knox, Jennifer J JJ; Gallinger, Steven S; Hedley, David W DW; Muthuswamy, Lakshmi L; Tsao, Ming-Sound MS
Integrated molecular drivers coordinate biological and clinical states in melanoma.
Nature Genetics
Conway, Jake R JR; Dietlein, Felix F; Taylor-Weiner, Amaro A; AlDubayan, Saud S; Vokes, Natalie N; Keenan, Tanya T; Reardon, Brendan B; He, Meng Xiao MX; Margolis, Claire A CA; Weirather, Jason L JL; Haq, Rizwan R; Schilling, Bastian B; Stephen Hodi, F F; Schadendorf, Dirk D; Liu, David D; Van Allen, Eliezer M EM
Publication Date: 2020-12
Variant appearance in text: BRAF: 1457_1471delATGTGACAGCACCTA
Landscape of somatic single nucleotide variants and indels in colorectal cancer and impact on survival.
Nature Communications
Zaidi, Syed H SH; Harrison, Tabitha A TA; Phipps, Amanda I AI; Steinfelder, Robert R; Trinh, Quang M QM; Qu, Conghui C; Banbury, Barbara L BL; Georgeson, Peter P; Grasso, Catherine S CS; Giannakis, Marios M; Adams, Jeremy B JB; Alwers, Elizabeth E; Amitay, Efrat L EL; Barfield, Richard T RT; Berndt, Sonja I SI; Borozan, Ivan I; Brenner, Hermann H; Brezina, Stefanie S; Buchanan, Daniel D DD; Cao, Yin Y; Chan, Andrew T AT; Chang-Claude, Jenny J; Connolly, Charles M CM; Drew, David A DA; Farris, Alton Brad AB; Figueiredo, Jane C JC; French, Amy J AJ; Fuchs, Charles S CS; Garraway, Levi A LA; Gruber, Steve S; Guinter, Mark A MA; Hamilton, Stanley R SR; Harlid, Sophia S; Heisler, Lawrence E LE; Hidaka, Akihisa A; Hopper, John L JL; Huang, Wen-Yi WY; Huyghe, Jeroen R JR; Jenkins, Mark A MA; Krzyzanowski, Paul M PM; Lemire, Mathieu M; Lin, Yi Y; Luo, Xuemei X; Mardis, Elaine R ER; McPherson, John D JD; Miller, Jessica K JK; Moreno, Victor V; Mu, Xinmeng Jasmine XJ; Nishihara, Reiko R; Papadopoulos, Nickolas N; Pasternack, Danielle D; Quist, Michael J MJ; Rafikova, Adilya A; Reid, Emma E G EEG; Shinbrot, Eve E; Shirts, Brian H BH; Stein, Lincoln D LD; Teney, Cherie D CD; Timms, Lee L; Um, Caroline Y CY; Van Guelpen, Bethany B; Van Tassel, Megan M; Wang, Xiaolong X; Wheeler, David A DA; Yung, Christina K CK; Hsu, Li L; Ogino, Shuji S; Gsur, Andrea A; Newcomb, Polly A PA; Gallinger, Steven S; Hoffmeister, Michael M; Campbell, Peter T PT; Thibodeau, Stephen N SN; Sun, Wei W; Hudson, Thomas J TJ; Peters, Ulrike U
mTOR Signaling and SREBP Activity Increase FADS2 Expression and Can Activate Sapienate Biosynthesis.
Cell Reports
Triki, Mouna M; Rinaldi, Gianmarco G; Planque, Melanie M; Broekaert, Dorien D; Winkelkotte, Alina M AM; Maier, Carina R CR; Janaki Raman, Sudha S; Vandekeere, Anke A; Van Elsen, Joke J; Orth, Martin F MF; Grünewald, Thomas G P TGP; Schulze, Almut A; Fendt, Sarah-Maria SM
Activating mutations in CSF1R and additional receptor tyrosine kinases in histiocytic neoplasms.
Nature Medicine
Durham, Benjamin H BH; Lopez Rodrigo, Estibaliz E; Picarsic, Jennifer J; Abramson, David D; Rotemberg, Veronica V; De Munck, Steven S; Pannecoucke, Erwin E; Lu, Sydney X SX; Pastore, Alessandro A; Yoshimi, Akihide A; Mandelker, Diana D; Ceyhan-Birsoy, Ozge O; Ulaner, Gary A GA; Walsh, Michael M; Yabe, Mariko M; Petrova-Drus, Kseniya K; Arcila, Maria E ME; Ladanyi, Marc M; Solit, David B DB; Berger, Michael F MF; Hyman, David M DM; Lacouture, Mario E ME; Erickson, Caroline C; Saganty, Ruth R; Ki, Michelle M; Dunkel, Ira J IJ; Santa-María López, Vicente V; Mora, Jaume J; Haroche, Julien J; Emile, Jean-Francois JF; Decaux, Olivier O; Geissmann, Frederic F; Savvides, Savvas N SN; Drilon, Alexander A; Diamond, Eli L EL; Abdel-Wahab, Omar O
Publication Date: 2019-12
Variant appearance in text: BRAF: 1457_1471del; N486_P490del
Pan-cancer whole-genome analyses of metastatic solid tumours.
Nature
Priestley, Peter P; Baber, Jonathan J; Lolkema, Martijn P MP; Steeghs, Neeltje N; de Bruijn, Ewart E; Shale, Charles C; Duyvesteyn, Korneel K; Haidari, Susan S; van Hoeck, Arne A; Onstenk, Wendy W; Roepman, Paul P; Voda, Mircea M; Bloemendal, Haiko J HJ; Tjan-Heijnen, Vivianne C G VCG; van Herpen, Carla M L CML; Labots, Mariette M; Witteveen, Petronella O PO; Smit, Egbert F EF; Sleijfer, Stefan S; Voest, Emile E EE; Cuppen, Edwin E
Publication Date: 2019-11
Variant appearance in text: BRAF: Asn486_Pro490del
Identification of targetable BRAF ΔN486_P490 variant by whole-genome sequencing leading to dabrafenib-induced remission of a BRAF-mutant pancreatic adenocarcinoma.
Cold Spring Harbor Molecular Case Studies
Wrzeszczynski, Kazimierz O KO; Rahman, Sadia S; Frank, Mayu O MO; Arora, Kanika K; Shah, Minita M; Geiger, Heather H; Felice, Vanessa V; Manaa, Dina D; Dikoglu, Esra E; Khaira, Depinder D; Chimpiri, A Rao AR; Michelini, Vanessa V VV; Jobanputra, Vaidehi V; Darnell, Robert B RB; Powers, Scott S; Choi, Minsig M
Publication Date: 2019-12
Variant appearance in text: BRAF: 1457_1471delATGTGACAGCACCTA; Asn486_Pro490del
Community assessment to advance computational prediction of cancer drug combinations in a pharmacogenomic screen.
Nature Communications
Menden, Michael P MP; Wang, Dennis D; Mason, Mike J MJ; Szalai, Bence B; Bulusu, Krishna C KC; Guan, Yuanfang Y; Yu, Thomas T; Kang, Jaewoo J; Jeon, Minji M; Wolfinger, Russ R; Nguyen, Tin T; Zaslavskiy, Mikhail M; , ; Jang, In Sock IS; Ghazoui, Zara Z; Ahsen, Mehmet Eren ME; Vogel, Robert R; Neto, Elias Chaibub EC; Norman, Thea T; Tang, Eric K Y EKY; Garnett, Mathew J MJ; Veroli, Giovanni Y Di GYD; Fawell, Stephen S; Stolovitzky, Gustavo G; Guinney, Justin J; Dry, Jonathan R JR; Saez-Rodriguez, Julio J
Intraductal Papillary Mucinous Neoplasms Arise From Multiple Independent Clones, Each With Distinct Mutations.
Gastroenterology
Fischer, Catherine G CG; Beleva Guthrie, Violeta V; Braxton, Alicia M AM; Zheng, Lily L; Wang, Pei P; Song, Qianqian Q; Griffin, James F JF; Chianchiano, Peter E PE; Hosoda, Waki W; Niknafs, Noushin N; Springer, Simeon S; Dal Molin, Marco M; Masica, David D; Scharpf, Robert B RB; Thompson, Elizabeth D ED; He, Jin J; Wolfgang, Christopher L CL; Hruban, Ralph H RH; Roberts, Nicholas J NJ; Lennon, Anne Marie AM; Jiao, Yuchen Y; Karchin, Rachel R; Wood, Laura D LD
Real-time Genomic Characterization of Advanced Pancreatic Cancer to Enable Precision Medicine.
Cancer Discovery
Aguirre, Andrew J AJ; Nowak, Jonathan A JA; Camarda, Nicholas D ND; Moffitt, Richard A RA; Ghazani, Arezou A AA; Hazar-Rethinam, Mehlika M; Raghavan, Srivatsan S; Kim, Jaegil J; Brais, Lauren K LK; Ragon, Dorisanne D; Welch, Marisa W MW; Reilly, Emma E; McCabe, Devin D; Marini, Lori L; Anderka, Kristin K; Helvie, Karla K; Oliver, Nelly N; Babic, Ana A; Da Silva, Annacarolina A; Nadres, Brandon B; Van Seventer, Emily E EE; Shahzade, Heather A HA; St Pierre, Joseph P JP; Burke, Kelly P KP; Clancy, Thomas T; Cleary, James M JM; Doyle, Leona A LA; Jajoo, Kunal K; McCleary, Nadine J NJ; Meyerhardt, Jeffrey A JA; Murphy, Janet E JE; Ng, Kimmie K; Patel, Anuj K AK; Perez, Kimberly K; Rosenthal, Michael H MH; Rubinson, Douglas A DA; Ryou, Marvin M; Shapiro, Geoffrey I GI; Sicinska, Ewa E; Silverman, Stuart G SG; Nagy, Rebecca J RJ; Lanman, Richard B RB; Knoerzer, Deborah D; Welsch, Dean J DJ; Yurgelun, Matthew B MB; Fuchs, Charles S CS; Garraway, Levi A LA; Getz, Gad G; Hornick, Jason L JL; Johnson, Bruce E BE; Kulke, Matthew H MH; Mayer, Robert J RJ; Miller, Jeffrey W JW; Shyn, Paul B PB; Tuveson, David A DA; Wagle, Nikhil N; Yeh, Jen Jen JJ; Hahn, William C WC; Corcoran, Ryan B RB; Carter, Scott L SL; Wolpin, Brian M BM
Machine Learning Detects Pan-cancer Ras Pathway Activation in The Cancer Genome Atlas.
Cell Reports
Way, Gregory P GP; Sanchez-Vega, Francisco F; La, Konnor K; Armenia, Joshua J; Chatila, Walid K WK; Luna, Augustin A; Sander, Chris C; Cherniack, Andrew D AD; Mina, Marco M; Ciriello, Giovanni G; Schultz, Nikolaus N; , ; Sanchez, Yolanda Y; Greene, Casey S CS
Publication Date: 2018-04-03
Variant appearance in text: BRAF: 1457_1471delATGTGACAGCACCTA
Clinical impact of the subclonal architecture and mutational complexity in chronic lymphocytic leukemia.
Leukemia
Nadeu, F F; Clot, G G; Delgado, J J; Martín-García, D D; Baumann, T T; Salaverria, I I; Beà, S S; Pinyol, M M; Jares, P P; Navarro, A A; Suárez-Cisneros, H H; Aymerich, M M; Rozman, M M; Villamor, N N; Colomer, D D; González, M M; Alcoceba, M M; Terol, M J MJ; Navarro, B B; Colado, E E; Payer, Á R ÁR; Puente, X S XS; López-Otín, C C; López-Guillermo, A A; Enjuanes, A A; Campo, E E
Publication Date: 2018-03
Variant appearance in text: BRAF: 1457_1471delATGTGACAGCACCTA
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
Publication Date: 2016-07-28
Variant appearance in text: BRAF: 1457_1471del; N486_P490del