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: 1789C>G; Leu597Val
Integrated gene analyses of de novo variants from 46,612 trios with autism and developmental disorders.
Proceedings Of The National Academy Of Sciences Of The United States Of America
Wang, Tianyun T; Kim, Chang N CN; Bakken, Trygve E TE; Gillentine, Madelyn A MA; Henning, Barbara B; Mao, Yafei Y; Gilissen, Christian C; , ; Nowakowski, Tomasz J TJ; Eichler, Evan E EE
Publication Date: 2022-11-15
Variant appearance in text: BRAF: 1789C>G; Leu597Val
Uterine lavage identifies cancer mutations and increased TP53 somatic mutation burden in individuals with ovarian cancer.
Cancer Research Communications
Ghezelayagh, Talayeh S TS; Kohrn, Brendan F BF; Fredrickson, Jeanne J; Manhardt, Enna E; Radke, Marc R MR; Katz, Ronit R; Gray, Heidi J HJ; Urban, Renata R RR; Pennington, Kathryn P KP; Liao, John B JB; Doll, Kemi M KM; Simons, Elise J EJ; Burzawa, Jennifer K JK; Goff, Barbara A BA; Speiser, Paul P; Swisher, Elizabeth M EM; Norquist, Barbara M BM; Risques, Rosa Ana RA
Integrating de novo and inherited variants in 42,607 autism cases identifies mutations in new moderate-risk genes.
Nature Genetics
Zhou, Xueya X; Feliciano, Pamela P; Shu, Chang C; Wang, Tianyun T; Astrovskaya, Irina I; Hall, Jacob B JB; Obiajulu, Joseph U JU; Wright, Jessica R JR; Murali, Shwetha C SC; Xu, Simon Xuming SX; Brueggeman, Leo L; Thomas, Taylor R TR; Marchenko, Olena O; Fleisch, Christopher C; Barns, Sarah D SD; Snyder, LeeAnne Green LG; Han, Bing B; Chang, Timothy S TS; Turner, Tychele N TN; Harvey, William T WT; Nishida, Andrew A; O'Roak, Brian J BJ; Geschwind, Daniel H DH; , ; Michaelson, Jacob J JJ; Volfovsky, Natalia N; Eichler, Evan E EE; Shen, Yufeng Y; Chung, Wendy K WK
Genome-wide analyses of 200,453 individuals yield new insights into the causes and consequences of clonal hematopoiesis.
Nature Genetics
Kar, Siddhartha P SP; Quiros, Pedro M PM; Gu, Muxin M; Jiang, Tao T; Mitchell, Jonathan J; Langdon, Ryan R; Iyer, Vivek V; Barcena, Clea C; Vijayabaskar, M S MS; Fabre, Margarete A MA; Carter, Paul P; Petrovski, Slavé S; Burgess, Stephen S; Vassiliou, George S GS
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: 1789C>G; Leu597Val
Molecular characterization of Kita-Kyushu lung cancer antigen (KK-LC-1) expressing carcinomas.
Oncotarget
Hsu, Robert R; Baca, Yasmine Y; Xiu, Joanne J; Wang, Rongfu R; Bodor, J Nicholas JN; Kim, Chul C; Khan, Hina H; Mamdani, Hirva H; Nagasaka, Misako M; Puri, Sonam S; Liu, Stephen V SV; Korn, W Michael WM; Nieva, Jorge J JJ
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: 1789C>G; Leu597Val
Targeted Therapy of Papillary Thyroid Cancer: A Comprehensive Genomic Analysis.
Frontiers In Endocrinology
Hescheler, Daniel A DA; Riemann, Burkhard B; Hartmann, Milan J M MJM; Michel, Maximilian M; Faust, Michael M; Bruns, Christiane J CJ; Alakus, Hakan H; Chiapponi, Costanza C
Comparison of two targeted ultra-deep sequencing technologies for analysis of plasma circulating tumour DNA in endocrine-therapy-resistant breast cancer patients.
Breast Cancer Research And Treatment
Nteliopoulos, Georgios G; Page, Karen K; Hills, Allison A; Howarth, Karen K; Emmett, Warren W; Green, Emma E; Martinson, Luke J LJ; Fernadez-Garcia, Daniel D; Hastings, Robert R; Guttery, David S DS; Kenny, Laura L; Stebbing, Justin J; Cleator, Susan S; Rehman, Farah F; Gleason, Kelly L T KLT; Sanela, Andrijac A; Ion, Charlotte C; Rushton, Amelia J AJ; Rosenfeld, Nitzan N; Coombes, R Charles RC; Shaw, Jacqueline A JA
Defining the Criteria for Reflex Testing for BRAF Mutations in Cutaneous Melanoma Patients.
Cancers
Zhou, Sarah S; Sikorski, Daniel D; Xu, Honghao H; Zubarev, Andrei A; Chergui, May M; Lagacé, François F; Miller, Wilson H WH; Redpath, Margaret M; Ghazal, Stephanie S; Butler, Marcus O MO; Petrella, Teresa M TM; Claveau, Joël J; Nessim, Carolyn C; Salopek, Thomas G TG; Gniadecki, Robert R; Litvinov, Ivan V IV
Spatially interacting phosphorylation sites and mutations in cancer.
Nature Communications
Huang, Kuan-Lin KL; Scott, Adam D AD; Zhou, Daniel Cui DC; Wang, Liang-Bo LB; Weerasinghe, Amila A; Elmas, Abdulkadir A; Liu, Ruiyang R; Wu, Yige Y; Wendl, Michael C MC; Wyczalkowski, Matthew A MA; Baral, Jessika J; Sengupta, Sohini S; Lai, Chin-Wen CW; Ruggles, Kelly K; Payne, Samuel H SH; Raphael, Benjamin B; Fenyö, David D; Chen, Ken K; Mills, Gordon G; Ding, Li L
Assessment of RAS Dependency for BRAF Alterations Using Cancer Genomic Databases.
Jama Network Open
Zhao, Yiqing Y; Yu, Hanzhong H; Ida, Cris M CM; Halling, Kevin C KC; Kipp, Benjamin R BR; Geiersbach, Katherine K; Rumilla, Kandelaria M KM; Gupta, Sounak S; Lin, Ming-Tseh MT; Zheng, Gang G
Molecular and Immune Biomarkers for Cutaneous Melanoma: Current Status and Future Prospects.
Cancers
Pilla, Lorenzo L; Alberti, Andrea A; Di Mauro, Pierluigi P; Gemelli, Maria M; Cogliati, Viola V; Cazzaniga, Marina Elena ME; Bidoli, Paolo P; Maccalli, Cristina C
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
Mutation-oriented profiling of autoinhibitory kinase conformations predicts RAF inhibitor efficacies.
Proceedings Of The National Academy Of Sciences Of The United States Of America
Mayrhofer, Johanna E JE; Enzler, Florian F; Feichtner, Andreas A; Röck, Ruth R; Fleischmann, Jakob J; Raffeiner, Andrea A; Tschaikner, Philipp P; Ogris, Egon E; Huber, Roland G RG; Hartl, Markus M; Schneider, Rainer R; Troppmair, Jakob J; Torres-Quesada, Omar O; Stefan, Eduard E
Multiomics profiling of primary lung cancers and distant metastases reveals immunosuppression as a common characteristic of tumor cells with metastatic plasticity.
Genome Biology
Lee, Won-Chul WC; Reuben, Alexandre A; Hu, Xin X; McGranahan, Nicholas N; Chen, Runzhe R; Jalali, Ali A; Negrao, Marcelo V MV; Hubert, Shawna M SM; Tang, Chad C; Wu, Chia-Chin CC; Lucas, Anthony San AS; Roh, Whijae W; Suda, Kenichi K; Kim, Jihye J; Tan, Aik-Choon AC; Peng, David H DH; Lu, Wei W; Tang, Ximing X; Chow, Chi-Wan CW; Fujimoto, Junya J; Behrens, Carmen C; Kalhor, Neda N; Fukumura, Kazutaka K; Coyle, Marcus M; Thornton, Rebecca R; Gumbs, Curtis C; Li, Jun J; Wu, Chang-Jiun CJ; Little, Latasha L; Roarty, Emily E; Song, Xingzhi X; Lee, J Jack JJ; Sulman, Erik P EP; Rao, Ganesh G; Swisher, Stephen S; Diao, Lixia L; Wang, Jing J; Heymach, John V JV; Huse, Jason T JT; Scheet, Paul P; Wistuba, Ignacio I II; Gibbons, Don L DL; Futreal, P Andrew PA; Zhang, Jianhua J; Gomez, Daniel D; Zhang, Jianjun J
BRAF in Lung Cancers: Analysis of Patient Cases Reveals Recurrent BRAF Mutations, Fusions, Kinase Duplications, and Concurrent Alterations.
Jco Precision Oncology
Sheikine, Yuri Y; Pavlick, Dean D; Klempner, Samuel J SJ; Trabucco, Sally E SE; Chung, Jon H JH; Rosenzweig, Mark M; Wang, Kai K; Velcheti, Vamsidhar V; Frampton, Garrett M GM; Peled, Nir N; Murray, Molly M; Chae, Young Kwang YK; Albacker, Lee A LA; Gay, Laurie L; Husain, Hatim H; Suh, James H JH; Millis, Sherri Z SZ; Reddy, Venkataprasanth P VP; Elvin, Julia A JA; Hartmaier, Ryan J RJ; Dowlati, Afshin A; Stephens, Phil P; Ross, Jeffrey S JS; Bivona, Trever G TG; Miller, Vincent A VA; Ganesan, Shridar S; Schrock, Alexa B AB; Ou, Sai-Hong Ignatius SI; Ali, Siraj M SM
Functional characterization of a PROTAC directed against BRAF mutant V600E.
Nature Chemical Biology
Posternak, Ganna G; Tang, Xiaojing X; Maisonneuve, Pierre P; Jin, Ting T; Lavoie, Hugo H; Daou, Salima S; Orlicky, Stephen S; Goullet de Rugy, Theo T; Caldwell, Lauren L; Chan, Kin K; Aman, Ahmed A; Prakesch, Michael M; Poda, Gennady G; Mader, Pavel P; Wong, Cassandra C; Maier, Stefan S; Kitaygorodsky, Julia J; Larsen, Brett B; Colwill, Karen K; Yin, Zhe Z; Ceccarelli, Derek F DF; Batey, Robert A RA; Taipale, Mikko M; Kurinov, Igor I; Uehling, David D; Wrana, Jeff J; Durocher, Daniel D; Gingras, Anne-Claude AC; Al-Awar, Rima R; Therrien, Marc M; Sicheri, Frank F
Molecular Basis for Ser/Thr Specificity in PKA Signaling.
Cells
Knape, Matthias J MJ; Wallbott, Maximilian M; Burghardt, Nicole C G NCG; Bertinetti, Daniela D; Hornung, Jan J; Schmidt, Sven H SH; Lorenz, Robin R; Herberg, Friedrich W FW
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
Molecular Landscape of BRAF-Mutant NSCLC Reveals an Association Between Clonality and Driver Mutations and Identifies Targetable Non-V600 Driver Mutations.
Journal Of Thoracic Oncology : Official Publication Of The International Association For The Study Of Lung Cancer
Negrao, Marcelo V MV; Raymond, Victoria M VM; Lanman, Richard B RB; Robichaux, Jacqulyne P JP; He, Junqin J; Nilsson, Monique B MB; Ng, Patrick K S PKS; Amador, Bianca E BE; Roarty, Emily B EB; Nagy, Rebecca J RJ; Banks, Kimberly C KC; Zhu, Viola W VW; Ng, Chun C; Chae, Young Kwang YK; Clarke, Jeffrey M JM; Crawford, Jeffrey A JA; Meric-Bernstam, Funda F; Ignatius Ou, Sai-Hong SH; Gandara, David R DR; Heymach, John V JV; Bivona, Trever G TG; McCoach, Caroline E CE
Tumor Location Is Associated With the Prevalence of Braf And Pik3ca Mutations in Patients with Wild-Type Ras Colorectal Cancer: A Prospective Multi-Center Cohort Study in Japan.
Identification of targeted therapy options for gastric adenocarcinoma by comprehensive analysis of genomic data.
Gastric Cancer : Official Journal Of The International Gastric Cancer Association And The Japanese Gastric Cancer Association
Hescheler, Daniel A DA; Plum, Patrick S PS; Zander, Thomas T; Quaas, Alexander A; Korenkov, Michael M; Gassa, Asmae A; Michel, Maximilian M; Bruns, Christiane J CJ; Alakus, Hakan H
Rare, functional, somatic variants in gene families linked to cancer genes: GPCR signaling as a paradigm.
Oncogene
Raimondi, Francesco F; Inoue, Asuka A; Kadji, Francois M N FMN; Shuai, Ni N; Gonzalez, Juan-Carlos JC; Singh, Gurdeep G; de la Vega, Alicia Alonso AA; Sotillo, Rocio R; Fischer, Bernd B; Aoki, Junken J; Gutkind, J Silvio JS; Russell, Robert B RB