Assessing variants of uncertain significance implicated in hearing loss using a comprehensive deafness proteome.
Human Genetics
Tollefson, Mallory R MR; Gogal, Rose A RA; Weaver, A Monique AM; Schaefer, Amanda M AM; Marini, Robert J RJ; Azaiez, Hela H; Kolbe, Diana L DL; Wang, Donghong D; Weaver, Amy E AE; Casavant, Thomas L TL; Braun, Terry A TA; Smith, Richard J H RJH; Schnieders, Michael J MJ
Publication Date: 2023-04-22
Variant appearance in text: FGFR2: 1647T>A; Asn549Lys
Tissue and liquid biopsy profiling reveal convergent tumor evolution and therapy evasion in breast cancer.
Nature Communications
Sivakumar, Smruthy S; Jin, Dexter X DX; Tukachinsky, Hanna H; Murugesan, Karthikeyan K; McGregor, Kimberly K; Danziger, Natalie N; Pavlick, Dean D; Gjoerup, Ole O; Ross, Jeffrey S JS; Harmon, Robert R; Chung, Jon J; Decker, Brennan B; Dennis, Lucas L; Frampton, Garrett M GM; Molinero, Luciana L; Oesterreich, Steffi S; Venstrom, Jeffrey M JM; Oxnard, Geoffrey R GR; Hegde, Priti S PS; Sokol, Ethan S ES
Comparative kinase and cancer cell panel profiling of kinase inhibitors approved for clinical use from 2018 to 2020.
Frontiers In Oncology
Kooijman, Jeffrey J JJ; van Riel, Wilhelmina E WE; Dylus, Jelle J; Prinsen, Martine B W MBW; Grobben, Yvonne Y; de Bitter, Tessa J J TJJ; van Doornmalen, Antoon M AM; Melis, Janneke J T M JJTM; Uitdehaag, Joost C M JCM; Narumi, Yugo Y; Kawase, Yusuke Y; de Roos, Jeroen A D M JADM; Willemsen-Seegers, Nicole N; Zaman, Guido J R GJR
Truncated FGFR2 is a clinically actionable oncogene in multiple cancers.
Nature
Zingg, Daniel D; Bhin, Jinhyuk J; Yemelyanenko, Julia J; Kas, Sjors M SM; Rolfs, Frank F; Lutz, Catrin C; Lee, Jessica K JK; Klarenbeek, Sjoerd S; Silverman, Ian M IM; Annunziato, Stefano S; Chan, Chang S CS; Piersma, Sander R SR; Eijkman, Timo T; Badoux, Madelon M; Gogola, Ewa E; Siteur, Bjørn B; Sprengers, Justin J; de Klein, Bim B; de Goeij-de Haas, Richard R RR; Riedlinger, Gregory M GM; Ke, Hua H; Madison, Russell R; Drenth, Anne Paulien AP; van der Burg, Eline E; Schut, Eva E; Henneman, Linda L; van Miltenburg, Martine H MH; Proost, Natalie N; Zhen, Huiling H; Wientjens, Ellen E; de Bruijn, Roebi R; de Ruiter, Julian R JR; Boon, Ute U; de Korte-Grimmerink, Renske R; van Gerwen, Bastiaan B; Féliz, Luis L; Abou-Alfa, Ghassan K GK; Ross, Jeffrey S JS; van de Ven, Marieke M; Rottenberg, Sven S; Cuppen, Edwin E; Chessex, Anne Vaslin AV; Ali, Siraj M SM; Burn, Timothy C TC; Jimenez, Connie R CR; Ganesan, Shridar S; Wessels, Lodewyk F A LFA; Jonkers, Jos J
A multicenter investigator-initiated Phase 2 trial of E7090 in patients with advanced or recurrent solid tumor with fibroblast growth factor receptor (FGFR) gene alteration: FORTUNE trial.
Scalable multiplex co-fractionation/mass spectrometry platform for accelerated protein interactome discovery.
Nature Communications
Havugimana, Pierre C PC; Goel, Raghuveera Kumar RK; Phanse, Sadhna S; Youssef, Ahmed A; Padhorny, Dzmitry D; Kotelnikov, Sergei S; Kozakov, Dima D; Emili, Andrew A
Publication Date: 2022-07-13
Variant appearance in text: FGFR2: 1647T>A; N549K; rs121913476
Clinical genomic profiling in the management of patients with soft tissue and bone sarcoma.
Nature Communications
Gounder, Mrinal M MM; Agaram, Narasimhan P NP; Trabucco, Sally E SE; Robinson, Victoria V; Ferraro, Richard A RA; Millis, Sherri Z SZ; Krishnan, Anita A; Lee, Jessica J; Attia, Steven S; Abida, Wassim W; Drilon, Alexander A; Chi, Ping P; Angelo, Sandra P D' SP; Dickson, Mark A MA; Keohan, Mary Lou ML; Kelly, Ciara M CM; Agulnik, Mark M; Chawla, Sant P SP; Choy, Edwin E; Chugh, Rashmi R; Meyer, Christian F CF; Myer, Parvathi A PA; Moore, Jessica L JL; Okimoto, Ross A RA; Pollock, Raphael E RE; Ravi, Vinod V; Singh, Arun S AS; Somaiah, Neeta N; Wagner, Andrew J AJ; Healey, John H JH; Frampton, Garrett M GM; Venstrom, Jeffrey M JM; Ross, Jeffrey S JS; Ladanyi, Marc M; Singer, Samuel S; Brennan, Murray F MF; Schwartz, Gary K GK; Lazar, Alexander J AJ; Thomas, David M DM; Maki, Robert G RG; Tap, William D WD; Ali, Siraj M SM; Jin, Dexter X DX
Combined exome and transcriptome sequencing of non-muscle-invasive bladder cancer: associations between genomic changes, expression subtypes, and clinical outcomes.
Genome Medicine
Goel, Anshita A; Ward, Douglas G DG; Noyvert, Boris B; Yu, Minghao M; Gordon, Naheema S NS; Abbotts, Ben B; Colbourne, John K JK; Kissane, Stephen S; James, Nicholas D ND; Zeegers, Maurice P MP; Cheng, Kar Keung KK; Cazier, Jean-Baptiste JB; Whalley, Celina M CM; Beggs, Andrew D AD; Palles, Claire C; Arnold, Roland R; Bryan, Richard T RT
Molecular landscape of TP53 mutations in breast cancer and their utility for predicting the response to HER-targeted therapy in HER2 amplification-positive and HER2 mutation-positive amplification-negative patients.
FGFR2/3 genomic alterations and response to Enfortumab Vedotin in metastatic urothelial carcinoma.
Bjui Compass
Adib, Elio E; El Zarif, Talal T; Jain, Rohit K RK; Skelton, William P WP; Freeman, Dory D; Curran, Catherine C; Akl, Elie E; Nassar, Amin H AH; Ravi, Praful P; Mantia, Charlene C; Kwiatkowski, David J DJ; Choueiri, Toni K TK; Sonpavde, Guru G
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
Serial monitoring of genomic alterations in circulating tumor cells of ER-positive/HER2-negative advanced breast cancer: feasibility of precision oncology biomarker detection.
Molecular Oncology
Cani, Andi K AK; Dolce, Emily M EM; Darga, Elizabeth P EP; Hu, Kevin K; Liu, Chia-Jen CJ; Pierce, Jackie J; Bradbury, Kieran K; Kilgour, Elaine E; Aung, Kimberly K; Schiavon, Gaia G; Carroll, Danielle D; Carr, T Hedley TH; Klinowska, Teresa T; Lindemann, Justin J; Marshall, Gayle G; Rowlands, Vicky V; Harrington, Elizabeth A EA; Barrett, J Carl JC; Sathiyayogan, Nitharsan N; Morrow, Christopher C; Sero, Valeria V; Armstrong, Anne C AC; Baird, Richard R; Hamilton, Erika E; Im, Seock-Ah SA; Jhaveri, Komal K; Patel, Manish R MR; Dive, Caroline C; Tomlins, Scott A SA; Udager, Aaron M AM; Hayes, Daniel F DF; Paoletti, Costanza C
Rearrangement-mediated cis-regulatory alterations in advanced patient tumors reveal interactions with therapy.
Cell Reports
Zhang, Yiqun Y; Chen, Fengju F; Pleasance, Erin E; Williamson, Laura L; Grisdale, Cameron J CJ; Titmuss, Emma E; Laskin, Janessa J; Jones, Steven J M SJM; Cortes-Ciriano, Isidro I; Marra, Marco A MA; Creighton, Chad J CJ
Publication Date: 2021-11-16
Variant appearance in text: FGFR2: 1647T>A; Asn549Lys
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
Novel Pharmacological Options in the Treatment of Cholangiocarcinoma: Mechanisms of Resistance.
Cancers
Marin, Jose J G JJG; Sanchon-Sanchez, Paula P; Cives-Losada, Candela C; Del Carmen, Sofía S; González-Santiago, Jesús M JM; Monte, Maria J MJ; Macias, Rocio I R RIR
Cell-free DNA captures tumor heterogeneity and driver alterations in rapid autopsies with pre-treated metastatic cancer.
Nature Communications
Pereira, Bernard B; Chen, Christopher T CT; Goyal, Lipika L; Walmsley, Charlotte C; Pinto, Christopher J CJ; Baiev, Islam I; Allen, Read R; Henderson, Laura L; Saha, Supriya S; Reyes, Stephanie S; Taylor, Martin S MS; Fitzgerald, Donna M DM; Broudo, Maida Williams MW; Sahu, Avinash A; Gao, Xin X; Winckler, Wendy W; Brannon, A Rose AR; Engelman, Jeffrey A JA; Leary, Rebecca R; Stone, James R JR; Campbell, Catarina D CD; Juric, Dejan D
Comprehensive omic characterization of breast cancer in Mexican-Hispanic women.
Nature Communications
Romero-Cordoba, Sandra L SL; Salido-Guadarrama, Ivan I; Rebollar-Vega, Rosa R; Bautista-Piña, Veronica V; Dominguez-Reyes, Carlos C; Tenorio-Torres, Alberto A; Villegas-Carlos, Felipe F; Fernández-López, Juan C JC; Uribe-Figueroa, Laura L; Alfaro-Ruiz, Luis L; Hidalgo-Miranda, Alfredo A
Assessment of Clinical Benefit of Integrative Genomic Profiling in Advanced Solid Tumors.
Jama Oncology
Cobain, Erin F EF; Wu, Yi-Mi YM; Vats, Pankaj P; Chugh, Rashmi R; Worden, Francis F; Smith, David C DC; Schuetze, Scott M SM; Zalupski, Mark M MM; Sahai, Vaibhav V; Alva, Ajjai A; Schott, Anne F AF; Caram, Megan E V MEV; Hayes, Daniel F DF; Stoffel, Elena M EM; Jacobs, Michelle F MF; Kumar-Sinha, Chandan C; Cao, Xuhong X; Wang, Rui R; Lucas, David D; Ning, Yu Y; Rabban, Erica E; Bell, Janice J; Camelo-Piragua, Sandra S; Udager, Aaron M AM; Cieslik, Marcin M; Lonigro, Robert J RJ; Kunju, Lakshmi P LP; Robinson, Dan R DR; Talpaz, Moshe M; Chinnaiyan, Arul M AM
Predictive Biomarkers for Immune Checkpoint Inhibitors in Metastatic Breast Cancer.
Cancer Medicine
Sivapiragasam, Abirami A; Ashok Kumar, Prashanth P; Sokol, Ethan S ES; Albacker, Lee A LA; Killian, Jonathan K JK; Ramkissoon, Shakti H SH; Huang, Richard S P RSP; Severson, Eric A EA; Brown, Charlotte A CA; Danziger, Natalie N; McGregor, Kimberly K; Ross, Jeffrey S JS