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
Observational study of population genomic screening for variants associated with endocrine tumor syndromes in a large, healthcare-based cohort.
Bmc Medicine
Savatt, Juliann M JM; Ortiz, Nicole M NM; Thone, Gretchen M GM; McDonald, Whitney S WS; Kelly, Melissa A MA; Berry, Alexander S F ASF; Alvi, Madiha M MM; Hallquist, Miranda L G MLG; Malinowski, Jennifer J; Purdy, Nicholas C NC; Williams, Marc S MS; Sturm, Amy C AC; Buchanan, Adam H AH
Publication Date: 2022-06-07
Variant appearance in text: RET: 1998G>T; Lys666Asn
The evolution of RET inhibitor resistance in RET-driven lung and thyroid cancers.
Nature Communications
Rosen, Ezra Y EY; Won, Helen H HH; Zheng, Youyun Y; Cocco, Emiliano E; Selcuklu, Duygu D; Gong, Yixiao Y; Friedman, Noah D ND; de Bruijn, Ino I; Sumer, Onur O; Bielski, Craig M CM; Savin, Casey C; Bourque, Caitlin C; Falcon, Christina C; Clarke, Nikeysha N; Jing, Xiaohong X; Meng, Fanli F; Zimel, Catherine C; Shifman, Sophie S; Kittane, Srushti S; Wu, Fan F; Ladanyi, Marc M; Ebata, Kevin K; Kherani, Jennifer J; Brandhuber, Barbara J BJ; Fagin, James J; Sherman, Eric J EJ; Rekhtman, Natasha N; Berger, Michael F MF; Scaltriti, Maurizio M; Hyman, David M DM; Taylor, Barry S BS; Drilon, Alexander A
Tumor Mutation Burden, Expressed Neoantigens and the Immune Microenvironment in Diffuse Gliomas.
Cancers
Yu, Guangyang G; Pang, Ying Y; Merchant, Mythili M; Kesserwan, Chimene C; Gangalapudi, Vineela V; Abdelmaksoud, Abdalla A; Ranjan, Alice A; Kim, Olga O; Wei, Jun S JS; Chou, Hsien-Chao HC; Wen, Xinyu X; Sindiri, Sivasish S; Song, Young K YK; Xi, Liqiang L; Kaplan, Rosandra N RN; Armstrong, Terri S TS; Gilbert, Mark R MR; Aldape, Kenneth K; Khan, Javed J; Wu, Jing J
Tumor Mutation Burden, Expressed Neoantigens and the Immune Microenvironment in Diffuse Gliomas.
Cancers
Yu, Guangyang G; Pang, Ying Y; Merchant, Mythili M; Kesserwan, Chimene C; Gangalapudi, Vineela V; Abdelmaksoud, Abdalla A; Ranjan, Alice A; Kim, Olga O; Wei, Jun S JS; Chou, Hsien-Chao HC; Wen, Xinyu X; Sindiri, Sivasish S; Song, Young K YK; Xi, Liqiang L; Kaplan, Rosandra N RN; Armstrong, Terri S TS; Gilbert, Mark R MR; Aldape, Kenneth K; Khan, Javed J; Wu, Jing J
Physician-directed genetic screening to evaluate personal risk for medically actionable disorders: a large multi-center cohort study.
Bmc Medicine
Haverfield, Eden V EV; Esplin, Edward D ED; Aguilar, Sienna J SJ; Hatchell, Kathryn E KE; Ormond, Kelly E KE; Hanson-Kahn, Andrea A; Atwal, Paldeep S PS; Macklin-Mantia, Sarah S; Hines, Stephanie S; Sak, Caron W-M CW; Tucker, Steven S; Bleyl, Steven B SB; Hulick, Peter J PJ; Gordon, Ora K OK; Velsher, Lea L; Gu, Jessica Y J JYJ; Weissman, Scott M SM; Kruisselbrink, Teresa T; Abel, Christopher C; Kettles, Michele M; Slavotinek, Anne A; Mendelsohn, Bryce A BA; Green, Robert C RC; Aradhya, Swaroop S; Nussbaum, Robert L RL
Publication Date: 2021-08-18
Variant appearance in text: RET: 1998G>T; Lys666Asn
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
REVEL and BayesDel outperform other in silico meta-predictors for clinical variant classification.
Scientific Reports
Tian, Yuan Y; Pesaran, Tina T; Chamberlin, Adam A; Fenwick, R Bryn RB; Li, Shuwei S; Gau, Chia-Ling CL; Chao, Elizabeth C EC; Lu, Hsiao-Mei HM; Black, Mary Helen MH; Qian, Dajun D
Medullary Thyroid Carcinoma Associated with Germline RETK666N Mutation.
Thyroid : Official Journal Of The American Thyroid Association
Xu, Jian Yu JY; Grubbs, Elizabeth G EG; Waguespack, Steven G SG; Jimenez, Camilo C; Gagel, Robert F RF; Sosa, Julie A JA; Sellin, Rena V RV; Dadu, Ramona R; Hu, Mimi I MI; Trotter, Chardria S CS; Jackson, Michelle M; Rich, Thereasa A TA; Hyde, Samuel M SM; Sherman, Steven I SI; Cote, Gilbert J GJ
VarDict: a novel and versatile variant caller for next-generation sequencing in cancer research.
Nucleic Acids Research
Lai, Zhongwu Z; Markovets, Aleksandra A; Ahdesmaki, Miika M; Chapman, Brad B; Hofmann, Oliver O; McEwen, Robert R; Johnson, Justin J; Dougherty, Brian B; Barrett, J Carl JC; Dry, Jonathan R JR
Publication Date: 2016-06-20
Variant appearance in text: RET: 1998G>T; K666N; rs146646971
Integrated analysis of germline and somatic variants in ovarian cancer.
Nature Communications
Kanchi, Krishna L KL; Johnson, Kimberly J KJ; Lu, Charles C; McLellan, Michael D MD; Leiserson, Mark D M MD; Wendl, Michael C MC; Zhang, Qunyuan Q; Koboldt, Daniel C DC; Xie, Mingchao M; Kandoth, Cyriac C; McMichael, Joshua F JF; Wyczalkowski, Matthew A MA; Larson, David E DE; Schmidt, Heather K HK; Miller, Christopher A CA; Fulton, Robert S RS; Spellman, Paul T PT; Mardis, Elaine R ER; Druley, Todd E TE; Graubert, Timothy A TA; Goodfellow, Paul J PJ; Raphael, Benjamin J BJ; Wilson, Richard K RK; Ding, Li L