Pan-cancer molecular tumor board experience with biomarker-driven precision immunotherapy.
Npj Precision Oncology
Louie, Bryan H BH; Kato, Shumei S; Kim, Ki Hwan KH; Lim, Hyo Jeong HJ; Okamura, Ryosuke R; Eskander, Ramez N RN; Botta, Gregory G; Patel, Hitendra H; Lee, Suzanna S; Lippman, Scott M SM; Sicklick, Jason K JK; Kurzrock, Razelle R
A Case of Isolated Myeloid Sarcoma Associated With Germline EGFR T790M Variant: The Importance of Recognizing Potential Germline Variants on Somatic Tumor Sequencing Panels.
Journal Of Hematology
Walker, Margaret M; Folstad, Matthew M; Smith-Simmer, Kelcy K; Reinig, Erica E; Nadiminti, Kalyan K; Lovrien, Lauren L; Churpek, Jane E JE; Banaszak, Lauren G LG
An association test of the spatial distribution of rare missense variants within protein structures identifies Alzheimer's disease-related patterns.
Genome Research
Jin, Bowen B; Capra, John A JA; Benchek, Penelope P; Wheeler, Nicholas N; Naj, Adam C AC; Hamilton-Nelson, Kara L KL; Farrell, John J JJ; Leung, Yuk Yee YY; Kunkle, Brian B; Vadarajan, Badri B; Schellenberg, Gerard D GD; Mayeux, Richard R; Wang, Li-San LS; Farrer, Lindsay A LA; Pericak-Vance, Margaret A MA; Martin, Eden R ER; Haines, Jonathan L JL; Crawford, Dana C DC; Bush, William S WS
Germline RET Leu56Met Variant Is Likely Not Causative of Multiple Endocrine Neoplasia Type 2.
Frontiers In Endocrinology
Hansen, Anna Reimer AR; Borgwardt, Line L; Rasmussen, Åse Krogh ÅK; Godballe, Christian C; Poulsen, Morten Møller MM; Vieira, Filipe G FG; Mathiesen, Jes Sloth JS; Rossing, Maria M
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
The MURAL collection of prostate cancer patient-derived xenografts enables discovery through preclinical models of uro-oncology.
Nature Communications
Risbridger, Gail P GP; Clark, Ashlee K AK; Porter, Laura H LH; Toivanen, Roxanne R; Bakshi, Andrew A; Lister, Natalie L NL; Pook, David D; Pezaro, Carmel J CJ; Sandhu, Shahneen S; Keerthikumar, Shivakumar S; Quezada Urban, Rosalia R; Papargiris, Melissa M; Kraska, Jenna J; Madsen, Heather B HB; Wang, Hong H; Richards, Michelle G MG; Niranjan, Birunthi B; O'Dea, Samantha S; Teng, Linda L; Wheelahan, William W; Li, Zhuoer Z; Choo, Nicholas N; Ouyang, John F JF; Thorne, Heather H; Devereux, Lisa L; Hicks, Rodney J RJ; Sengupta, Shomik S; Harewood, Laurence L; Iddawala, Mahesh M; Azad, Arun A AA; Goad, Jeremy J; Grummet, Jeremy J; Kourambas, John J; Kwan, Edmond M EM; Moon, Daniel D; Murphy, Declan G DG; Pedersen, John J; Clouston, David D; Norden, Sam S; Ryan, Andrew A; Furic, Luc L; Goode, David L DL; Frydenberg, Mark M; Lawrence, Mitchell G MG; Taylor, Renea A RA
Publication Date: 2021-08-19
Variant appearance in text: RET: 2556C>G; Ile852Met; rs377767426
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
NOTCH and DNA repair pathways are more frequently targeted by genomic alterations in inflammatory than in non-inflammatory breast cancers.
Molecular Oncology
Bertucci, François F; Rypens, Charlotte C; Finetti, Pascal P; Guille, Arnaud A; Adélaïde, José J; Monneur, Audrey A; Carbuccia, Nadine N; Garnier, Séverine S; Dirix, Piet P; Gonçalves, Anthony A; Vermeulen, Peter P; Debeb, Bisrat G BG; Wang, Xiaoping X; Dirix, Luc L; Ueno, Naoto T NT; Viens, Patrice P; Cristofanilli, Massimo M; Chaffanet, Max M; Birnbaum, Daniel D; Van Laere, Steven S
Assessing the Pathogenicity, Penetrance, and Expressivity of Putative Disease-Causing Variants in a Population Setting.
American Journal Of Human Genetics
Wright, Caroline F CF; West, Ben B; Tuke, Marcus M; Jones, Samuel E SE; Patel, Kashyap K; Laver, Thomas W TW; Beaumont, Robin N RN; Tyrrell, Jessica J; Wood, Andrew R AR; Frayling, Timothy M TM; Hattersley, Andrew T AT; Weedon, Michael N MN
Pathogenic Germline Variants in 10,389 Adult Cancers.
Cell
Huang, Kuan-Lin KL; Mashl, R Jay RJ; Wu, Yige Y; Ritter, Deborah I DI; Wang, Jiayin J; Oh, Clara C; Paczkowska, Marta M; Reynolds, Sheila S; Wyczalkowski, Matthew A MA; Oak, Ninad N; Scott, Adam D AD; Krassowski, Michal M; Cherniack, Andrew D AD; Houlahan, Kathleen E KE; Jayasinghe, Reyka R; Wang, Liang-Bo LB; Zhou, Daniel Cui DC; Liu, Di D; Cao, Song S; Kim, Young Won YW; Koire, Amanda A; McMichael, Joshua F JF; Hucthagowder, Vishwanathan V; Kim, Tae-Beom TB; Hahn, Abigail A; Wang, Chen C; McLellan, Michael D MD; Al-Mulla, Fahd F; Johnson, Kimberly J KJ; , ; Lichtarge, Olivier O; Boutros, Paul C PC; Raphael, Benjamin B; Lazar, Alexander J AJ; Zhang, Wei W; Wendl, Michael C MC; Govindan, Ramaswamy R; Jain, Sanjay S; Wheeler, David D; Kulkarni, Shashikant S; Dipersio, John F JF; Reimand, Jüri J; Meric-Bernstam, Funda F; Chen, Ken K; Shmulevich, Ilya I; Plon, Sharon E SE; Chen, Feng F; Ding, Li L
Infantile spasms and encephalopathy without preceding neonatal seizures caused by KCNQ2 R198Q, a gain-of-function variant.
Epilepsia
Millichap, John J JJ; Miceli, Francesco F; De Maria, Michela M; Keator, Cynthia C; Joshi, Nishtha N; Tran, Baouyen B; Soldovieri, Maria Virginia MV; Ambrosino, Paolo P; Shashi, Vandana V; Mikati, Mohamad A MA; Cooper, Edward C EC; Taglialatela, Maurizio M