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: MET: 504G>T; Glu168Asp
A Phase II Trial of Guadecitabine plus Atezolizumab in Metastatic Urothelial Carcinoma Progressing after Initial Immune Checkpoint Inhibitor Therapy.
Clinical Cancer Research : An Official Journal Of The American Association For Cancer Research
Jang, H Josh HJ; Hostetter, Galen G; MacFarlane, Alexander W AW; Madaj, Zachary Z; Ross, Eric A EA; Hinoue, Toshinori T; Kulchycki, Justin R JR; Burgos, Ryan S RS; Tafseer, Mahvish M; Alpaugh, R Katherine RK; Schwebel, Candice L CL; Kokate, Rutika R; Geynisman, Daniel M DM; Zibelman, Matthew R MR; Ghatalia, Pooja P; Nichols, Peter W PW; Chung, Woonbok W; Madzo, Jozef J; Hahn, Noah M NM; Quinn, David I DI; Issa, Jean-Pierre J JJ; Topper, Michael J MJ; Baylin, Stephen B SB; Shen, Hui H; Campbell, Kerry S KS; Jones, Peter A PA; Plimack, Elizabeth R ER
Integrated multi-omic analysis of low-grade ovarian serous carcinoma collected from short and long-term survivors.
Journal Of Translational Medicine
Wong, Kwong-Kwok KK; Bateman, Nicholas W NW; Ng, Chun Wai CW; Tsang, Yvonne T M YTM; Sun, Charlotte S CS; Celestino, Joseph J; Nguyen, Tri V TV; Malpica, Anais A; Hillman, R Tyler RT; Zhang, Jianhua J; Futreal, P Andrew PA; Rojas, Christine C; Conrads, Kelly A KA; Hood, Brian L BL; Dalgard, Clifton L CL; Wilkerson, Matthew D MD; Phippen, Neil T NT; Conrads, Thomas P TP; Maxwell, George L GL; Sood, Anil K AK; Gershenson, David M DM
MET gene alterations predict poor survival following chemotherapy in patients with advanced cancer.
Pathology Oncology Research : Por
Ko, Jihoon J; Jung, Jaeyun J; Kim, Seung Tae ST; Hong, Jung Yong JY; Park, Sehhoon S; Park, Joon Oh JO; Park, Young Suk YS; Lim, Ho Yeong HY; Ahn, Soomin S; Kim, Kyoung-Mee KM; Kang, Won Ki WK; Lee, Jeeyun J
A Genomically and Clinically Annotated Patient-Derived Xenograft Resource for Preclinical Research in Non-Small Cell Lung Cancer.
Cancer Research
Woo, Xing Yi XY; Srivastava, Anuj A; Mack, Philip C PC; Graber, Joel H JH; Sanderson, Brian J BJ; Lloyd, Michael W MW; Chen, Mandy M; Domanskyi, Sergii S; Gandour-Edwards, Regina R; Tsai, Rebekah A RA; Keck, James J; Cheng, Mingshan M; Bundy, Margaret M; Jocoy, Emily L EL; Riess, Jonathan W JW; Holland, William W; Grubb, Stephen C SC; Peterson, James G JG; Stafford, Grace A GA; Paisie, Carolyn C; Neuhauser, Steven B SB; Karuturi, R Krishna Murthy RKM; George, Joshy J; Simons, Allen K AK; Chavaree, Margaret M; Tepper, Clifford G CG; Goodwin, Neal N; Airhart, Susan D SD; Lara, Primo N PN; Openshaw, Thomas H TH; Liu, Edison T ET; Gandara, David R DR; Bult, Carol J CJ
Identification of a Gain-of-Function LIPC Variant as a Novel Cause of Familial Combined Hypocholesterolemia.
Circulation
Dijk, Wieneke W; Di Filippo, Mathilde M; Kooijman, Sander S; van Eenige, Robin R; Rimbert, Antoine A; Caillaud, Amandine A; Thedrez, Aurélie A; Arnaud, Lucie L; Pronk, Amanda A; Garçon, Damien D; Sotin, Thibaud T; Lindenbaum, Pierre P; Ozcariz Garcia, Enrique E; Pais de Barros, Jean-Paul JP; Duvillard, Laurence L; Si-Tayeb, Karim K; Amigo, Nuria N; Le Questel, Jean-Yves JY; Rensen, Patrick C N PCN; Le May, Cédric C; Moulin, Philippe P; Cariou, Bertrand B
Publication Date: 2022-09-06
Variant appearance in text: MET: 504G>T; Glu168Asp; rs55985569
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: MET: 504G>T; Glu168Asp
The clinical significance of adenomatous polyposis coli (APC) and catenin Beta 1 (CTNNB1) genetic aberrations in patients with melanoma.
Bmc Cancer
Karachaliou, Georgia Sofia GS; Alkallas, Rached R; Carroll, Sarah B SB; Caressi, Chongshan C; Zakria, Danny D; Patel, Nirali M NM; Trembath, Dimitri G DG; Ezzell, Jennifer A JA; Pegna, Guillaume J GJ; Googe, Paul B PB; Galeotti, Jonathan P JP; Ayvali, Fatih F; Collichio, Frances A FA; Lee, Carrie B CB; Ollila, David W DW; Gulley, Margaret L ML; Johnson, Douglas B DB; Kim, Kevin B KB; Watson, Ian R IR; Moschos, Stergios J SJ
The clinical significance of adenomatous polyposis coli (APC) and catenin Beta 1 (CTNNB1) genetic aberrations in patients with melanoma.
Bmc Cancer
Karachaliou, Georgia Sofia GS; Alkallas, Rached R; Carroll, Sarah B SB; Caressi, Chongshan C; Zakria, Danny D; Patel, Nirali M NM; Trembath, Dimitri G DG; Ezzell, Jennifer A JA; Pegna, Guillaume J GJ; Googe, Paul B PB; Galeotti, Jonathan P JP; Ayvali, Fatih F; Collichio, Frances A FA; Lee, Carrie B CB; Ollila, David W DW; Gulley, Margaret L ML; Johnson, Douglas B DB; Kim, Kevin B KB; Watson, Ian R IR; Moschos, Stergios J SJ
Discordance of PIK3CA and TP53 mutations between breast cancer brain metastases and matched primary tumors.
Scientific Reports
Thulin, Anna A; Andersson, Carola C; Werner Rönnerman, Elisabeth E; De Lara, Shahin S; Chamalidou, Chaido C; Schoenfeld, Arnd A; Kovács, Anikó A; Fagman, Henrik H; Enlund, Fredrik F; Linderholm, Barbro K BK
Discordance of PIK3CA and TP53 mutations between breast cancer brain metastases and matched primary tumors.
Scientific Reports
Thulin, Anna A; Andersson, Carola C; Werner Rönnerman, Elisabeth E; De Lara, Shahin S; Chamalidou, Chaido C; Schoenfeld, Arnd A; Kovács, Anikó A; Fagman, Henrik H; Enlund, Fredrik F; Linderholm, Barbro K BK
Combined multimodal ctDNA analysis and radiological imaging for tumor surveillance in Non-small cell lung cancer.
Translational Oncology
Metzenmacher, Martin M; Hegedüs, Balazs B; Forster, Jan J; Schramm, Alexander A; Horn, Peter A PA; Klein, Christoph A CA; Bielefeld, Nicola N; Ploenes, Till T; Aigner, Clemens C; Theegarten, Dirk D; Schildhaus, Hans-Ulrich HU; Siveke, Jens T JT; Schuler, Martin M; Lueong, Smiths S SS
Publication Date: 2022-01
Variant appearance in text: MET: 504G>T; Glu168Asp; rs55985569
Combined multimodal ctDNA analysis and radiological imaging for tumor surveillance in Non-small cell lung cancer.
Translational Oncology
Metzenmacher, Martin M; Hegedüs, Balazs B; Forster, Jan J; Schramm, Alexander A; Horn, Peter A PA; Klein, Christoph A CA; Bielefeld, Nicola N; Ploenes, Till T; Aigner, Clemens C; Theegarten, Dirk D; Schildhaus, Hans-Ulrich HU; Siveke, Jens T JT; Schuler, Martin M; Lueong, Smiths S SS
Publication Date: 2021-11-17
Variant appearance in text: MET: 504G>T; Glu168Asp; rs55985569
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 mutational load and a T-cell inflamed tumour phenotype identify ovarian cancer patients rendering tumour-reactive T cells from PD-1+ tumour-infiltrating lymphocytes.
British Journal Of Cancer
Salas-Benito, Diego D; Conde, Enrique E; Tamayo-Uria, Ibon I; Mancheño, Uxua U; Elizalde, Edurne E; Garcia-Ros, David D; Aramendia, Jose M JM; Muruzabal, Juan C JC; Alcaide, Julia J; Guillen-Grima, Francisco F; Minguez, Jose A JA; Amores-Tirado, Jose J; Gonzalez-Martin, Antonio A; Sarobe, Pablo P; Lasarte, Juan J JJ; Ponz-Sarvise, Mariano M; De Andrea, Carlos E CE; Hervas-Stubbs, Sandra S
Publication Date: 2021-03
Variant appearance in text: MET: 504G>T; Glu168Asp; rs55985569
Targeted genomic analysis of cutaneous T cell lymphomas identifies a subset with aggressive clinicopathological features.
Blood Cancer Journal
Argyropoulos, Kimon V KV; Pulitzer, Melissa M; Maura, Francesco F; Mohanty, Abhinita A; Mondello, Patrizia P; Horwitz, Steven M SM; Myskowski, Patricia P; Moskowitz, Alison A; Dogan, Ahmet A; Querfeld, Christiane C; Rapaport, Franck F; Siakantaris, Marina M; Louis, Peter C PC; Galasso, Natasha N; van den Brink, Marcel R M MRM; Palomba, M Lia ML
Exploitation of Precision Medicine Trials Data: Examples of Long Responders From the SHIVA01 Trial.
Jco Precision Oncology
Basse, Clémence C; Morel, Claire C; Callens, Céline C; Pierron, Gaëlle G; Servois, Vincent V; Vincent-Salomon, Anne A; Jobard, Aude A; Alt, Marie M; Ricci, Francesco F; Loirat, Delphine D; Sablin, Marie-Paule MP; Bretagne, Marie M; Saint-Ghislain, Mathilde M; Hescot, Ségolène S; Gonçalves, Anthony A; Tredan, Olivier O; Dubot, Coraline C; Gavoille, Céline C; Delord, Jean-Pierre JP; Campone, Mario M; Isambert, Nicolas N; Belin, Lisa L; Bieche, Ivan I; Kamal, Maud M; Le Tourneau, Christophe C
A deep analysis using panel-based next-generation sequencing in an Ecuadorian pediatric patient with anaplastic astrocytoma: a case report.
Journal Of Medical Case Reports
García-Cárdenas, Jennyfer M JM; Zambrano, Ana Karina AK; Guevara-Ramírez, Patricia P; Guerrero, Santiago S; Runruil, Gabriel G; López-Cortés, Andrés A; Torres-Yaguana, Jorge P JP; Armendáriz-Castillo, Isaac I; Pérez-Villa, Andy A; Yumiceba, Verónica V; Leone, Paola E PE; Paz-Y-Miño, César C
Publication Date: 2020-08-31
Variant appearance in text: MET: 504G>T; Glu168Asp
Targeted next generation sequencing identifies somatic mutations in a cohort of Egyptian breast cancer patients.
Journal Of Advanced Research
Nassar, Auhood A; Abouelhoda, Mohamed M; Mansour, Osman O; Loutfy, Samah A SA; Hafez, Mohamed M MM; Gomaa, M M; Bahnassy, Abeer A; El-Din Youssef, Amira Salah AS; Lotfy, Mai M MM; Ismail, Hoda H; Ahmed, Ola S OS; Abou-Bakr, Amany Abd-Elhameed AA; Zekri, Abdel-Rahman N AN
A common MET polymorphism harnesses HER2 signaling to drive aggressive squamous cell carcinoma.
Nature Communications
Kong, Li Ren LR; Mohamed Salleh, Nur Afiqah Binte NAB; Ong, Richard Weijie RW; Tan, Tuan Zea TZ; Syn, Nicholas L NL; Goh, Robby Miguel RM; Fhu, Chee Wai CW; Tan, Daniel S W DSW; Iyer, N Gopalakrishna NG; Kannan, Srinivasaraghavan S; Verma, Chandra S CS; Lim, Yaw Chyn YC; Soo, Ross R; Ho, Jingshan J; Huang, Yiqing Y; Lim, Joline S J JSJ; Yan, Benedict Junrong BJ; Nga, Min En ME; Lim, Seng Gee SG; Koeffler, H Phillip HP; Lee, Soo Chin SC; Kappei, Dennis D; Hung, Huynh The HT; Goh, Boon Cher BC
A phase I dose-escalation study of enzalutamide in combination with the AKT inhibitor AZD5363 (capivasertib) in patients with metastatic castration-resistant prostate cancer.
Annals Of Oncology : Official Journal Of The European Society For Medical Oncology
Kolinsky, M P MP; Rescigno, P P; Bianchini, D D; Zafeiriou, Z Z; Mehra, N N; Mateo, J J; Michalarea, V V; Riisnaes, R R; Crespo, M M; Figueiredo, I I; Miranda, S S; Nava Rodrigues, D D; Flohr, P P; Tunariu, N N; Banerji, U U; Ruddle, R R; Sharp, A A; Welti, J J; Lambros, M M; Carreira, S S; Raynaud, F I FI; Swales, K E KE; Plymate, S S; Luo, J J; Tovey, H H; Porta, N N; Slade, R R; Leonard, L L; Hall, E E; de Bono, J S JS
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
Genomics of lethal prostate cancer at diagnosis and castration resistance.
The Journal Of Clinical Investigation
Mateo, Joaquin J; Seed, George G; Bertan, Claudia C; Rescigno, Pasquale P; Dolling, David D; Figueiredo, Ines I; Miranda, Susana S; Nava Rodrigues, Daniel D; Gurel, Bora B; Clarke, Matthew M; Atkin, Mark M; Chandler, Rob R; Messina, Carlo C; Sumanasuriya, Semini S; Bianchini, Diletta D; Barrero, Maialen M; Petermolo, Antonella A; Zafeiriou, Zafeiris Z; Fontes, Mariane M; Perez-Lopez, Raquel R; Tunariu, Nina N; Fulton, Ben B; Jones, Robert R; McGovern, Ursula U; Ralph, Christy C; Varughese, Mohini M; Parikh, Omi O; Jain, Suneil S; Elliott, Tony T; Sandhu, Shahneen S; Porta, Nuria N; Hall, Emma E; Yuan, Wei W; Carreira, Suzanne S; de Bono, Johann S JS
Publication Date: 2020-04-01
Variant appearance in text: MET: 504G>T; E168D; rs55985569
The Role of c-Met as a Biomarker and Player in Innate and Acquired Resistance in Non-Small-Cell Lung Cancer: Two New Mutations Warrant Further Studies.
Molecules (Basel, Switzerland)
Van Der Steen, Nele N; Zwaenepoel, Karen K; Mazzaschi, Giulia G; A Luirink, Rosa R; P Geerke, Daan D; Op de Beeck, Ken K; Hermans, Christophe C; Tiseo, Marcello M; Van Schil, Paul P; Lardon, Filip F; Germonpré, Paul P; Rolfo, Christian C; Giovannetti, Elisa E; J Peters, Godefridus G; Pauwels, Patrick P
Development and validation of a targeted gene sequencing panel for application to disparate cancers.
Scientific Reports
McCabe, Mark J MJ; Gauthier, Marie-Emilie A MA; Chan, Chia-Ling CL; Thompson, Tanya J TJ; De Sousa, Sunita M C SMC; Puttick, Clare C; Grady, John P JP; Gayevskiy, Velimir V; Tao, Jiang J; Ying, Kevin K; Cipponi, Arcadi A; Deng, Niantao N; Swarbrick, Alex A; Thomas, Melissa L ML; Lord, Reginald V RV; Johns, Amber L AL; Kohonen-Corish, Maija M; O'Toole, Sandra A SA; Clark, Jonathan J; Mueller, Simon A SA; Gupta, Ruta R; McCormack, Ann I AI; Dinger, Marcel E ME; Cowley, Mark J MJ; ,
False-negative errors in next-generation sequencing contribute substantially to inconsistency of mutation databases.
Plos One
Kim, Young-Ho YH; Song, Yura Y; Kim, Jong-Kwang JK; Kim, Tae-Min TM; Sim, Hye Won HW; Kim, Hyung-Lae HL; Jang, Hyonchol H; Kim, Young-Woo YW; Hong, Kyeong-Man KM
An Integrated Next-Generation Sequencing System for Analyzing DNA Mutations, Gene Fusions, and RNA Expression in Lung Cancer.
Translational Oncology
Haynes, Brian C BC; Blidner, Richard A RA; Cardwell, Robyn D RD; Zeigler, Robert R; Gokul, Shobha S; Thibert, Julie R JR; Chen, Liangjing L; Fujimoto, Junya J; Papadimitrakopoulou, Vassiliki A VA; Wistuba, Ignacio I II; Latham, Gary J GJ
A reference collection of patient-derived cell line and xenograft models of proneural, classical and mesenchymal glioblastoma.
Scientific Reports
Stringer, Brett W BW; Day, Bryan W BW; D'Souza, Rochelle C J RCJ; Jamieson, Paul R PR; Ensbey, Kathleen S KS; Bruce, Zara C ZC; Lim, Yi Chieh YC; Goasdoué, Kate K; Offenhäuser, Carolin C; Akgül, Seçkin S; Allan, Suzanne S; Robertson, Thomas T; Lucas, Peter P; Tollesson, Gert G; Campbell, Scott S; Winter, Craig C; Do, Hongdo H; Dobrovic, Alexander A; Inglis, Po-Ling PL; Jeffree, Rosalind L RL; Johns, Terrance G TG; Boyd, Andrew W AW
Publication Date: 2019-03-20
Variant appearance in text: MET: E168D; rs55985569
KRAS mutation in secondary malignant histiocytosis arising from low grade follicular lymphoma.
Diagnostic Pathology
Choi, Sarah M SM; Andea, Aleodor A AA; Wang, Min M; Behdad, Amir A; Shao, Lina L; Zhang, Yanming Y; Lu, Xinyan X; Dittmann, David D; Castro, Juan J; Chen, Yi-Hua YH; Gao, Juehua J
Human primary liver cancer-derived organoid cultures for disease modeling and drug screening.
Nature Medicine
Broutier, Laura L; Mastrogiovanni, Gianmarco G; Verstegen, Monique Ma MM; Francies, Hayley E HE; Gavarró, Lena Morrill LM; Bradshaw, Charles R CR; Allen, George E GE; Arnes-Benito, Robert R; Sidorova, Olga O; Gaspersz, Marcia P MP; Georgakopoulos, Nikitas N; Koo, Bon-Kyoung BK; Dietmann, Sabine S; Davies, Susan E SE; Praseedom, Raaj K RK; Lieshout, Ruby R; IJzermans, Jan N M JNM; Wigmore, Stephen J SJ; Saeb-Parsy, Kourosh K; Garnett, Mathew J MJ; van der Laan, Luc Jw LJ; Huch, Meritxell M
Publication Date: 2017-12
Variant appearance in text: MET: 504G>T; Glu168Asp
Heterogeneity in the colorectal primary tumor and the synchronous resected liver metastases prior to and after treatment with an anti-EGFR monoclonal antibody.
Molecular And Clinical Oncology
Adua, Daniela D; Di Fabio, Francesca F; Ercolani, Giorgio G; Fiorentino, Michelangelo M; Gruppioni, Elisa E; Altimari, Annalisa A; Rojas Limpe, Fabiola Lorena FL; Normanno, Nicola N; Pinna, Antonio Daniele AD; Pinto, Carmine C