Calibration of computational tools for missense variant pathogenicity classification and ClinGen recommendations for PP3/BP4 criteria.
American Journal Of Human Genetics
Pejaver, Vikas V; Byrne, Alicia B AB; Feng, Bing-Jian BJ; Pagel, Kymberleigh A KA; Mooney, Sean D SD; Karchin, Rachel R; O'Donnell-Luria, Anne A; Harrison, Steven M SM; Tavtigian, Sean V SV; Greenblatt, Marc S MS; Biesecker, Leslie G LG; Radivojac, Predrag P; Brenner, Steven E SE; ,
Publication Date: 2022-12-01
Variant appearance in text: PTEN: R159S; rs1057519724
Construction and validation of an immunoediting-based optimized neoantigen load (ioTNL) model to predict the response and prognosis of immune checkpoint therapy in various cancers.
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
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
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
Phase and context shape the function of composite oncogenic mutations.
Nature
Gorelick, Alexander N AN; Sánchez-Rivera, Francisco J FJ; Cai, Yanyan Y; Bielski, Craig M CM; Biederstedt, Evan E; Jonsson, Philip P; Richards, Allison L AL; Vasan, Neil N; Penson, Alexander V AV; Friedman, Noah D ND; Ho, Yu-Jui YJ; Baslan, Timour T; Bandlamudi, Chaitanya C; Scaltriti, Maurizio M; Schultz, Nikolaus N; Lowe, Scott W SW; Reznik, Ed E; Taylor, Barry S BS
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
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; ,
Systematic Analysis of Splice-Site-Creating Mutations in Cancer.
Cell Reports
Jayasinghe, Reyka G RG; Cao, Song S; Gao, Qingsong Q; Wendl, Michael C MC; Vo, Nam Sy NS; Reynolds, Sheila M SM; Zhao, Yanyan Y; Climente-González, Héctor H; Chai, Shengjie S; Wang, Fang F; Varghese, Rajees R; Huang, Mo M; Liang, Wen-Wei WW; Wyczalkowski, Matthew A MA; Sengupta, Sohini S; Li, Zhi Z; Payne, Samuel H SH; Fenyö, David D; Miner, Jeffrey H JH; Walter, Matthew J MJ; , ; Vincent, Benjamin B; Eyras, Eduardo E; Chen, Ken K; Shmulevich, Ilya I; Chen, Feng F; Ding, Li L
Publication Date: 2018-04-03
Variant appearance in text: PTEN: 477G>T; Arg159Ser
Cancer Genome Interpreter annotates the biological and clinical relevance of tumor alterations.
Genome Medicine
Tamborero, David D; Rubio-Perez, Carlota C; Deu-Pons, Jordi J; Schroeder, Michael P MP; Vivancos, Ana A; Rovira, Ana A; Tusquets, Ignasi I; Albanell, Joan J; Rodon, Jordi J; Tabernero, Josep J; de Torres, Carmen C; Dienstmann, Rodrigo R; Gonzalez-Perez, Abel A; Lopez-Bigas, Nuria N
Genomic markers of ovarian adenocarcinoma and its relevancy to the effectiveness of chemotherapy.
Oncology Letters
Englert-Golon, Monika M; Burchardt, Bartosz B; Budny, Bartlomiej B; Dębicki, Szymon S; Majchrzycka, Blanka B; Wrotkowska, Elzbieta E; Jasiński, Piotr P; Ziemnicka, Katarzyna K; Słopień, Radosław R; Ruchała, Marek M; Sajdak, Stefan S
Comparing mutation calls in fixed tumour samples between the affymetrix OncoScan® array and PCR based next-generation sequencing.
Bmc Medical Genomics
Wood, Henry M HM; Foster, Joseph M JM; Taylor, Morag M; Tinkler-Hundal, Emma E; Togneri, Fiona S FS; Wojtowicz, Paula P; Oumie, Assa A; Spink, Karen G KG; Brew, Fiona F; Quirke, Philip P
Functional KRAS mutations and a potential role for PI3K/AKT activation in Wilms tumors.
Molecular Oncology
Polosukhina, Dina D; Love, Harold D HD; Correa, Hernan H; Su, Zengliu Z; Dahlman, Kimberly B KB; Pao, William W; Moses, Harold L HL; Arteaga, Carlos L CL; Lovvorn, Harold N HN; Zent, Roy R; Clark, Peter E PE
A Landscape of Pharmacogenomic Interactions in Cancer.
Cell
Iorio, Francesco F; Knijnenburg, Theo A TA; Vis, Daniel J DJ; Bignell, Graham R GR; Menden, Michael P MP; Schubert, Michael M; Aben, Nanne N; Gonçalves, Emanuel E; Barthorpe, Syd S; Lightfoot, Howard H; Cokelaer, Thomas T; Greninger, Patricia P; van Dyk, Ewald E; Chang, Han H; de Silva, Heshani H; Heyn, Holger H; Deng, Xianming X; Egan, Regina K RK; Liu, Qingsong Q; Mironenko, Tatiana T; Mitropoulos, Xeni X; Richardson, Laura L; Wang, Jinhua J; Zhang, Tinghu T; Moran, Sebastian S; Sayols, Sergi S; Soleimani, Maryam M; Tamborero, David D; Lopez-Bigas, Nuria N; Ross-Macdonald, Petra P; Esteller, Manel M; Gray, Nathanael S NS; Haber, Daniel A DA; Stratton, Michael R MR; Benes, Cyril H CH; Wessels, Lodewyk F A LFA; Saez-Rodriguez, Julio J; McDermott, Ultan U; Garnett, Mathew J MJ
Genetic heterogeneity of RPMI-8402, a T-acute lymphoblastic leukemia cell line.
Oncology Letters
Stoczynska-Fidelus, Ewelina E; Piaskowski, Sylwester S; Pawlowska, Roza R; Szybka, Malgorzata M; Peciak, Joanna J; Hulas-Bigoszewska, Krystyna K; Winiecka-Klimek, Marta M; Rieske, Piotr P
Co-clinical assessment identifies patterns of BRAF inhibitor resistance in melanoma.
The Journal Of Clinical Investigation
Kwong, Lawrence N LN; Boland, Genevieve M GM; Frederick, Dennie T DT; Helms, Timothy L TL; Akid, Ahmad T AT; Miller, John P JP; Jiang, Shan S; Cooper, Zachary A ZA; Song, Xingzhi X; Seth, Sahil S; Kamara, Jennifer J; Protopopov, Alexei A; Mills, Gordon B GB; Flaherty, Keith T KT; Wargo, Jennifer A JA; Chin, Lynda L
Age-related mutations associated with clonal hematopoietic expansion and malignancies.
Nature Medicine
Xie, Mingchao M; Lu, Charles C; Wang, Jiayin J; McLellan, Michael D MD; Johnson, Kimberly J KJ; Wendl, Michael C MC; McMichael, Joshua F JF; Schmidt, Heather K HK; Yellapantula, Venkata V; Miller, Christopher A CA; Ozenberger, Bradley A BA; Welch, John S JS; Link, Daniel C DC; Walter, Matthew J MJ; Mardis, Elaine R ER; Dipersio, John F JF; Chen, Feng F; Wilson, Richard K RK; Ley, Timothy J TJ; Ding, Li L
Stand up to cancer phase Ib study of pan-phosphoinositide-3-kinase inhibitor buparlisib with letrozole in estrogen receptor-positive/human epidermal growth factor receptor 2-negative metastatic breast cancer.
Journal Of Clinical Oncology : Official Journal Of The American Society Of Clinical Oncology
Mayer, Ingrid A IA; Abramson, Vandana G VG; Isakoff, Steven J SJ; Forero, Andres A; Balko, Justin M JM; Kuba, María Gabriela MG; Sanders, Melinda E ME; Yap, Jeffrey T JT; Van den Abbeele, Annick D AD; Li, Yisheng Y; Cantley, Lewis C LC; Winer, Eric E; Arteaga, Carlos L CL
The integrated landscape of driver genomic alterations in glioblastoma.
Nature Genetics
Frattini, Veronique V; Trifonov, Vladimir V; Chan, Joseph Minhow JM; Castano, Angelica A; Lia, Marie M; Abate, Francesco F; Keir, Stephen T ST; Ji, Alan X AX; Zoppoli, Pietro P; Niola, Francesco F; Danussi, Carla C; Dolgalev, Igor I; Porrati, Paola P; Pellegatta, Serena S; Heguy, Adriana A; Gupta, Gaurav G; Pisapia, David J DJ; Canoll, Peter P; Bruce, Jeffrey N JN; McLendon, Roger E RE; Yan, Hai H; Aldape, Ken K; Finocchiaro, Gaetano G; Mikkelsen, Tom T; Privé, Gilbert G GG; Bigner, Darell D DD; Lasorella, Anna A; Rabadan, Raul R; Iavarone, Antonio A
Mutational loss of PTEN induces resistance to NOTCH1 inhibition in T-cell leukemia.
Nature Medicine
Palomero, Teresa T; Sulis, Maria Luisa ML; Cortina, Maria M; Real, Pedro J PJ; Barnes, Kelly K; Ciofani, Maria M; Caparros, Esther E; Buteau, Jean J; Brown, Kristy K; Perkins, Sherrie L SL; Bhagat, Govind G; Agarwal, Archana M AM; Basso, Giuseppe G; Castillo, Mireia M; Nagase, Satoru S; Cordon-Cardo, Carlos C; Parsons, Ramon R; Zúñiga-Pflücker, Juan Carlos JC; Dominguez, Maria M; Ferrando, Adolfo A AA