Network expansion of genetic associations defines a pleiotropy map of human cell biology.
Nature Genetics
Barrio-Hernandez, Inigo I; Schwartzentruber, Jeremy J; Shrivastava, Anjali A; Del-Toro, Noemi N; Gonzalez, Asier A; Zhang, Qian Q; Mountjoy, Edward E; Suveges, Daniel D; Ochoa, David D; Ghoussaini, Maya M; Bradley, Glyn G; Hermjakob, Henning H; Orchard, Sandra S; Dunham, Ian I; Anderson, Carl A CA; Porras, Pablo P; Beltrao, Pedro P
Publication Date: 2023-02-23
Variant appearance in text: EGFR: 2252C>T; Thr751Ile
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: EGFR: T751I; rs727504316
Somatic targeted mutation profiling of colorectal cancer precursor lesions.
Bmc Medical Genomics
Dos Santos, Wellington W; Dos Reis, Mariana Bisarro MB; Porto, Jun J; de Carvalho, Ana Carolina AC; Matsushita, Marcus M; Oliveira, Gabriela G; Syrjänen, Kari K; Reis, Rui Manuel RM; Guimarães, Denise Peixoto DP
Publication Date: 2022-06-28
Variant appearance in text: EGFR: T751I; rs727504316
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
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
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
Comprehensive characterization of the mutational landscape in multiple myeloma cell lines reveals potential drivers and pathways associated with tumor progression and drug resistance.
Theranostics
Vikova, Veronika V; Jourdan, Michel M; Robert, Nicolas N; Requirand, Guilhem G; Boireau, Stéphanie S; Bruyer, Angélique A; Vincent, Laure L; Cartron, Guillaume G; Klein, Bernard B; Elemento, Olivier O; Kassambara, Alboukadel A; Moreaux, Jérôme J
Targeted mutation detection in breast cancer using MammaSeq™.
Breast Cancer Research : Bcr
Smith, Nicholas G NG; Gyanchandani, Rekha R; Shah, Osama S OS; Gurda, Grzegorz T GT; Lucas, Peter C PC; Hartmaier, Ryan J RJ; Brufsky, Adam M AM; Puhalla, Shannon S; Bahreini, Amir A; Kota, Karthik K; Wald, Abigail I AI; Nikiforov, Yuri E YE; Nikiforova, Marina N MN; Oesterreich, Steffi S; Lee, Adrian V AV
Integrative omics analyses broaden treatment targets in human cancer.
Genome Medicine
Sengupta, Sohini S; Sun, Sam Q SQ; Huang, Kuan-Lin KL; Oh, Clara C; Bailey, Matthew H MH; Varghese, Rajees R; Wyczalkowski, Matthew A MA; Ning, Jie J; Tripathi, Piyush P; McMichael, Joshua F JF; Johnson, Kimberly J KJ; Kandoth, Cyriac C; Welch, John J; Ma, Cynthia C; Wendl, Michael C MC; Payne, Samuel H SH; Fenyö, David D; Townsend, Reid R RR; Dipersio, John F JF; Chen, Feng F; Ding, Li L
Formalin fixation increases deamination mutation signature but should not lead to false positive mutations in clinical practice.
Plos One
Prentice, Leah M LM; Miller, Ruth R RR; Knaggs, Jeff J; Mazloomian, Alborz A; Aguirre Hernandez, Rosalia R; Franchini, Patrick P; Parsa, Kourosh K; Tessier-Cloutier, Basile B; Lapuk, Anna A; Huntsman, David D; Schaeffer, David F DF; Sheffield, Brandon S BS
Lung cancer mutation testing: a clinical retesting study of agreement between a real-time PCR and a mass spectrometry test.
Oncotarget
Shepherd, Phillip P; Sheath, Karen L KL; Tin, Sandar Tin ST; Khwaounjoo, Prashannata P; Aye, Phyu S PS; Li, Angie A; Laking, George R GR; Kingston, Nicola J NJ; Lewis, Christopher A CA; Mark Elwood, J J; Love, Donald R DR; McKeage, Mark J MJ
Clinical mutational profiling of 1006 lung cancers by next generation sequencing.
Oncotarget
Illei, Peter B PB; Belchis, Deborah D; Tseng, Li-Hui LH; Nguyen, Doreen D; De Marchi, Federico F; Haley, Lisa L; Riel, Stacy S; Beierl, Katie K; Zheng, Gang G; Brahmer, Julie R JR; Askin, Frederic B FB; Gocke, Christopher D CD; Eshleman, James R JR; Forde, Patrick M PM; Lin, Ming-Tseh MT
Proximal Aberrant Crypt Foci Associate with Synchronous Neoplasia and Are Primed for Neoplastic Progression.
Molecular Cancer Research : Mcr
Drew, David A DA; Mo, Allen A; Grady, James J JJ; Stevens, Richard G RG; Levine, Joel B JB; Brenner, Bruce M BM; Anderson, Joseph C JC; Forouhar, Faripour F; O'Brien, Michael J MJ; Devers, Thomas J TJ; Rosenberg, Daniel W DW
Molecular characterization of circulating colorectal tumor cells defines genetic signatures for individualized cancer care.
Oncotarget
Kong, Say Li SL; Liu, Xingliang X; Suhaimi, Nur-Afidah Mohamed NM; Koh, Kenneth Jia Hao KJH; Hu, Min M; Lee, Daniel Yoke San DYS; Cima, Igor I; Phyo, Wai Min WM; Lee, Esther Xing Wei EXW; Tai, Joyce A JA; Foong, Yu Miin YM; Vo, Jess Honganh JH; Koh, Poh Koon PK; Zhang, Tong T; Ying, Jackie Y JY; Lim, Bing B; Tan, Min-Han MH; Hillmer, Axel M AM
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
Ductal activation of oncogenic KRAS alone induces sarcomatoid phenotype.
Scientific Reports
Fu, Yong Y; Cruz-Monserrate, Zobeida Z; Helen Lin, H H; Chung, Yiyin Y; Ji, Baoan B; Lin, Szu-Min SM; Vonderfecht, Steven S; Logsdon, Craig D CD; Li, Chien-Feng CF; Ann, David K DK
Amplicon sequencing of colorectal cancer: variant calling in frozen and formalin-fixed samples.
Plos One
Betge, Johannes J; Kerr, Grainne G; Miersch, Thilo T; Leible, Svenja S; Erdmann, Gerrit G; Galata, Christian L CL; Zhan, Tianzuo T; Gaiser, Timo T; Post, Stefan S; Ebert, Matthias P MP; Horisberger, Karoline K; Boutros, Michael M
Tongue carcinoma infrequently harbor common actionable genetic alterations.
Bmc Cancer
Tan, Daniel S W DS; Wang, Weining W; Leong, Hui Sun HS; Sew, Pui Hoon PH; Lau, Dawn P DP; Chong, Fui Teen FT; Krisna, Sai Sakktee SS; Lim, Tony K H TK; Iyer, N Gopalakrishna NG
NCI-60 whole exome sequencing and pharmacological CellMiner analyses.
Plos One
Reinhold, William C WC; Varma, Sudhir S; Sousa, Fabricio F; Sunshine, Margot M; Abaan, Ogan D OD; Davis, Sean R SR; Reinhold, Spencer W SW; Kohn, Kurt W KW; Morris, Joel J; Meltzer, Paul S PS; Doroshow, James H JH; Pommier, Yves Y
Multiplex genomic profiling of non-small cell lung cancers from the LETS phase III trial of first-line S-1/carboplatin versus paclitaxel/carboplatin: results of a West Japan Oncology Group study.
Aberrations in the epidermal growth factor receptor gene in 958 patients with diverse advanced tumors: implications for therapy.
Annals Of Oncology : Official Journal Of The European Society For Medical Oncology
Wheler, J J JJ; Falchook, G S GS; Tsimberidou, A M AM; Hong, D S DS; Naing, A A; Piha-Paul, S A SA; Chen, S S SS; Fu, S S; Stephen, B B; Fok, J Y JY; Janku, F F; Kurzrock, R R
Detection of EGFR mutations with mutation-specific antibodies in stage IV non-small-cell lung cancer.
Journal Of Translational Medicine
Simonetti, Sara S; Molina, Miguel Angel MA; Queralt, Cristina C; de Aguirre, Itziar I; Mayo, Clara C; Bertran-Alamillo, Jordi J; Sanchez, José Javier JJ; Gonzalez-Larriba, Jose Luis JL; Jimenez, Ulpiano U; Isla, Dolores D; Moran, Teresa T; Viteri, Santiago S; Camps, Carlos C; Garcia-Campelo, Rosario R; Massuti, Bartomeu B; Benlloch, Susana S; Ramon y Cajal, Santiago S; Taron, Miquel M; Rosell, Rafael R
Limited copy number-high resolution melting (LCN-HRM) enables the detection and identification by sequencing of low level mutations in cancer biopsies.
Mutation analysis of 24 known cancer genes in the NCI-60 cell line set.
Molecular Cancer Therapeutics
Ikediobi, Ogechi N ON; Davies, Helen H; Bignell, Graham G; Edkins, Sarah S; Stevens, Claire C; O'Meara, Sarah S; Santarius, Thomas T; Avis, Tim T; Barthorpe, Syd S; Brackenbury, Lisa L; Buck, Gemma G; Butler, Adam A; Clements, Jody J; Cole, Jennifer J; Dicks, Ed E; Forbes, Simon S; Gray, Kristian K; Halliday, Kelly K; Harrison, Rachel R; Hills, Katy K; Hinton, Jonathan J; Hunter, Chris C; Jenkinson, Andy A; Jones, David D; Kosmidou, Vivienne V; Lugg, Richard R; Menzies, Andrew A; Mironenko, Tatiana T; Parker, Adrian A; Perry, Janet J; Raine, Keiran K; Richardson, David D; Shepherd, Rebecca R; Small, Alex A; Smith, Raffaella R; Solomon, Helen H; Stephens, Philip P; Teague, Jon J; Tofts, Calli C; Varian, Jennifer J; Webb, Tony T; West, Sofie S; Widaa, Sara S; Yates, Andy A; Reinhold, William W; Weinstein, John N JN; Stratton, Michael R MR; Futreal, P Andrew PA; Wooster, Richard R