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: R255Q; rs372202099
Nationwide germline whole genome sequencing of 198 consecutive pediatric cancer patients reveals a high incidence of cancer prone syndromes.
Plos Genetics
Byrjalsen, Anna A; Hansen, Thomas V O TVO; Stoltze, Ulrik K UK; Mehrjouy, Mana M MM; Barnkob, Nanna Moeller NM; Hjalgrim, Lisa L LL; Mathiasen, René R; Lautrup, Charlotte K CK; Gregersen, Pernille A PA; Hasle, Henrik H; Wehner, Peder S PS; Tuckuviene, Ruta R; Sackett, Peter Wad PW; Laspiur, Adrian O AO; Rossing, Maria M; Marvig, Rasmus L RL; Tommerup, Niels N; Olsen, Tina Elisabeth TE; Scheie, David D; Gupta, Ramneek R; Gerdes, Anne-Marie AM; Schmiegelow, Kjeld K; Wadt, Karin K
Publication Date: 2020-12
Variant appearance in text: EGFR: 764G>A; Arg255Gln
Community assessment to advance computational prediction of cancer drug combinations in a pharmacogenomic screen.
Nature Communications
Menden, Michael P MP; Wang, Dennis D; Mason, Mike J MJ; Szalai, Bence B; Bulusu, Krishna C KC; Guan, Yuanfang Y; Yu, Thomas T; Kang, Jaewoo J; Jeon, Minji M; Wolfinger, Russ R; Nguyen, Tin T; Zaslavskiy, Mikhail M; , ; Jang, In Sock IS; Ghazoui, Zara Z; Ahsen, Mehmet Eren ME; Vogel, Robert R; Neto, Elias Chaibub EC; Norman, Thea T; Tang, Eric K Y EKY; Garnett, Mathew J MJ; Veroli, Giovanni Y Di GYD; Fawell, Stephen S; Stolovitzky, Gustavo G; Guinney, Justin J; Dry, Jonathan R JR; Saez-Rodriguez, Julio J
Machine Learning Detects Pan-cancer Ras Pathway Activation in The Cancer Genome Atlas.
Cell Reports
Way, Gregory P GP; Sanchez-Vega, Francisco F; La, Konnor K; Armenia, Joshua J; Chatila, Walid K WK; Luna, Augustin A; Sander, Chris C; Cherniack, Andrew D AD; Mina, Marco M; Ciriello, Giovanni G; Schultz, Nikolaus N; , ; Sanchez, Yolanda Y; Greene, Casey S CS
Development of a personalized therapeutic strategy for ERBB-gene-mutated cancers.
Therapeutic Advances In Medical Oncology
Milewska, Malgorzata M; Cremona, Mattia M; Morgan, Clare C; O'Shea, John J; Carr, Aoife A; Vellanki, Sri H SH; Hopkins, Ann M AM; Toomey, Sinead S; Madden, Stephen F SF; Hennessy, Bryan T BT; Eustace, Alex J AJ
Whole exome sequencing identified sixty-five coding mutations in four neuroblastoma tumors.
Scientific Reports
Miller, Aubrey L AL; Garcia, Patrick L PL; Pressey, Joseph G JG; Beierle, Elizabeth A EA; Kelly, David R DR; Crossman, David K DK; Council, Leona N LN; Daniel, Richard R; Watts, Raymond G RG; Cramer, Stuart L SL; Yoon, Karina J KJ
Publication Date: 2017-12-19
Variant appearance in text: EGFR: 764G>A; Arg255Gln
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
Ovarian cancer cell line panel (OCCP): clinical importance of in vitro morphological subtypes.
Plos One
Beaufort, Corine M CM; Helmijr, Jean C A JC; Piskorz, Anna M AM; Hoogstraat, Marlous M; Ruigrok-Ritstier, Kirsten K; Besselink, Nicolle N; Murtaza, Muhammed M; van IJcken, Wilfred F J WF; Heine, Anouk A J AA; Smid, Marcel M; Koudijs, Marco J MJ; Brenton, James D JD; Berns, Els M J J EM; Helleman, Jozien J