Molecular landscape of TP53 mutations in breast cancer and their utility for predicting the response to HER-targeted therapy in HER2 amplification-positive and HER2 mutation-positive amplification-negative patients.
Structure-function analysis of oncogenic EGFR Kinase Domain Duplication reveals insights into activation and a potential approach for therapeutic targeting.
Nature Communications
Du, Zhenfang Z; Brown, Benjamin P BP; Kim, Soyeon S; Ferguson, Donna D; Pavlick, Dean C DC; Jayakumaran, Gowtham G; Benayed, Ryma R; Gallant, Jean-Nicolas JN; Zhang, Yun-Kai YK; Yan, Yingjun Y; Red-Brewer, Monica M; Ali, Siraj M SM; Schrock, Alexa B AB; Zehir, Ahmet A; Ladanyi, Marc M; Smith, Adam W AW; Meiler, Jens J; Lovly, Christine M CM
Integrated molecular drivers coordinate biological and clinical states in melanoma.
Nature Genetics
Conway, Jake R JR; Dietlein, Felix F; Taylor-Weiner, Amaro A; AlDubayan, Saud S; Vokes, Natalie N; Keenan, Tanya T; Reardon, Brendan B; He, Meng Xiao MX; Margolis, Claire A CA; Weirather, Jason L JL; Haq, Rizwan R; Schilling, Bastian B; Stephen Hodi, F F; Schadendorf, Dirk D; Liu, David D; Van Allen, Eliezer M EM
Identification of relevant genetic alterations in cancer using topological data analysis.
Nature Communications
Rabadán, Raúl R; Mohamedi, Yamina Y; Rubin, Udi U; Chu, Tim T; Alghalith, Adam N AN; Elliott, Oliver O; Arnés, Luis L; Cal, Santiago S; Obaya, Álvaro J ÁJ; Levine, Arnold J AJ; Cámara, Pablo G PG
Pan-cancer whole-genome analyses of metastatic solid tumours.
Nature
Priestley, Peter P; Baber, Jonathan J; Lolkema, Martijn P MP; Steeghs, Neeltje N; de Bruijn, Ewart E; Shale, Charles C; Duyvesteyn, Korneel K; Haidari, Susan S; van Hoeck, Arne A; Onstenk, Wendy W; Roepman, Paul P; Voda, Mircea M; Bloemendal, Haiko J HJ; Tjan-Heijnen, Vivianne C G VCG; van Herpen, Carla M L CML; Labots, Mariette M; Witteveen, Petronella O PO; Smit, Egbert F EF; Sleijfer, Stefan S; Voest, Emile E EE; Cuppen, Edwin E
MYC dysregulation in the progression of multiple myeloma.
Leukemia
Misund, Kristine K; Keane, Niamh N; Stein, Caleb K CK; Asmann, Yan W YW; Day, Grady G; Welsh, Seth S; Van Wier, Scott A SA; Riggs, Daniel L DL; Ahmann, Greg G; Chesi, Marta M; Viswanatha, David S DS; Kumar, Shaji K SK; Dispenzieri, Angela A; Gonzalez-Calle, Veronica V; Kyle, Robert A RA; O'Dwyer, Michael M; Rajkumar, S Vincent SV; Kortüm, K Martin KM; Keats, J Jonathan JJ; , ; Fonseca, Rafael R; Stewart, A Keith AK; Kuehl, W Michael WM; Braggio, Esteban E; Bergsagel, P Leif PL
Publication Date: 2020-01
Variant appearance in text: EGFR: 2509G>A; Asp837Asn
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
Clinical massively parallel next-generation sequencing analysis of 409 cancer-related genes for mutations and copy number variations in solid tumours.
British Journal Of Cancer
Singh, R R RR; Patel, K P KP; Routbort, M J MJ; Aldape, K K; Lu, X X; Manekia, J J; Abraham, R R; Reddy, N G NG; Barkoh, B A BA; Veliyathu, J J; Medeiros, L J LJ; Luthra, R R
Integrated analysis of germline and somatic variants in ovarian cancer.
Nature Communications
Kanchi, Krishna L KL; Johnson, Kimberly J KJ; Lu, Charles C; McLellan, Michael D MD; Leiserson, Mark D M MD; Wendl, Michael C MC; Zhang, Qunyuan Q; Koboldt, Daniel C DC; Xie, Mingchao M; Kandoth, Cyriac C; McMichael, Joshua F JF; Wyczalkowski, Matthew A MA; Larson, David E DE; Schmidt, Heather K HK; Miller, Christopher A CA; Fulton, Robert S RS; Spellman, Paul T PT; Mardis, Elaine R ER; Druley, Todd E TE; Graubert, Timothy A TA; Goodfellow, Paul J PJ; Raphael, Benjamin J BJ; Wilson, Richard K RK; Ding, Li L
Limited copy number-high resolution melting (LCN-HRM) enables the detection and identification by sequencing of low level mutations in cancer biopsies.