Isolation and characterization of two newly established thymoma PDXs from two relapses of the same patient: a new tool to investigate thymic malignancies.
Journal Of Experimental & Clinical Cancer Research : Cr
Mendogni, Paolo P; Affatato, Roberta R; Cabri, Enrico E; Chiappa, Michela M; Ndembe, Gloriana G; Tosi, Davide D; Del Gobbo, Alessandro A; Fratelli, Maddalena M; Pardini, Eleonora E; Petrini, Iacopo I; Rosso, Lorenzo L; Broggini, Massimo M; Marabese, Mirko M
Mutually exclusive genetic interactions and gene essentiality shape the genomic landscape of primary melanoma.
The Journal Of Pathology
Birkeälv, Sofia S; Harland, Mark M; Matsuyama, Larissa Satiko Alcantara Sekimoto LSAS; Rashid, Mamun M; Mehta, Ishan I; Laye, Jonathan P JP; Haase, Kerstin K; Mell, Tracey T; Iyer, Vivek V; Robles-Espinoza, Carla Daniela CD; McDermott, Ultan U; van Loo, Peter P; Kuijjer, Marieke L ML; Possik, Patricia A PA; Maria Engler, Silvya Stuchi SS; Bishop, D Timothy DT; Newton-Bishop, Julia J; Adams, David J DJ
Publication Date: 2022-10-11
Variant appearance in text: SMARCA4: 2933G>A; R978Q
Integrating de novo and inherited variants in 42,607 autism cases identifies mutations in new moderate-risk genes.
Nature Genetics
Zhou, Xueya X; Feliciano, Pamela P; Shu, Chang C; Wang, Tianyun T; Astrovskaya, Irina I; Hall, Jacob B JB; Obiajulu, Joseph U JU; Wright, Jessica R JR; Murali, Shwetha C SC; Xu, Simon Xuming SX; Brueggeman, Leo L; Thomas, Taylor R TR; Marchenko, Olena O; Fleisch, Christopher C; Barns, Sarah D SD; Snyder, LeeAnne Green LG; Han, Bing B; Chang, Timothy S TS; Turner, Tychele N TN; Harvey, William T WT; Nishida, Andrew A; O'Roak, Brian J BJ; Geschwind, Daniel H DH; , ; Michaelson, Jacob J JJ; Volfovsky, Natalia N; Eichler, Evan E EE; Shen, Yufeng Y; Chung, Wendy K WK
Publication Date: 2022-09
Variant appearance in text: SMARCA4: 2933G>A; R978Q
Genomic Alterations Identification and Resistance Mechanisms Exploration of NSCLC With Central Nervous System Metastases Using Liquid Biopsy of Cerebrospinal Fluid: A Real-World Study.
Frontiers In Oncology
Shen, Fangfang F; Liang, Naixin N; Fan, Zaiwen Z; Zhao, Min M; Kang, Jing J; Wang, Xifang X; Hu, Qun Q; Mu, Yongping Y; Wang, Kai K; Yuan, Mingming M; Chen, Rongrong R; Guo, Wei W; Dong, Guilan G; Zhao, Jun J; Bai, Jun J
Publication Date: 2022
Variant appearance in text: SMARCA4: 2933G>A; R978Q
JAK3 mutations and mitochondrial apoptosis resistance in T-cell acute lymphoblastic leukemia.
Leukemia
Bodaar, Kimberly K; Yamagata, Natsuko N; Barthe, Anais A; Landrigan, Jack J; Chonghaile, Triona Ni TN; Burns, Melissa M; Stevenson, Kristen E KE; Devidas, Meenakshi M; Loh, Mignon L ML; Hunger, Stephen P SP; Wood, Brent B; Silverman, Lewis B LB; Teachey, David T DT; Meijerink, Jules P JP; Letai, Anthony A; Gutierrez, Alejandro A
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.
Novel diagnostic DNA methylation episignatures expand and refine the epigenetic landscapes of Mendelian disorders.
Hgg Advances
Levy, Michael A MA; McConkey, Haley H; Kerkhof, Jennifer J; Barat-Houari, Mouna M; Bargiacchi, Sara S; Biamino, Elisa E; Bralo, María Palomares MP; Cappuccio, Gerarda G; Ciolfi, Andrea A; Clarke, Angus A; DuPont, Barbara R BR; Elting, Mariet W MW; Faivre, Laurence L; Fee, Timothy T; Fletcher, Robin S RS; Cherik, Florian F; Foroutan, Aidin A; Friez, Michael J MJ; Gervasini, Cristina C; Haghshenas, Sadegheh S; Hilton, Benjamin A BA; Jenkins, Zandra Z; Kaur, Simranpreet S; Lewis, Suzanne S; Louie, Raymond J RJ; Maitz, Silvia S; Milani, Donatella D; Morgan, Angela T AT; Oegema, Renske R; Østergaard, Elsebet E; Pallares, Nathalie Ruiz NR; Piccione, Maria M; Pizzi, Simone S; Plomp, Astrid S AS; Poulton, Cathryn C; Reilly, Jack J; Relator, Raissa R; Rius, Rocio R; Robertson, Stephen S; Rooney, Kathleen K; Rousseau, Justine J; Santen, Gijs W E GWE; Santos-Simarro, Fernando F; Schijns, Josephine J; Squeo, Gabriella Maria GM; St John, Miya M; Thauvin-Robinet, Christel C; Traficante, Giovanna G; van der Sluijs, Pleuntje J PJ; Vergano, Samantha A SA; Vos, Niels N; Walden, Kellie K KK; Azmanov, Dimitar D; Balci, Tugce T; Banka, Siddharth S; Gecz, Jozef J; Henneman, Peter P; Lee, Jennifer A JA; Mannens, Marcel M A M MMAM; Roscioli, Tony T; Siu, Victoria V; Amor, David J DJ; Baynam, Gareth G; Bend, Eric G EG; Boycott, Kym K; Brunetti-Pierri, Nicola N; Campeau, Philippe M PM; Christodoulou, John J; Dyment, David D; Esber, Natacha N; Fahrner, Jill A JA; Fleming, Mark D MD; Genevieve, David D; Kerrnohan, Kristin D KD; McNeill, Alisdair A; Menke, Leonie A LA; Merla, Giuseppe G; Prontera, Paolo P; Rockman-Greenberg, Cheryl C; Schwartz, Charles C; Skinner, Steven A SA; Stevenson, Roger E RE; Vitobello, Antonio A; Tartaglia, Marco M; Alders, Marielle M; Tedder, Matthew L ML; Sadikovic, Bekim B
Publication Date: 2022-01-13
Variant appearance in text: SMARCA4: 2933G>A; Arg978Gln
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
Clinical epigenomics: genome-wide DNA methylation analysis for the diagnosis of Mendelian disorders.
Genetics In Medicine : Official Journal Of The American College Of Medical Genetics
Sadikovic, Bekim B; Levy, Michael A MA; Kerkhof, Jennifer J; Aref-Eshghi, Erfan E; Schenkel, Laila L; Stuart, Alan A; McConkey, Haley H; Henneman, Peter P; Venema, Andrea A; Schwartz, Charles E CE; Stevenson, Roger E RE; Skinner, Steven A SA; DuPont, Barbara R BR; Fletcher, Robin S RS; Balci, Tugce B TB; Siu, Victoria Mok VM; Granadillo, Jorge L JL; Masters, Jennefer J; Kadour, Mike M; Friez, Michael J MJ; van Haelst, Mieke M MM; Mannens, Marcel M A M MMAM; Louie, Raymond J RJ; Lee, Jennifer A JA; Tedder, Matthew L ML; Alders, Marielle M
Publication Date: 2021-06
Variant appearance in text: SMARCA4: 2933G>A; Arg978Gln
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
Publication Date: 2020-12
Variant appearance in text: SMARCA4: 2933G>A; R978Q
Functional characterization of SMARCA4 variants identified by targeted exome-sequencing of 131,668 cancer patients.
Nature Communications
Fernando, Tharu M TM; Piskol, Robert R; Bainer, Russell R; Sokol, Ethan S ES; Trabucco, Sally E SE; Zhang, Qing Q; Trinh, Huong H; Maund, Sophia S; Kschonsak, Marc M; Chaudhuri, Subhra S; Modrusan, Zora Z; Januario, Thomas T; Yauch, Robert L RL
Genetic markers and phosphoprotein forms of beta-catenin pβ-Cat552 and pβ-Cat675 are prognostic biomarkers of cervical cancer.
Ebiomedicine
Scholl, Suzy M SM; Beal, Jonas J; de Koning, Leanne L; Girard, Elodie E; Popovic, Marina M; de la Rochefordière, Anne A; Lecuru, Fabrice F; Fourchotte, Virginie V; Ngo, Charlotte C; Floquet, Anne A; Berns, Els Mjj EM; Kenter, Gemma G; Gestraud, Pierre P; von der Leyen, Heiko H; Lecerf, Charlotte C; Puard, Vincent V; Roman, Sergio Roman SR; Latouche, Aurelien A; Kereszt, Attila A; Balint, Balazs B; Rouzier, Roman R; Kamal, Maud M
Publication Date: 2020-11
Variant appearance in text: SMARCA4: 2933G>A; R978Q
A model combining clinical and genomic factors to predict response to PD-1/PD-L1 blockade in advanced urothelial carcinoma.
British Journal Of Cancer
Nassar, Amin H AH; Mouw, Kent W KW; Jegede, Opeyemi O; Shinagare, Atul B AB; Kim, Jaegil J; Liu, Chia-Jen CJ; Pomerantz, Mark M; Harshman, Lauren C LC; Van Allen, Eliezer M EM; Wei, Xiao X XX; McGregor, Bradley B; Choudhury, Atish D AD; Preston, Mark A MA; Dong, Fei F; Signoretti, Sabina S; Lindeman, Neal I NI; Bellmunt, Joaquim J; Choueiri, Toni K TK; Sonpavde, Guru G; Kwiatkowski, David J DJ
Publication Date: 2020-02
Variant appearance in text: SMARCA4: 2933G>A; R978Q
PRC2 loss induces chemoresistance by repressing apoptosis in T cell acute lymphoblastic leukemia.
The Journal Of Experimental Medicine
Ariës, Ingrid M IM; Bodaar, Kimberly K; Karim, Salmaan A SA; Chonghaile, Triona Ni TN; Hinze, Laura L; Burns, Melissa A MA; Pfirrmann, Maren M; Degar, James J; Landrigan, Jack T JT; Balbach, Sebastian S; Peirs, Sofie S; Menten, Björn B; Isenhart, Randi R; Stevenson, Kristen E KE; Neuberg, Donna S DS; Devidas, Meenakshi M; Loh, Mignon L ML; Hunger, Stephen P SP; Teachey, David T DT; Rabin, Karen R KR; Winter, Stuart S SS; Dunsmore, Kimberly P KP; Wood, Brent L BL; Silverman, Lewis B LB; Sallan, Stephen E SE; Van Vlierberghe, Pieter P; Orkin, Stuart H SH; Knoechel, Birgit B; Letai, Anthony G AG; Gutierrez, Alejandro A
The Cancer Genome Atlas Comprehensive Molecular Characterization of Renal Cell Carcinoma.
Cell Reports
Ricketts, Christopher J CJ; De Cubas, Aguirre A AA; Fan, Huihui H; Smith, Christof C CC; Lang, Martin M; Reznik, Ed E; Bowlby, Reanne R; Gibb, Ewan A EA; Akbani, Rehan R; Beroukhim, Rameen R; Bottaro, Donald P DP; Choueiri, Toni K TK; Gibbs, Richard A RA; Godwin, Andrew K AK; Haake, Scott S; Hakimi, A Ari AA; Henske, Elizabeth P EP; Hsieh, James J JJ; Ho, Thai H TH; Kanchi, Rupa S RS; Krishnan, Bhavani B; Kwiatkowski, David J DJ; Lui, Wembin W; Merino, Maria J MJ; Mills, Gordon B GB; Myers, Jerome J; Nickerson, Michael L ML; Reuter, Victor E VE; Schmidt, Laura S LS; Shelley, C Simon CS; Shen, Hui H; Shuch, Brian B; Signoretti, Sabina S; Srinivasan, Ramaprasad R; Tamboli, Pheroze P; Thomas, George G; Vincent, Benjamin G BG; Vocke, Cathy D CD; Wheeler, David A DA; Yang, Lixing L; Kim, William Y WY; Robertson, A Gordon AG; , ; Spellman, Paul T PT; Rathmell, W Kimryn WK; Linehan, W Marston WM
Publication Date: 2018-04-03
Variant appearance in text: SMARCA4: 2933G>A; Arg978Gln
Pan-urologic cancer genomic subtypes that transcend tissue of origin.
Nature Communications
Chen, Fengju F; Zhang, Yiqun Y; Bossé, Dominick D; Lalani, Aly-Khan A AA; Hakimi, A Ari AA; Hsieh, James J JJ; Choueiri, Toni K TK; Gibbons, Don L DL; Ittmann, Michael M; Creighton, Chad J CJ
NF1-mutated melanoma tumors harbor distinct clinical and biological characteristics.
Molecular Oncology
Cirenajwis, Helena H; Lauss, Martin M; Ekedahl, Henrik H; Törngren, Therese T; Kvist, Anders A; Saal, Lao H LH; Olsson, Håkan H; Staaf, Johan J; Carneiro, Ana A; Ingvar, Christian C; Harbst, Katja K; Hayward, Nicholas K NK; Jönsson, Göran G
Publication Date: 2017-04
Variant appearance in text: SMARCA4: 2933G>A; R978Q
Co-existence of BRAF and NRAS driver mutations in the same melanoma cells results in heterogeneity of targeted therapy resistance.
Oncotarget
Raaijmakers, Marieke I G MI; Widmer, Daniel S DS; Narechania, Apurva A; Eichhoff, Ossia O; Freiberger, Sandra N SN; Wenzina, Judith J; Cheng, Phil F PF; Mihic-Probst, Daniela D; Desalle, Rob R; Dummer, Reinhard R; Levesque, Mitchell P MP