Genomic profiling of idiopathic peri-hilar cholangiocarcinoma reveals new targets and mutational pathways.
Scientific Reports
Quinn, Leonard M LM; Haldenby, Sam S; Antzcak, Philip P; Fowler, Anna A; Bullock, Katie K; Kenny, John J; Gilbert, Timothy T; Andrews, Timothy T; Diaz-Nieto, Rafael R; Fenwick, Stephen S; Jones, Robert R; Costello-Goldring, Eithne E; Poston, Graeme G; Greenhalf, William W; Palmer, Daniel D; Malik, Hassan H; Goldring, Chris C
Evaluating the prognostic significance of p53 and TP53 mutations in HPV-negative hypopharyngeal carcinoma patients: a 5-year follow-up retrospective study.
Bmc Cancer
Huang, Qiang Q; Li, Feiran F; Ji, Mengyou M; Lin, Lan L; Hu, Chunyan C
Efficacy and clinicogenomic correlates of response to immune checkpoint inhibitors alone or with chemotherapy in non-small cell lung cancer.
Nature Communications
Hong, Lingzhi L; Aminu, Muhammad M; Li, Shenduo S; Lu, Xuetao X; Petranovic, Milena M; Saad, Maliazurina B MB; Chen, Pingjun P; Qin, Kang K; Varghese, Susan S; Rinsurongkawong, Waree W; Rinsurongkawong, Vadeerat V; Spelman, Amy A; Elamin, Yasir Y YY; Negrao, Marcelo V MV; Skoulidis, Ferdinandos F; Gay, Carl M CM; Cascone, Tina T; Gandhi, Saumil J SJ; Lin, Steven H SH; Lee, Percy P PP; Carter, Brett W BW; Wu, Carol C CC; Antonoff, Mara B MB; Sepesi, Boris B; Lewis, Jeff J; Gibbons, Don L DL; Vaporciyan, Ara A AA; Le, Xiuning X; Jack Lee, J J; Roy-Chowdhuri, Sinchita S; Routbort, Mark J MJ; Gainor, Justin F JF; Heymach, John V JV; Lou, Yanyan Y; Wu, Jia J; Zhang, Jianjun J; Vokes, Natalie I NI
ESR1 gene amplification and MAP3K mutations are selected during adjuvant endocrine therapies in relapsing Hormone Receptor-positive, HER2-negative breast cancer (HR+ HER2- BC).
Plos Genetics
Ferrando, Lorenzo L; Vingiani, Andrea A; Garuti, Anna A; Vernieri, Claudio C; Belfiore, Antonino A; Agnelli, Luca L; Dagrada, Gianpaolo G; Ivanoiu, Diana D; Bonizzi, Giuseppina G; Munzone, Elisabetta E; Lippolis, Luana L; Dameri, Martina M; Ravera, Francesco F; Colleoni, Marco M; Viale, Giuseppe G; Magnani, Luca L; Ballestrero, Alberto A; Zoppoli, Gabriele G; Pruneri, Giancarlo G
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
Clonal hematopoiesis of indeterminate potential and risk of death from COVID-19.
Blood
Miller, Peter G PG; Fell, Geoffrey G GG; Foy, Brody H BH; Scherer, Allison K AK; Gibson, Christopher J CJ; Sperling, Adam S AS; Burugula, Bala B BB; Nakao, Tetsushi T; Uddin, Md M MM; Warren, Hailey H; Bry, Lynn L; Pozdnyakova, Olga O; Frigault, Matthew J MJ; Bick, Alex G AG; Neuberg, Donna D; Higgins, John M JM; Mansour, Michael K MK; Natarajan, Pradeep P; Kim, Annette S AS; Kitzman, Jacob O JO; Ebert, Benjamin L BL
Genome-wide analyses of 200,453 individuals yield new insights into the causes and consequences of clonal hematopoiesis.
Nature Genetics
Kar, Siddhartha P SP; Quiros, Pedro M PM; Gu, Muxin M; Jiang, Tao T; Mitchell, Jonathan J; Langdon, Ryan R; Iyer, Vivek V; Barcena, Clea C; Vijayabaskar, M S MS; Fabre, Margarete A MA; Carter, Paul P; Petrovski, Slavé S; Burgess, Stephen S; Vassiliou, George S GS
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
Clinical genomic profiling in the management of patients with soft tissue and bone sarcoma.
Nature Communications
Gounder, Mrinal M MM; Agaram, Narasimhan P NP; Trabucco, Sally E SE; Robinson, Victoria V; Ferraro, Richard A RA; Millis, Sherri Z SZ; Krishnan, Anita A; Lee, Jessica J; Attia, Steven S; Abida, Wassim W; Drilon, Alexander A; Chi, Ping P; Angelo, Sandra P D' SP; Dickson, Mark A MA; Keohan, Mary Lou ML; Kelly, Ciara M CM; Agulnik, Mark M; Chawla, Sant P SP; Choy, Edwin E; Chugh, Rashmi R; Meyer, Christian F CF; Myer, Parvathi A PA; Moore, Jessica L JL; Okimoto, Ross A RA; Pollock, Raphael E RE; Ravi, Vinod V; Singh, Arun S AS; Somaiah, Neeta N; Wagner, Andrew J AJ; Healey, John H JH; Frampton, Garrett M GM; Venstrom, Jeffrey M JM; Ross, Jeffrey S JS; Ladanyi, Marc M; Singer, Samuel S; Brennan, Murray F MF; Schwartz, Gary K GK; Lazar, Alexander J AJ; Thomas, David M DM; Maki, Robert G RG; Tap, William D WD; Ali, Siraj M SM; Jin, Dexter X DX
Pathophysiologic and clinical implications of molecular profiles resultant from deletion 5q.
Ebiomedicine
Adema, Vera V; Palomo, Laura L; Walter, Wencke W; Mallo, Mar M; Hutter, Stephan S; La Framboise, Thomas T; Arenillas, Leonor L; Meggendorfer, Manja M; Radivoyevitch, Tomas T; Xicoy, Blanca B; Pellagatti, Andrea A; Haferlach, Claudia C; Boultwood, Jacqueline J; Kern, Wolfgang W; Visconte, Valeria V; Sekeres, Mikkael M; Barnard, John J; Haferlach, Torsten T; Solé, Francesc F; Maciejewski, Jaroslaw P JP
Publication Date: 2022-06
Variant appearance in text: TP53: 530C>T; Pro177Leu
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.
Somatic whole genome dynamics of precancer in Barrett's esophagus reveals features associated with disease progression.
Nature Communications
Paulson, Thomas G TG; Galipeau, Patricia C PC; Oman, Kenji M KM; Sanchez, Carissa A CA; Kuhner, Mary K MK; Smith, Lucian P LP; Hadi, Kevin K; Shah, Minita M; Arora, Kanika K; Shelton, Jennifer J; Johnson, Molly M; Corvelo, Andre A; Maley, Carlo C CC; Yao, Xiaotong X; Sanghvi, Rashesh R; Venturini, Elisa E; Emde, Anne-Katrin AK; Hubert, Benjamin B; Imielinski, Marcin M; Robine, Nicolas N; Reid, Brian J BJ; Li, Xiaohong X
Publication Date: 2022-04-28
Variant appearance in text: TP53: 530C>T; Pro177Leu
Characterization of disease-propagating stem cells responsible for myeloproliferative neoplasm-blast phase.
Jci Insight
Wang, Xiaoli X; Rampal, Raajit K RK; Hu, Cing Siang CS; Tripodi, Joseph J; Farnoud, Noushin N; Petersen, Bruce B; Rossi, Michael R MR; Patel, Minal M; McGovern, Erin E; Najfeld, Vesna V; Iancu-Rubin, Camelia C; Lu, Min M; Davis, Andrew A; Kremyanskaya, Marina M; Weinberg, Rona Singer RS; Mascarenhas, John J; Hoffman, Ronald R
The clinical significance of adenomatous polyposis coli (APC) and catenin Beta 1 (CTNNB1) genetic aberrations in patients with melanoma.
Bmc Cancer
Karachaliou, Georgia Sofia GS; Alkallas, Rached R; Carroll, Sarah B SB; Caressi, Chongshan C; Zakria, Danny D; Patel, Nirali M NM; Trembath, Dimitri G DG; Ezzell, Jennifer A JA; Pegna, Guillaume J GJ; Googe, Paul B PB; Galeotti, Jonathan P JP; Ayvali, Fatih F; Collichio, Frances A FA; Lee, Carrie B CB; Ollila, David W DW; Gulley, Margaret L ML; Johnson, Douglas B DB; Kim, Kevin B KB; Watson, Ian R IR; Moschos, Stergios J SJ
The clinical significance of adenomatous polyposis coli (APC) and catenin Beta 1 (CTNNB1) genetic aberrations in patients with melanoma.
Bmc Cancer
Karachaliou, Georgia Sofia GS; Alkallas, Rached R; Carroll, Sarah B SB; Caressi, Chongshan C; Zakria, Danny D; Patel, Nirali M NM; Trembath, Dimitri G DG; Ezzell, Jennifer A JA; Pegna, Guillaume J GJ; Googe, Paul B PB; Galeotti, Jonathan P JP; Ayvali, Fatih F; Collichio, Frances A FA; Lee, Carrie B CB; Ollila, David W DW; Gulley, Margaret L ML; Johnson, Douglas B DB; Kim, Kevin B KB; Watson, Ian R IR; Moschos, Stergios J SJ
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
Physician-directed genetic screening to evaluate personal risk for medically actionable disorders: a large multi-center cohort study.
Bmc Medicine
Haverfield, Eden V EV; Esplin, Edward D ED; Aguilar, Sienna J SJ; Hatchell, Kathryn E KE; Ormond, Kelly E KE; Hanson-Kahn, Andrea A; Atwal, Paldeep S PS; Macklin-Mantia, Sarah S; Hines, Stephanie S; Sak, Caron W-M CW; Tucker, Steven S; Bleyl, Steven B SB; Hulick, Peter J PJ; Gordon, Ora K OK; Velsher, Lea L; Gu, Jessica Y J JYJ; Weissman, Scott M SM; Kruisselbrink, Teresa T; Abel, Christopher C; Kettles, Michele M; Slavotinek, Anne A; Mendelsohn, Bryce A BA; Green, Robert C RC; Aradhya, Swaroop S; Nussbaum, Robert L RL
Publication Date: 2021-08-18
Variant appearance in text: TP53: 530C>T; Pro177Leu
Comparison of two targeted ultra-deep sequencing technologies for analysis of plasma circulating tumour DNA in endocrine-therapy-resistant breast cancer patients.
Breast Cancer Research And Treatment
Nteliopoulos, Georgios G; Page, Karen K; Hills, Allison A; Howarth, Karen K; Emmett, Warren W; Green, Emma E; Martinson, Luke J LJ; Fernadez-Garcia, Daniel D; Hastings, Robert R; Guttery, David S DS; Kenny, Laura L; Stebbing, Justin J; Cleator, Susan S; Rehman, Farah F; Gleason, Kelly L T KLT; Sanela, Andrijac A; Ion, Charlotte C; Rushton, Amelia J AJ; Rosenfeld, Nitzan N; Coombes, R Charles RC; Shaw, Jacqueline A JA
Spatially interacting phosphorylation sites and mutations in cancer.
Nature Communications
Huang, Kuan-Lin KL; Scott, Adam D AD; Zhou, Daniel Cui DC; Wang, Liang-Bo LB; Weerasinghe, Amila A; Elmas, Abdulkadir A; Liu, Ruiyang R; Wu, Yige Y; Wendl, Michael C MC; Wyczalkowski, Matthew A MA; Baral, Jessika J; Sengupta, Sohini S; Lai, Chin-Wen CW; Ruggles, Kelly K; Payne, Samuel H SH; Raphael, Benjamin B; Fenyö, David D; Chen, Ken K; Mills, Gordon G; Ding, Li L
A genetically defined signature of responsiveness to erlotinib in early-stage pancreatic cancer patients: Results from the CONKO-005 trial.
Ebiomedicine
Hoyer, K K; Hablesreiter, R R; Inoue, Y Y; Yoshida, K K; Briest, F F; Christen, F F; Kakiuchi, N N; Yoshizato, T T; Shiozawa, Y Y; Shiraishi, Y Y; Striefler, J K JK; Bischoff, S S; Lohneis, P P; Putter, H H; Blau, O O; Keilholz, U U; Bullinger, L L; Pelzer, U U; Hummel, M M; Riess, H H; Ogawa, S S; Sinn, M M; Damm, F F
Role of next generation sequencing-based liquid biopsy in advanced non-small cell lung cancer patients treated with immune checkpoint inhibitors: impact of STK11, KRAS and TP53 mutations and co-mutations on outcome.
Translational Lung Cancer Research
Pavan, Alberto A; Bragadin, Andrea Boscolo AB; Calvetti, Lorenzo L; Ferro, Alessandra A; Zulato, Elisabetta E; Attili, Ilaria I; Nardo, Giorgia G; Dal Maso, Alessandro A; Frega, Stefano S; Menin, Andrea Giovanni AG; Fassan, Matteo M; Calabrese, Fiorella F; Pasello, Giulia G; Guarneri, Valentina V; Aprile, Giuseppe G; Conte, PierFranco P; Rosell, Rafael R; Indraccolo, Stefano S; Bonanno, Laura L
Molecular characterization of ulcerative colitis-associated colorectal carcinomas.
Modern Pathology : An Official Journal Of The United States And Canadian Academy Of Pathology, Inc
Hirsch, Daniela D; Hardt, Julia J; Sauer, Christian C; Heselmeyer-Hadded, Kerstin K; Witt, Stephanie H SH; Kienle, Peter P; Ried, Thomas T; Gaiser, Timo T
Molecular characterization of ulcerative colitis-associated colorectal carcinomas.
Modern Pathology : An Official Journal Of The United States And Canadian Academy Of Pathology, Inc
Hirsch, Daniela D; Hardt, Julia J; Sauer, Christian C; Heselmeyer-Hadded, Kerstin K; Witt, Stephanie H SH; Kienle, Peter P; Ried, Thomas T; Gaiser, Timo T
Predictive Biomarkers for Immune Checkpoint Inhibitors in Metastatic Breast Cancer.
Cancer Medicine
Sivapiragasam, Abirami A; Ashok Kumar, Prashanth P; Sokol, Ethan S ES; Albacker, Lee A LA; Killian, Jonathan K JK; Ramkissoon, Shakti H SH; Huang, Richard S P RSP; Severson, Eric A EA; Brown, Charlotte A CA; Danziger, Natalie N; McGregor, Kimberly K; Ross, Jeffrey S JS
Identification and functional characterization of new missense SNPs in the coding region of the TP53 gene.
Cell Death And Differentiation
Doffe, Flora F; Carbonnier, Vincent V; Tissier, Manon M; Leroy, Bernard B; Martins, Isabelle I; Mattsson, Johanna S M JSM; Micke, Patrick P; Pavlova, Sarka S; Pospisilova, Sarka S; Smardova, Jana J; Joerger, Andreas C AC; Wiman, Klas G KG; Kroemer, Guido G; Soussi, Thierry T
Identification and functional characterization of new missense SNPs in the coding region of the TP53 gene.
Cell Death And Differentiation
Doffe, Flora F; Carbonnier, Vincent V; Tissier, Manon M; Leroy, Bernard B; Martins, Isabelle I; Mattsson, Johanna S M JSM; Micke, Patrick P; Pavlova, Sarka S; Pospisilova, Sarka S; Smardova, Jana J; Joerger, Andreas C AC; Wiman, Klas G KG; Kroemer, Guido G; Soussi, Thierry T
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 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
Spitz melanoma is a distinct subset of spitzoid melanoma.
Modern Pathology : An Official Journal Of The United States And Canadian Academy Of Pathology, Inc
Raghavan, Shyam S SS; Peternel, Sandra S; Mully, Thaddeus W TW; North, Jeffrey P JP; Pincus, Laura B LB; LeBoit, Philip E PE; McCalmont, Timothy H TH; Bastian, Boris C BC; Yeh, Iwei I
From uncertainty to pathogenicity: clinical and functional interrogation of a rare TP53 in-frame deletion.
Cold Spring Harbor Molecular Case Studies
Quinn, Emily A EA; Maciaszek, Jamie L JL; Pinto, Emilia M EM; Phillips, Aaron H AH; Berdy, David D; Khandwala, Mohammad M; Upadhyaya, Santhosh A SA; Zambetti, Gerard P GP; Kriwacki, Richard W RW; Ellison, David W DW; Nichols, Kim E KE; Kesserwan, Chimene C
Publication Date: 2019-08
Variant appearance in text: TP53: 530C>T; Pro177Leu
Molecular characterization of low grade and high grade bladder cancer.
Plos One
Apollo, Alessandro A; Ortenzi, Valerio V; Scatena, Cristian C; Zavaglia, Katia K; Aretini, Paolo P; Lessi, Francesca F; Franceschi, Sara S; Tomei, Sara S; Sepich, Carlo Alberto CA; Viacava, Paolo P; Mazzanti, Chiara Maria CM; Naccarato, Antonio Giuseppe AG
Advantage of Next-Generation Sequencing in Dynamic Monitoring of Circulating Tumor DNA over Droplet Digital PCR in Cetuximab Treated Colorectal Cancer Patients.
Translational Oncology
Zhang, Hangyu H; Liu, Rujiao R; Yan, Cong C; Liu, Lulu L; Tong, Zhou Z; Jiang, Weiqin W; Yao, Ming M; Fang, Weijia W; Chen, Zhiyu Z
Deep targeted sequencing of TP53 in chronic lymphocytic leukemia: clinical impact at diagnosis and at time of treatment.
Haematologica
Brieghel, Christian C; Kinalis, Savvas S; Yde, Christina W CW; Schmidt, Ane Y AY; Jønson, Lars L; Andersen, Michael A MA; da Cunha-Bang, Caspar C; Pedersen, Lone B LB; Geisler, Christian H CH; Nielsen, Finn C FC; Niemann, Carsten U CU
Variable population prevalence estimates of germline TP53 variants: A gnomAD-based analysis.
Human Mutation
de Andrade, Kelvin C KC; Frone, Megan N MN; Wegman-Ostrosky, Talia T; Khincha, Payal P PP; Kim, Jung J; Amadou, Amina A; Santiago, Karina M KM; Fortes, Fernanda P FP; Lemonnier, Nathanaël N; Mirabello, Lisa L; Stewart, Douglas R DR; Hainaut, Pierre P; Kowalski, Luiz P LP; Savage, Sharon A SA; Achatz, Maria I MI
Dynamics of multiple resistance mechanisms in plasma DNA during EGFR-targeted therapies in non-small cell lung cancer.
Embo Molecular Medicine
Tsui, Dana Wai Yi DWY; Murtaza, Muhammed M; Wong, Alvin Seng Cheong ASC; Rueda, Oscar M OM; Smith, Christopher G CG; Chandrananda, Dineika D; Soo, Ross A RA; Lim, Hong Liang HL; Goh, Boon Cher BC; Caldas, Carlos C; Forshew, Tim T; Gale, Davina D; Liu, Wei W; Morris, James J; Marass, Francesco F; Eisen, Tim T; Chin, Tan Min TM; Rosenfeld, Nitzan N
RGS7 is recurrently mutated in melanoma and promotes migration and invasion of human cancer cells.
Scientific Reports
Qutob, Nouar N; Masuho, Ikuo I; Alon, Michal M; Emmanuel, Rafi R; Cohen, Isadora I; Di Pizio, Antonella A; Madore, Jason J; Elkahloun, Abdel A; Ziv, Tamar T; Levy, Ronen R; Gartner, Jared J JJ; Hill, Victoria K VK; Lin, Jimmy C JC; Hevroni, Yael Y; Greenberg, Polina P; Brodezki, Alexandra A; Rosenberg, Steven A SA; Kosloff, Mickey M; Hayward, Nicholas K NK; Admon, Arie A; Niv, Masha Y MY; Scolyer, Richard A RA; Martemyanov, Kirill A KA; Samuels, Yardena Y
Copy number variations in atypical fibroxanthomas and pleomorphic dermal sarcomas.
Oncotarget
Helbig, Doris D; Quaas, Alexander A; Mauch, Cornelia C; Merkelbach-Bruse, Sabine S; Büttner, Reinhard R; Emberger, Michael M; Wobser, Marion M; Rüsseler, Vanessa V; Pütz, Katharina K; Binot, Elke E; Rehker, Jan J; Budczies, Jan J; Ihle, Michaela Angelika MA