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: TP53: 770T>G; Leu257Arg
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
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.
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
Multi-omic machine learning predictor of breast cancer therapy response.
Nature
Sammut, Stephen-John SJ; Crispin-Ortuzar, Mireia M; Chin, Suet-Feung SF; Provenzano, Elena E; Bardwell, Helen A HA; Ma, Wenxin W; Cope, Wei W; Dariush, Ali A; Dawson, Sarah-Jane SJ; Abraham, Jean E JE; Dunn, Janet J; Hiller, Louise L; Thomas, Jeremy J; Cameron, David A DA; Bartlett, John M S JMS; Hayward, Larry L; Pharoah, Paul D PD; Markowetz, Florian F; Rueda, Oscar M OM; Earl, Helena M HM; Caldas, Carlos C
Metabolic Plasticity and Combinatorial Radiosensitisation Strategies in Human Papillomavirus-Positive Squamous Cell Carcinoma of the Head and Neck Cell Lines.
Cancers
Wilkie, Mark D MD; Anaam, Emad A EA; Lau, Andrew S AS; Rubbi, Carlos P CP; Vlatkovic, Nikolina N; Jones, Terence M TM; Boyd, Mark T MT
CDKN2A loss-of-function predicts immunotherapy resistance in non-small cell lung cancer.
Scientific Reports
Gutiontov, Stanley I SI; Turchan, William Tyler WT; Spurr, Liam F LF; Rouhani, Sherin J SJ; Chervin, Carolina Soto CS; Steinhardt, George G; Lager, Angela M AM; Wanjari, Pankhuri P; Malik, Renuka R; Connell, Philip P PP; Chmura, Steven J SJ; Juloori, Aditya A; Hoffman, Philip C PC; Ferguson, Mark K MK; Donington, Jessica S JS; Patel, Jyoti D JD; Vokes, Everett E EE; Weichselbaum, Ralph R RR; Bestvina, Christine M CM; Segal, Jeremy P JP; Pitroda, Sean P SP
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
Comprehensive omic characterization of breast cancer in Mexican-Hispanic women.
Nature Communications
Romero-Cordoba, Sandra L SL; Salido-Guadarrama, Ivan I; Rebollar-Vega, Rosa R; Bautista-Piña, Veronica V; Dominguez-Reyes, Carlos C; Tenorio-Torres, Alberto A; Villegas-Carlos, Felipe F; Fernández-López, Juan C JC; Uribe-Figueroa, Laura L; Alfaro-Ruiz, Luis L; Hidalgo-Miranda, Alfredo A
Partial Response to Pyrotinib Plus Capecitabine in an Advanced Breast Cancer Patient with HER2 Amplification and R157W Mutation After Anti-HER2 Treatment: A Case Report and Literature Review.
Distinct genetic pathways define pre-malignant versus compensatory clonal hematopoiesis in Shwachman-Diamond syndrome.
Nature Communications
Kennedy, Alyssa L AL; Myers, Kasiani C KC; Bowman, James J; Gibson, Christopher J CJ; Camarda, Nicholas D ND; Furutani, Elissa E; Muscato, Gwen M GM; Klein, Robert H RH; Ballotti, Kaitlyn K; Liu, Shanshan S; Harris, Chad E CE; Galvin, Ashley A; Malsch, Maggie M; Dale, David D; Gansner, John M JM; Nakano, Taizo A TA; Bertuch, Alison A; Vlachos, Adrianna A; Lipton, Jeffrey M JM; Castillo, Paul P; Connelly, James J; Churpek, Jane J; Edwards, John R JR; Hijiya, Nobuko N; Ho, Richard H RH; Hofmann, Inga I; Huang, James N JN; Keel, Siobán S; Lamble, Adam A; Lau, Bonnie W BW; Norkin, Maxim M; Stieglitz, Elliot E; Stock, Wendy W; Walkovich, Kelly K; Boettcher, Steffen S; Brendel, Christian C; Fleming, Mark D MD; Davies, Stella M SM; Weller, Edie A EA; Bahl, Christopher C; Carter, Scott L SL; Shimamura, Akiko A; Lindsley, R Coleman RC
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
Phase and context shape the function of composite oncogenic mutations.
Nature
Gorelick, Alexander N AN; Sánchez-Rivera, Francisco J FJ; Cai, Yanyan Y; Bielski, Craig M CM; Biederstedt, Evan E; Jonsson, Philip P; Richards, Allison L AL; Vasan, Neil N; Penson, Alexander V AV; Friedman, Noah D ND; Ho, Yu-Jui YJ; Baslan, Timour T; Bandlamudi, Chaitanya C; Scaltriti, Maurizio M; Schultz, Nikolaus N; Lowe, Scott W SW; Reznik, Ed E; Taylor, Barry S BS
Criteria of the German Consortium for Hereditary Breast and Ovarian Cancer for the Classification of Germline Sequence Variants in Risk Genes for Hereditary Breast and Ovarian Cancer.
Geburtshilfe Und Frauenheilkunde
Wappenschmidt, Barbara B; Hauke, Jan J; Faust, Ulrike U; Niederacher, Dieter D; Wiesmüller, Lisa L; Schmidt, Gunnar G; Groß, Evi E; Gehrig, Andrea A; Sutter, Christian C; Ramser, Juliane J; Rump, Andreas A; Arnold, Norbert N; Meindl, Alfons A
Clinical Impact of Somatic Variants in Homologous Recombination Repair-Related Genes in Ovarian High-Grade Serous Carcinoma.
Cancer Research And Treatment
Choi, Min Chul MC; Hwang, Sohyun S; Kim, Sewha S; Jung, Sang Geun SG; Park, Hyun H; Joo, Won Duk WD; Song, Seung Hun SH; Lee, Chan C; Kim, Tae-Heon TH; Kang, Haeyoun H; An, Hee Jung HJ
Publication Date: 2020-04
Variant appearance in text: TP53: 770T>G; Leu257Arg
Recurrent PTPRT/JAK2 mutations in lung adenocarcinoma among African Americans.
Nature Communications
Mitchell, Khadijah A KA; Nichols, Noah N; Tang, Wei W; Walling, Jennifer J; Stevenson, Holly H; Pineda, Marbin M; Stefanescu, Roxana R; Edelman, Daniel C DC; Girvin, Andrew T AT; Zingone, Adriana A; Sinha, Sanju S; Bowman, Elise E; Rossi, Emily L EL; Arauz, Rony F RF; Jack Zhu, Yuelin Y; Lack, Justin J; Weingartner, Elizabeth E; Waterfall, Joshua J JJ; Pine, Sharon R SR; Simmons, John J; Meltzer, Paul P; Ryan, Bríd M BM
Comparison of different semi-automated cfDNA extraction methods in combination with UMI-based targeted sequencing.
Oncotarget
Streubel, Anna A; Stenzinger, Albrecht A; Stephan-Falkenau, Susann S; Kollmeier, Jens J; Misch, Daniel D; Blum, Torsten Gerriet TG; Bauer, Torsten T; Landt, Olfert O; Am Ende, Alexander A; Schirmacher, Peter P; Mairinger, Thomas T; Endris, Volker V
REVEL and BayesDel outperform other in silico meta-predictors for clinical variant classification.
Scientific Reports
Tian, Yuan Y; Pesaran, Tina T; Chamberlin, Adam A; Fenwick, R Bryn RB; Li, Shuwei S; Gau, Chia-Ling CL; Chao, Elizabeth C EC; Lu, Hsiao-Mei HM; Black, Mary Helen MH; Qian, Dajun D
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: 770T>G; Leu257Arg
Genomic and Transcriptomic Characterization Links Cell Lines with Aggressive Head and Neck Cancers.
Cell Reports
Cheng, Hui H; Yang, Xinping X; Si, Han H; Saleh, Anthony D AD; Xiao, Wenming W; Coupar, Jamie J; Gollin, Susanne M SM; Ferris, Robert L RL; Issaeva, Natalia N; Yarbrough, Wendell G WG; Prince, Mark E ME; Carey, Thomas E TE; Van Waes, Carter C; Chen, Zhong Z
A Bayesian framework for efficient and accurate variant prediction.
Plos One
Qian, Dajun D; Li, Shuwei S; Tian, Yuan Y; Clifford, Jacob W JW; Sarver, Brice A J BAJ; Pesaran, Tina T; Gau, Chia-Ling CL; Elliott, Aaron M AM; Lu, Hsiao-Mei HM; Black, Mary Helen MH
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
Integrative genomic and transcriptomic analysis of leiomyosarcoma.
Nature Communications
Chudasama, Priya P; Mughal, Sadaf S SS; Sanders, Mathijs A MA; Hübschmann, Daniel D; Chung, Inn I; Deeg, Katharina I KI; Wong, Siao-Han SH; Rabe, Sophie S; Hlevnjak, Mario M; Zapatka, Marc M; Ernst, Aurélie A; Kleinheinz, Kortine K; Schlesner, Matthias M; Sieverling, Lina L; Klink, Barbara B; Schröck, Evelin E; Hoogenboezem, Remco M RM; Kasper, Bernd B; Heilig, Christoph E CE; Egerer, Gerlinde G; Wolf, Stephan S; von Kalle, Christof C; Eils, Roland R; Stenzinger, Albrecht A; Weichert, Wilko W; Glimm, Hanno H; Gröschel, Stefan S; Kopp, Hans-Georg HG; Omlor, Georg G; Lehner, Burkhard B; Bauer, Sebastian S; Schimmack, Simon S; Ulrich, Alexis A; Mechtersheimer, Gunhild G; Rippe, Karsten K; Brors, Benedikt B; Hutter, Barbara B; Renner, Marcus M; Hohenberger, Peter P; Scholl, Claudia C; Fröhling, Stefan S
Characterizing temporal genomic heterogeneity in pediatric high-grade gliomas.
Acta Neuropathologica Communications
Salloum, Ralph R; McConechy, Melissa K MK; Mikael, Leonie G LG; Fuller, Christine C; Drissi, Rachid R; DeWire, Mariko M; Nikbakht, Hamid H; De Jay, Nicolas N; Yang, Xiaodan X; Boue, Daniel D; Chow, Lionel M L LML; Finlay, Jonathan L JL; Gayden, Tenzin T; Karamchandani, Jason J; Hummel, Trent R TR; Olshefski, Randal R; Osorio, Diana S DS; Stevenson, Charles C; Kleinman, Claudia L CL; Majewski, Jacek J; Fouladi, Maryam M; Jabado, Nada N
Targeted exome sequencing of Korean triple-negative breast cancer reveals homozygous deletions associated with poor prognosis of adjuvant chemotherapy-treated patients.
Oncotarget
Jeong, Hae Min HM; Kim, Ryong Nam RN; Kwon, Mi Jeong MJ; Oh, Ensel E; Han, Jinil J; Lee, Se Kyung SK; Choi, Jong-Sun JS; Park, Sara S; Nam, Seok Jin SJ; Gong, Gyung Yup GY; Nam, Jin Wu JW; Choi, Doo Ho DH; Lee, Hannah H; Nam, Byung-Ho BH; Choi, Yoon-La YL; Shin, Young Kee YK
High-Risk HPV, Biomarkers, and Outcome in Matched Cohorts of Head and Neck Cancer Patients Positive and Negative for HIV.
Molecular Cancer Research : Mcr
Walline, Heather M HM; Carey, Thomas E TE; Goudsmit, Christine M CM; Bellile, Emily L EL; D'Souza, Gypsyamber G; Peterson, Lisa A LA; McHugh, Jonathan B JB; Pai, Sara I SI; Lee, J Jack JJ; Shin, Dong M DM; Ferris, Robert L RL; ,
Integrative genomic and functional analysis of human oral squamous cell carcinoma cell lines reveals synergistic effects of FAT1 and CASP8 inactivation.
Cancer Letters
Hayes, Tyler F TF; Benaich, Nathan N; Goldie, Stephen J SJ; Sipilä, Kalle K; Ames-Draycott, Ashley A; Cai, Wenjun W; Yin, Guangliang G; Watt, Fiona M FM
Clonal evolution in relapsed and refractory diffuse large B-cell lymphoma is characterized by high dynamics of subclones.
Oncotarget
Melchardt, Thomas T; Hufnagl, Clemens C; Weinstock, David M DM; Kopp, Nadja N; Neureiter, Daniel D; Tränkenschuh, Wolfgang W; Hackl, Hubert H; Weiss, Lukas L; Rinnerthaler, Gabriel G; Hartmann, Tanja N TN; Greil, Richard R; Weigert, Oliver O; Egle, Alexander A
Exome sequencing of osteosarcoma reveals mutation signatures reminiscent of BRCA deficiency.
Nature Communications
Kovac, Michal M; Blattmann, Claudia C; Ribi, Sebastian S; Smida, Jan J; Mueller, Nikola S NS; Engert, Florian F; Castro-Giner, Francesc F; Weischenfeldt, Joachim J; Kovacova, Monika M; Krieg, Andreas A; Andreou, Dimosthenis D; Tunn, Per-Ulf PU; Dürr, Hans Roland HR; Rechl, Hans H; Schaser, Klaus-Dieter KD; Melcher, Ingo I; Burdach, Stefan S; Kulozik, Andreas A; Specht, Katja K; Heinimann, Karl K; Fulda, Simone S; Bielack, Stefan S; Jundt, Gernot G; Tomlinson, Ian I; Korbel, Jan O JO; Nathrath, Michaela M; Baumhoer, Daniel D
Mutational profiling of brain metastasis from breast cancer: matched pair analysis of targeted sequencing between brain metastasis and primary breast cancer.
Oncotarget
Lee, Ji Yun JY; Park, Kyunghee K; Lim, Sung Hee SH; Kim, Hae Su HS; Yoo, Kwai Han KH; Jung, Ki Sun KS; Song, Haa-Na HN; Hong, Mineui M; Do, In-Gu IG; Ahn, TaeJin T; Lee, Se Kyung SK; Bae, Soo Youn SY; Kim, Seok Won SW; Lee, Jeong Eon JE; Nam, Seok Jin SJ; Kim, Duk-Hwan DH; Jung, Hae Hyun HH; Kim, Ji-Yeon JY; Ahn, Jin Seok JS; Im, Young-Hyuck YH; Park, Yeon Hee YH
Increased sensitivity of HPV-positive head and neck cancer cell lines to x-irradiation ± Cisplatin due to decreased expression of E6 and E7 oncoproteins and enhanced apoptosis.
American Journal Of Cancer Research
Ziemann, Frank F; Arenz, Andrea A; Preising, Stefanie S; Wittekindt, Claus C; Klussmann, Jens P JP; Engenhart-Cabillic, Rita R; Wittig, Andrea A
HPV-negative squamous cell carcinoma of the anal canal is unresponsive to standard treatment and frequently carries disruptive mutations in TP53.
British Journal Of Cancer
Meulendijks, D D; Tomasoa, N B NB; Dewit, L L; Smits, P H M PH; Bakker, R R; van Velthuysen, M-L F ML; Rosenberg, E H EH; Beijnen, J H JH; Schellens, J H M JH; Cats, A A
Martelotto, Luciano G LG; Ng, Charlotte Ky CK; De Filippo, Maria R MR; Zhang, Yan Y; Piscuoglio, Salvatore S; Lim, Raymond S RS; Shen, Ronglai R; Norton, Larry L; Reis-Filho, Jorge S JS; Weigelt, Britta B
Enhanced radiation sensitivity in HPV-positive head and neck cancer.
Cancer Research
Kimple, Randall J RJ; Smith, Molly A MA; Blitzer, Grace C GC; Torres, Alexandra D AD; Martin, Joshua A JA; Yang, Robert Z RZ; Peet, Chimera R CR; Lorenz, Laurel D LD; Nickel, Kwangok P KP; Klingelhutz, Aloysius J AJ; Lambert, Paul F PF; Harari, Paul M PM