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
Distinct clonal identities of B-ALLs arising after Lenolidomide therapy for multiple myeloma.
Blood Advances
Barnell, Erica K EK; Skidmore, Zachary L ZL; Newcomer, Kenneth F KF; Chavez, Monique M; Campbell, Katie M KM; Cotto, Kelsy C KC; Spies, Nicholas C NC; Ruzinova, Marianna B MB; Wang, Tianjiao T; Abro, Brooj B; Kreisel, Friederike F; Parikh, Bijal A BA; Duncavage, Eric J EJ; Frater, John L JL; Lee, Yi-Shan YS; Hassan, Anjum A; King, Justin J; Kohnen, Daniel R DR; Fiala, Mark A MA; Welch, John S S JSS; Uy, Geoffrey L GL; Vij, Kiran K; Vij, Ravi R; Griffith, Malachi M; Griffith, Obi L OL; Wartman, Lukas D LD
Whole-exome sequencing of epithelial ovarian carcinomas differing in resistance to platinum therapy.
Life Science Alliance
Hlaváč, Viktor V; Holý, Petr P; Václavíková, Radka R; Rob, Lukáš L; Hruda, Martin M; Mrhalová, Marcela M; Černaj, Petr P; Bouda, Jiří J; Souček, Pavel P
Age-dependent association of clonal hematopoiesis with COVID-19 mortality in patients over 60 years.
Geroscience
Del Pozo-Valero, Marta M; Corton, Marta M; López-Rodríguez, Rosario R; Mahillo-Fernández, Ignacio I; Ruiz-Hornillos, Javier J; Minguez, Pablo P; Villaverde, Cristina C; Pérez-Tomás, María Elena ME; Barreda-Sánchez, María M; Mancebo, Esther E; , ; Paz-Artal, Estela E; Guillén-Navarro, Encarna E; Almoguera, Berta B; Ayuso, Carmen C
Integrative genomic and transcriptomic analysis in plasmablastic lymphoma identifies disruption of key regulatory pathways.
Blood Advances
Witte, Hanno M HM; Künstner, Axel A; Hertel, Nadine N; Bernd, Heinz-Wolfram HW; Bernard, Veronica V; Stölting, Stephanie S; Merz, Hartmut H; von Bubnoff, Nikolas N; Busch, Hauke H; Feller, Alfred C AC; Gebauer, Niklas N
Molecular correlates of response to eribulin and pembrolizumab in hormone receptor-positive metastatic breast cancer.
Nature Communications
Keenan, Tanya E TE; Guerriero, Jennifer L JL; Barroso-Sousa, Romualdo R; Li, Tianyu T; O'Meara, Tess T; Giobbie-Hurder, Anita A; Tayob, Nabihah N; Hu, Jiani J; Severgnini, Mariano M; Agudo, Judith J; Vaz-Luis, Ines I; Anderson, Leilani L; Attaya, Victoria V; Park, Jihye J; Conway, Jake J; He, Meng Xiao MX; Reardon, Brendan B; Shannon, Erin E; Wulf, Gerburg G; Spring, Laura M LM; Jeselsohn, Rinath R; Krop, Ian I; Lin, Nancy U NU; Partridge, Ann A; Winer, Eric P EP; Mittendorf, Elizabeth A EA; Liu, David D; Van Allen, Eliezer M EM; Tolaney, Sara M SM
Acquisition of aneuploidy drives mutant p53-associated gain-of-function phenotypes.
Nature Communications
Redman-Rivera, Lindsay N LN; Shaver, Timothy M TM; Jin, Hailing H; Marshall, Clayton B CB; Schafer, Johanna M JM; Sheng, Quanhu Q; Hongo, Rachel A RA; Beckermann, Kathryn E KE; Wheeler, Ferrin C FC; Lehmann, Brian D BD; Pietenpol, Jennifer A JA
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
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
mTOR Signaling and SREBP Activity Increase FADS2 Expression and Can Activate Sapienate Biosynthesis.
Cell Reports
Triki, Mouna M; Rinaldi, Gianmarco G; Planque, Melanie M; Broekaert, Dorien D; Winkelkotte, Alina M AM; Maier, Carina R CR; Janaki Raman, Sudha S; Vandekeere, Anke A; Van Elsen, Joke J; Orth, Martin F MF; Grünewald, Thomas G P TGP; Schulze, Almut A; Fendt, Sarah-Maria SM
Comprehensive routine diagnostic screening to identify predictive mutations, gene amplifications, and microsatellite instability in FFPE tumor material.
Bmc Cancer
Steeghs, Elisabeth M P EMP; Kroeze, Leonie I LI; Tops, Bastiaan B J BBJ; van Kempen, Leon C LC; Ter Elst, Arja A; Kastner-van Raaij, Annemiek W M AWM; Hendriks-Cornelissen, Sandra J B SJB; Hermsen, Mandy J W MJW; Jansen, Erik A M EAM; Nederlof, Petra M PM; Schuuring, Ed E; Ligtenberg, Marjolijn J L MJL; Eijkelenboom, Astrid A
NOTCH target gene HES5 mediates oncogenic and tumor suppressive functions in hepatocarcinogenesis.
Oncogene
Luiken, Sarah S; Fraas, Angelika A; Bieg, Matthias M; Sugiyanto, Raisatun R; Goeppert, Benjamin B; Singer, Stephan S; Ploeger, Carolin C; Warsow, Gregor G; Marquardt, Jens U JU; Sticht, Carsten C; De La Torre, Carolina C; Pusch, Stefan S; Mehrabi, Arianeb A; Gretz, Norbert N; Schlesner, Matthias M; Eils, Roland R; Schirmacher, Peter P; Longerich, Thomas T; Roessler, Stephanie S
Publication Date: 2020-04
Variant appearance in text: TP53: 672G>A; E224E; rs267605076
Pediatric Cancer Variant Pathogenicity Information Exchange (PeCanPIE): a cloud-based platform for curating and classifying germline variants.
Genome Research
Edmonson, Michael N MN; Patel, Aman N AN; Hedges, Dale J DJ; Wang, Zhaoming Z; Rampersaud, Evadnie E; Kesserwan, Chimene A CA; Zhou, Xin X; Liu, Yanling Y; Newman, Scott S; Rusch, Michael C MC; McLeod, Clay L CL; Wilkinson, Mark R MR; Rice, Stephen V SV; Soussi, Thierry T; Taylor, J Paul JP; Benatar, Michael M; Becksfort, Jared B JB; Nichols, Kim E KE; Robison, Leslie L LL; Downing, James R JR; Zhang, Jinghui J
Integrated Analysis of TP53 Gene and Pathway Alterations in The Cancer Genome Atlas.
Cell Reports
Donehower, Lawrence A LA; Soussi, Thierry T; Korkut, Anil A; Liu, Yuexin Y; Schultz, Andre A; Cardenas, Maria M; Li, Xubin X; Babur, Ozgun O; Hsu, Teng-Kuei TK; Lichtarge, Olivier O; Weinstein, John N JN; Akbani, Rehan R; Wheeler, David A DA
Sharma, Yogita Y; Miladi, Milad M; Dukare, Sandeep S; Boulay, Karine K; Caudron-Herger, Maiwen M; Groß, Matthias M; Backofen, Rolf R; Diederichs, Sven S
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
Prevalence of germline mutations in the TP53 gene in patients with early-onset breast cancer in the Mexican population.
Bmc Cancer
Gallardo-Alvarado, Lenny N LN; Tusié-Luna, María Teresa MT; Tussié-Luna, María Isabel MI; Díaz-Chávez, José J; Segura, Yayoi X YX; Bargallo-Rocha, Enrique E; Villarreal, Cynthia C; Herrera-Montalvo, Luis A LA; Herrera-Medina, Enrique M EM; Cantu-de Leon, David F DF
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
Publication Date: 2019-04
Variant appearance in text: TP53: 672G>A; Glu224Glu
Contribution of allelic imbalance to colorectal cancer.
Nature Communications
Palin, Kimmo K; Pitkänen, Esa E; Turunen, Mikko M; Sahu, Biswajyoti B; Pihlajamaa, Päivi P; Kivioja, Teemu T; Kaasinen, Eevi E; Välimäki, Niko N; Hänninen, Ulrika A UA; Cajuso, Tatiana T; Aavikko, Mervi M; Tuupanen, Sari S; Kilpivaara, Outi O; van den Berg, Linda L; Kondelin, Johanna J; Tanskanen, Tomas T; Katainen, Riku R; Grau, Marta M; Rauanheimo, Heli H; Plaketti, Roosa-Maria RM; Taira, Aurora A; Sulo, Päivi P; Hartonen, Tuomo T; Dave, Kashyap K; Schmierer, Bernhard B; Botla, Sandeep S; Sokolova, Maria M; Vähärautio, Anna A; Gladysz, Kornelia K; Ongen, Halit H; Dermitzakis, Emmanouil E; Bramsen, Jesper Bertram JB; Ørntoft, Torben Falck TF; Andersen, Claus Lindbjerg CL; Ristimäki, Ari A; Lepistö, Anna A; Renkonen-Sinisalo, Laura L; Mecklin, Jukka-Pekka JP; Taipale, Jussi J; Aaltonen, Lauri A LA
A study of splicing mutations in disorders of sex development.
Scientific Reports
de Calais, Flavia Leme FL; Smith, Lindsay D LD; Raponi, Michela M; Maciel-Guerra, Andréa Trevas AT; Guerra-Junior, Gil G; de Mello, Maricilda Palandi MP; Baralle, Diana D
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
Optimized p53 immunohistochemistry is an accurate predictor of TP53 mutation in ovarian carcinoma.
The Journal Of Pathology. Clinical Research
Köbel, Martin M; Piskorz, Anna M AM; Lee, Sandra S; Lui, Shuhong S; LePage, Cecile C; Marass, Francesco F; Rosenfeld, Nitzan N; Mes Masson, Anne-Marie AM; Brenton, James D JD
Spatio-temporal mutation profiles of case-matched colorectal carcinomas and their metastases reveal unique de novo mutations in metachronous lung metastases by targeted next generation sequencing.
Molecular Cancer
Kovaleva, Valentina V; Geissler, Anna-Lena AL; Lutz, Lisa L; Fritsch, Ralph R; Makowiec, Frank F; Wiesemann, Sebastian S; Hopt, Ulrich T UT; Passlick, Bernward B; Werner, Martin M; Lassmann, Silke S
Recurrent inactivating RASA2 mutations in melanoma.
Nature Genetics
Arafeh, Rand R; Qutob, Nouar N; Emmanuel, Rafi R; Keren-Paz, Alona A; Madore, Jason J; Elkahloun, Abdel A; Wilmott, James S JS; Gartner, Jared J JJ; Di Pizio, Antonella A; Winograd-Katz, Sabina S; Sindiri, Sivasish S; Rotkopf, Ron R; Dutton-Regester, Ken K; Johansson, Peter P; Pritchard, Antonia L AL; Waddell, Nicola N; Hill, Victoria K VK; Lin, Jimmy C JC; Hevroni, Yael Y; Rosenberg, Steven A SA; Khan, Javed J; Ben-Dor, Shifra S; Niv, Masha Y MY; Ulitsky, Igor I; Mann, Graham J GJ; Scolyer, Richard A RA; Hayward, Nicholas K NK; Samuels, Yardena Y
Multi-tiered genomic analysis of head and neck cancer ties TP53 mutation to 3p loss.
Nature Genetics
Gross, Andrew M AM; Orosco, Ryan K RK; Shen, John P JP; Egloff, Ann Marie AM; Carter, Hannah H; Hofree, Matan M; Choueiri, Michel M; Coffey, Charles S CS; Lippman, Scott M SM; Hayes, D Neil DN; Cohen, Ezra E EE; Grandis, Jennifer R JR; Nguyen, Quyen T QT; Ideker, Trey T
A highly recurrent RPS27 5'UTR mutation in melanoma.
Oncotarget
Dutton-Regester, Ken K; Gartner, Jared J JJ; Emmanuel, Rafi R; Qutob, Nouar N; Davies, Michael A MA; Gershenwald, Jeffrey E JE; Robinson, William W; Robinson, Steven S; Rosenberg, Steven A SA; Scolyer, Richard A RA; Mann, Graham J GJ; Thompson, John F JF; Hayward, Nicholas K NK; Samuels, Yardena Y
p53 mutations in classic and pleomorphic invasive lobular carcinoma of the breast.
Cellular Oncology (Dordrecht)
Ercan, Cigdem C; van Diest, Paul J PJ; van der Ende, Bram B; Hinrichs, John J; Bult, Peter P; Buerger, Horst H; van der Wall, Elsken E; Derksen, Patrick W B PW
Extremely high Tp53 mutation load in esophageal squamous cell carcinoma in Golestan Province, Iran.
Plos One
Abedi-Ardekani, Behnoush B; Kamangar, Farin F; Sotoudeh, Masoud M; Villar, Stephanie S; Islami, Farhad F; Aghcheli, Karim K; Nasrollahzadeh, Dariush D; Taghavi, Noushin N; Dawsey, Sanford M SM; Abnet, Christian C CC; Hewitt, Stephen M SM; Fahimi, Saman S; Saidi, Farrokh F; Brennan, Paul P; Boffetta, Paolo P; Malekzadeh, Reza R; Hainaut, Pierre P