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: 313G>A; Gly105Ser
Germline TP53 mutations undergo copy number gain years prior to tumor diagnosis.
Nature Communications
Light, Nicholas N; Layeghifard, Mehdi M; Attery, Ayush A; Subasri, Vallijah V; Zatzman, Matthew M; Anderson, Nathaniel D ND; Hatkar, Rupal R; Blay, Sasha S; Chen, David D; Novokmet, Ana A; Fuligni, Fabio F; Tran, James J; de Borja, Richard R; Agarwal, Himanshi H; Waldman, Larissa L; Abegglen, Lisa M LM; Albertson, Daniel D; Finlay, Jonathan L JL; Hansford, Jordan R JR; Behjati, Sam S; Villani, Anita A; Gerstung, Moritz M; Alexandrov, Ludmil B LB; Somers, Gino R GR; Schiffman, Joshua D JD; Rotter, Varda V; Malkin, David D; Shlien, Adam A
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
Association of clonal hematopoiesis with chronic obstructive pulmonary disease.
Blood
Miller, Peter G PG; Qiao, Dandi D; Rojas-Quintero, Joselyn J; Honigberg, Michael C MC; Sperling, Adam S AS; Gibson, Christopher J CJ; Bick, Alexander G AG; Niroula, Abhishek A; McConkey, Marie E ME; Sandoval, Brittany B; Miller, Brian C BC; Shi, Weiwei W; Viswanathan, Kaushik K; Leventhal, Matthew M; Werner, Lillian L; Moll, Matthew M; Cade, Brian E BE; Barr, R Graham RG; Correa, Adolfo A; Cupples, L Adrienne LA; Gharib, Sina A SA; Jain, Deepti D; Gogarten, Stephanie M SM; Lange, Leslie A LA; London, Stephanie J SJ; Manichaikul, Ani A; O'Connor, George T GT; Oelsner, Elizabeth C EC; Redline, Susan S; Rich, Stephen S SS; Rotter, Jerome I JI; Ramachandran, Vasan V; Yu, Bing B; Sholl, Lynette L; Neuberg, Donna D; Jaiswal, Siddhartha S; Levy, Bruce D BD; Owen, Caroline A CA; Natarajan, Pradeep P; Silverman, Edwin K EK; van Galen, Peter P; Tesfaigzi, Yohannes Y; Cho, Michael H MH; Ebert, Benjamin L BL; ,
Identification of biomarkers complementary to homologous recombination deficiency for improving the clinical outcome of ovarian serous cystadenocarcinoma.
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
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
TP53 Mutation Analysis in Gastric Cancer and Clinical Outcomes of Patients with Metastatic Disease Treated with Ramucirumab/Paclitaxel or Standard Chemotherapy.
Cancers
Graziano, Francesco F; Fischer, Nicholas W NW; Bagaloni, Irene I; Di Bartolomeo, Maria M; Lonardi, Sara S; Vincenzi, Bruno B; Perrone, Giuseppe G; Fornaro, Lorenzo L; Ongaro, Elena E; Aprile, Giuseppe G; Bisonni, Renato R; Prisciandaro, Michele M; Malkin, David D; Gariépy, Jean J; Fassan, Matteo M; Loupakis, Fotios F; Sarti, Donatella D; Del Prete, Michela M; Catalano, Vincenzo V; Alessandroni, Paolo P; Magnani, Mauro M; Ruzzo, Annamaria A
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
Molecular Neuropathology in Practice: Clinical Profiling and Integrative Analysis of Molecular Alterations in Glioblastoma.
Academic Pathology
Nasrallah, MacLean P MP; Binder, Zev A ZA; Oldridge, Derek A DA; Zhao, Jianhua J; Lieberman, David B DB; Roth, Jacquelyn J JJ; Watt, Christopher D CD; Sukhadia, Shrey S; Klinman, Eva E; Daber, Robert D RD; Desai, Arati A; Brem, Steven S; O'Rourke, Donald M DM; Morrissette, Jennifer J D JJD
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: 313G>A; Gly105Ser
Copy number signatures and mutational processes in ovarian carcinoma.
Nature Genetics
Macintyre, Geoff G; Goranova, Teodora E TE; De Silva, Dilrini D; Ennis, Darren D; Piskorz, Anna M AM; Eldridge, Matthew M; Sie, Daoud D; Lewsley, Liz-Anne LA; Hanif, Aishah A; Wilson, Cheryl C; Dowson, Suzanne S; Glasspool, Rosalind M RM; Lockley, Michelle M; Brockbank, Elly E; Montes, Ana A; Walther, Axel A; Sundar, Sudha S; Edmondson, Richard R; Hall, Geoff D GD; Clamp, Andrew A; Gourley, Charlie C; Hall, Marcia M; Fotopoulou, Christina C; Gabra, Hani H; Paul, James J; Supernat, Anna A; Millan, David D; Hoyle, Aoisha A; Bryson, Gareth G; Nourse, Craig C; Mincarelli, Laura L; Sanchez, Luis Navarro LN; Ylstra, Bauke B; Jimenez-Linan, Mercedes M; Moore, Luiza L; Hofmann, Oliver O; Markowetz, Florian F; McNeish, Iain A IA; Brenton, James D JD
Molecular characterization of circulating colorectal tumor cells defines genetic signatures for individualized cancer care.
Oncotarget
Kong, Say Li SL; Liu, Xingliang X; Suhaimi, Nur-Afidah Mohamed NM; Koh, Kenneth Jia Hao KJH; Hu, Min M; Lee, Daniel Yoke San DYS; Cima, Igor I; Phyo, Wai Min WM; Lee, Esther Xing Wei EXW; Tai, Joyce A JA; Foong, Yu Miin YM; Vo, Jess Honganh JH; Koh, Poh Koon PK; Zhang, Tong T; Ying, Jackie Y JY; Lim, Bing B; Tan, Min-Han MH; Hillmer, Axel M AM
Clinical impact of the subclonal architecture and mutational complexity in chronic lymphocytic leukemia.
Leukemia
Nadeu, F F; Clot, G G; Delgado, J J; Martín-García, D D; Baumann, T T; Salaverria, I I; Beà, S S; Pinyol, M M; Jares, P P; Navarro, A A; Suárez-Cisneros, H H; Aymerich, M M; Rozman, M M; Villamor, N N; Colomer, D D; González, M M; Alcoceba, M M; Terol, M J MJ; Navarro, B B; Colado, E E; Payer, Á R ÁR; Puente, X S XS; López-Otín, C C; López-Guillermo, A A; Enjuanes, A A; Campo, E E
Correlation of genomic alterations assessed by next-generation sequencing (NGS) of tumor tissue DNA and circulating tumor DNA (ctDNA) in metastatic renal cell carcinoma (mRCC): potential clinical implications.
Oncotarget
Hahn, Andrew W AW; Gill, David M DM; Maughan, Benjamin B; Agarwal, Archana A; Arjyal, Lubina L; Gupta, Sumati S; Streeter, Jessica J; Bailey, Erin E; Pal, Sumanta K SK; Agarwal, Neeraj N
A Landscape of Pharmacogenomic Interactions in Cancer.
Cell
Iorio, Francesco F; Knijnenburg, Theo A TA; Vis, Daniel J DJ; Bignell, Graham R GR; Menden, Michael P MP; Schubert, Michael M; Aben, Nanne N; Gonçalves, Emanuel E; Barthorpe, Syd S; Lightfoot, Howard H; Cokelaer, Thomas T; Greninger, Patricia P; van Dyk, Ewald E; Chang, Han H; de Silva, Heshani H; Heyn, Holger H; Deng, Xianming X; Egan, Regina K RK; Liu, Qingsong Q; Mironenko, Tatiana T; Mitropoulos, Xeni X; Richardson, Laura L; Wang, Jinhua J; Zhang, Tinghu T; Moran, Sebastian S; Sayols, Sergi S; Soleimani, Maryam M; Tamborero, David D; Lopez-Bigas, Nuria N; Ross-Macdonald, Petra P; Esteller, Manel M; Gray, Nathanael S NS; Haber, Daniel A DA; Stratton, Michael R MR; Benes, Cyril H CH; Wessels, Lodewyk F A LFA; Saez-Rodriguez, Julio J; McDermott, Ultan U; Garnett, Mathew J MJ
Identification of Circulating Tumor DNA for the Early Detection of Small-cell Lung Cancer.
Ebiomedicine
Fernandez-Cuesta, Lynnette L; Perdomo, Sandra S; Avogbe, Patrice H PH; Leblay, Noemie N; Delhomme, Tiffany M TM; Gaborieau, Valerie V; Abedi-Ardekani, Behnoush B; Chanudet, Estelle E; Olivier, Magali M; Zaridze, David D; Mukeria, Anush A; Vilensky, Marta M; Holcatova, Ivana I; Polesel, Jerry J; Simonato, Lorenzo L; Canova, Cristina C; Lagiou, Pagona P; Brambilla, Christian C; Brambilla, Elisabeth E; Byrnes, Graham G; Scelo, Ghislaine G; Le Calvez-Kelm, Florence F; Foll, Matthieu M; McKay, James D JD; Brennan, Paul P
NOTCH, ASCL1, p53 and RB alterations define an alternative pathway driving neuroendocrine and small cell lung carcinomas.
International Journal Of Cancer
Meder, Lydia L; König, Katharina K; Ozretić, Luka L; Schultheis, Anne M AM; Ueckeroth, Frank F; Ade, Carsten P CP; Albus, Kerstin K; Boehm, Diana D; Rommerscheidt-Fuss, Ursula U; Florin, Alexandra A; Buhl, Theresa T; Hartmann, Wolfgang W; Wolf, Jürgen J; Merkelbach-Bruse, Sabine S; Eilers, Martin M; Perner, Sven S; Heukamp, Lukas C LC; Buettner, Reinhard R
Amplicon sequencing of colorectal cancer: variant calling in frozen and formalin-fixed samples.
Plos One
Betge, Johannes J; Kerr, Grainne G; Miersch, Thilo T; Leible, Svenja S; Erdmann, Gerrit G; Galata, Christian L CL; Zhan, Tianzuo T; Gaiser, Timo T; Post, Stefan S; Ebert, Matthias P MP; Horisberger, Karoline K; Boutros, Michael M
Assessing the clinical value of targeted massively parallel sequencing in a longitudinal, prospective population-based study of cancer patients.
British Journal Of Cancer
Wong, S Q SQ; Fellowes, A A; Doig, K K; Ellul, J J; Bosma, T J TJ; Irwin, D D; Vedururu, R R; Tan, A Y-C AY; Weiss, J J; Chan, K S KS; Lucas, M M; Thomas, D M DM; Dobrovic, A A; Parisot, J P JP; Fox, S B SB
Pharmacokinetic, pharmacodynamic and biomarker evaluation of transforming growth factor-β receptor I kinase inhibitor, galunisertib, in phase 1 study in patients with advanced cancer.
Investigational New Drugs
Rodón, Jordi J; Carducci, Michael M; Sepulveda-Sánchez, Juan M JM; Azaro, Analía A; Calvo, Emiliano E; Seoane, Joan J; Braña, Irene I; Sicart, Elisabet E; Gueorguieva, Ivelina I; Cleverly, Ann A; Pillay, N Sokalingum NS; Desaiah, Durisala D; Estrem, Shawn T ST; Paz-Ares, Luis L; Holdhoff, Matthias M; Blakeley, Jaishri J; Lahn, Michael M MM; Baselga, Jose J
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
Age-related mutations associated with clonal hematopoietic expansion and malignancies.
Nature Medicine
Xie, Mingchao M; Lu, Charles C; Wang, Jiayin J; McLellan, Michael D MD; Johnson, Kimberly J KJ; Wendl, Michael C MC; McMichael, Joshua F JF; Schmidt, Heather K HK; Yellapantula, Venkata V; Miller, Christopher A CA; Ozenberger, Bradley A BA; Welch, John S JS; Link, Daniel C DC; Walter, Matthew J MJ; Mardis, Elaine R ER; Dipersio, John F JF; Chen, Feng F; Wilson, Richard K RK; Ley, Timothy J TJ; Ding, Li L