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: NRAS: 149C>T; Thr50Ile
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
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: NRAS: 149C>T; Thr50Ile
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
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
Assessing the Pathogenicity, Penetrance, and Expressivity of Putative Disease-Causing Variants in a Population Setting.
American Journal Of Human Genetics
Wright, Caroline F CF; West, Ben B; Tuke, Marcus M; Jones, Samuel E SE; Patel, Kashyap K; Laver, Thomas W TW; Beaumont, Robin N RN; Tyrrell, Jessica J; Wood, Andrew R AR; Frayling, Timothy M TM; Hattersley, Andrew T AT; Weedon, Michael N MN
Somatic genetic alterations in synchronous and metachronous low-grade serous tumours and high-grade carcinomas of the adnexa.
Histopathology
Murali, Rajmohan R; Selenica, Pier P; Brown, David N DN; Cheetham, R Keira RK; Chandramohan, Raghu R; Claros, Nidia L NL; Bouvier, Nancy N; Cheng, Donavan T DT; Soslow, Robert A RA; Weigelt, Britta B; McCluggage, W Glenn WG
Formalin fixation increases deamination mutation signature but should not lead to false positive mutations in clinical practice.
Plos One
Prentice, Leah M LM; Miller, Ruth R RR; Knaggs, Jeff J; Mazloomian, Alborz A; Aguirre Hernandez, Rosalia R; Franchini, Patrick P; Parsa, Kourosh K; Tessier-Cloutier, Basile B; Lapuk, Anna A; Huntsman, David D; Schaeffer, David F DF; Sheffield, Brandon S BS
A multiple myeloma-specific capture sequencing platform discovers novel translocations and frequent, risk-associated point mutations in IGLL5.
Blood Cancer Journal
White, Brian S BS; Lanc, Irena I; O'Neal, Julie J; Gupta, Harshath H; Fulton, Robert S RS; Schmidt, Heather H; Fronick, Catrina C; Belter, Edward A EA; Fiala, Mark M; King, Justin J; Ahmann, Greg J GJ; DeRome, Mary M; Mardis, Elaine R ER; Vij, Ravi R; DiPersio, John F JF; Levy, Joan J; Auclair, Daniel D; Tomasson, Michael H MH
Genotype and phenotype spectrum of NRAS germline variants.
European Journal Of Human Genetics : Ejhg
Altmüller, Franziska F; Lissewski, Christina C; Bertola, Debora D; Flex, Elisabetta E; Stark, Zornitza Z; Spranger, Stephanie S; Baynam, Gareth G; Buscarilli, Michelle M; Dyack, Sarah S; Gillis, Jane J; Yntema, Helger G HG; Pantaleoni, Francesca F; van Loon, Rosa LE RL; MacKay, Sara S; Mina, Kym K; Schanze, Ina I; Tan, Tiong Yang TY; Walsh, Maie M; White, Susan M SM; Niewisch, Marena R MR; García-Miñaúr, Sixto S; Plaza, Diego D; Ahmadian, Mohammad Reza MR; Cavé, Hélène H; Tartaglia, Marco M; Zenker, Martin M
Publication Date: 2017-06
Variant appearance in text: NRAS: 149C>T; Thr50Ile
Whole-genome sequencing of spermatocytic tumors provides insights into the mutational processes operating in the male germline.
Plos One
Giannoulatou, Eleni E; Maher, Geoffrey J GJ; Ding, Zhihao Z; Gillis, Ad J M AJM; Dorssers, Lambert C J LCJ; Hoischen, Alexander A; Rajpert-De Meyts, Ewa E; , ; McVean, Gilean G; Wilkie, Andrew O M AOM; Looijenga, Leendert H J LHJ; Goriely, Anne A
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
Juvenile myelomonocytic leukemia-associated variants are associated with neo-natal lethal Noonan syndrome.
European Journal Of Human Genetics : Ejhg
Mason-Suares, Heather H; Toledo, Diana D; Gekas, Jean J; Lafferty, Katherine A KA; Meeks, Naomi N; Pacheco, M Cristina MC; Sharpe, David D; Mullen, Thomas E TE; Lebo, Matthew S MS
Publication Date: 2017-04
Variant appearance in text: NRAS: 149C>T; Thr50Ile
LowMACA: exploiting protein family analysis for the identification of rare driver mutations in cancer.
Bmc Bioinformatics
Melloni, Giorgio E M GE; de Pretis, Stefano S; Riva, Laura L; Pelizzola, Mattia M; Céol, Arnaud A; Costanza, Jole J; Müller, Heiko H; Zammataro, Luca L
Publication Date: 2016-02-09
Variant appearance in text: NRAS: T50I; rs267606921
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
Mutation in NRAS in familial Noonan syndrome--case report and review of the literature.
Bmc Medical Genetics
Ekvall, Sara S; Wilbe, Maria M; Dahlgren, Jovanna J; Legius, Eric E; van Haeringen, Arie A; Westphal, Otto O; Annerén, Göran G; Bondeson, Marie-Louise ML
Specific cancer-associated mutations in the switch III region of Ras increase tumorigenicity by nanocluster augmentation.
Elife
Šolman, Maja M; Ligabue, Alessio A; Blaževitš, Olga O; Jaiswal, Alok A; Zhou, Yong Y; Liang, Hong H; Lectez, Benoit B; Kopra, Kari K; Guzmán, Camilo C; Härmä, Harri H; Hancock, John F JF; Aittokallio, Tero T; Abankwa, Daniel D
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
Defective K-Ras oncoproteins overcome impaired effector activation to initiate leukemia in vivo.
Blood
Shieh, Angell A; Ward, Ashley F AF; Donlan, Kegan L KL; Harding-Theobald, Emily R ER; Xu, Jin J; Mullighan, Charles G CG; Zhang, Chao C; Chen, Shann-Ching SC; Su, Xiaoping X; Downing, James R JR; Bollag, Gideon E GE; Shannon, Kevin M KM
Berger, Michael F MF; Hodis, Eran E; Heffernan, Timothy P TP; Deribe, Yonathan Lissanu YL; Lawrence, Michael S MS; Protopopov, Alexei A; Ivanova, Elena E; Watson, Ian R IR; Nickerson, Elizabeth E; Ghosh, Papia P; Zhang, Hailei H; Zeid, Rhamy R; Ren, Xiaojia X; Cibulskis, Kristian K; Sivachenko, Andrey Y AY; Wagle, Nikhil N; Sucker, Antje A; Sougnez, Carrie C; Onofrio, Robert R; Ambrogio, Lauren L; Auclair, Daniel D; Fennell, Timothy T; Carter, Scott L SL; Drier, Yotam Y; Stojanov, Petar P; Singer, Meredith A MA; Voet, Douglas D; Jing, Rui R; Saksena, Gordon G; Barretina, Jordi J; Ramos, Alex H AH; Pugh, Trevor J TJ; Stransky, Nicolas N; Parkin, Melissa M; Winckler, Wendy W; Mahan, Scott S; Ardlie, Kristin K; Baldwin, Jennifer J; Wargo, Jennifer J; Schadendorf, Dirk D; Meyerson, Matthew M; Gabriel, Stacey B SB; Golub, Todd R TR; Wagner, Stephan N SN; Lander, Eric S ES; Getz, Gad G; Chin, Lynda L; Garraway, Levi A LA
Noonan syndrome gain-of-function mutations in NRAS cause zebrafish gastrulation defects.
Disease Models & Mechanisms
Runtuwene, Vincent V; van Eekelen, Mark M; Overvoorde, John J; Rehmann, Holger H; Yntema, Helger G HG; Nillesen, Willy M WM; van Haeringen, Arie A; van der Burgt, Ineke I; Burgering, Boudewijn B; den Hertog, Jeroen J
Germline KRAS mutations cause aberrant biochemical and physical properties leading to developmental disorders.
Human Mutation
Gremer, Lothar L; Merbitz-Zahradnik, Torsten T; Dvorsky, Radovan R; Cirstea, Ion C IC; Kratz, Christian Peter CP; Zenker, Martin M; Wittinghofer, Alfred A; Ahmadian, Mohammad Reza MR
Proceedings from the 2009 genetic syndromes of the Ras/MAPK pathway: From bedside to bench and back.
American Journal Of Medical Genetics. Part A
Rauen, Katherine A KA; Schoyer, Lisa L; McCormick, Frank F; Lin, Angela E AE; Allanson, Judith E JE; Stevenson, David A DA; Gripp, Karen W KW; Neri, Giovanni G; Carey, John C JC; Legius, Eric E; Tartaglia, Marco M; Schubbert, Suzanne S; Roberts, Amy E AE; Gelb, Bruce D BD; Shannon, Kevin K; Gutmann, David H DH; McMahon, Martin M; Guerra, Carmen C; Fagin, James A JA; Yu, Benjamin B; Aoki, Yoko Y; Neel, Benjamin G BG; Balmain, Allan A; Drake, Richard R RR; Nolan, Garry P GP; Zenker, Martin M; Bollag, Gideon G; Sebolt-Leopold, Judith J; Gibbs, Jackson B JB; Silva, Alcino J AJ; Patton, E Elizabeth EE; Viskochil, David H DH; Kieran, Mark W MW; Korf, Bruce R BR; Hagerman, Randi J RJ; Packer, Roger J RJ; Melese, Teri T
A restricted spectrum of NRAS mutations causes Noonan syndrome.
Nature Genetics
Cirstea, Ion C IC; Kutsche, Kerstin K; Dvorsky, Radovan R; Gremer, Lothar L; Carta, Claudio C; Horn, Denise D; Roberts, Amy E AE; Lepri, Francesca F; Merbitz-Zahradnik, Torsten T; König, Rainer R; Kratz, Christian P CP; Pantaleoni, Francesca F; Dentici, Maria L ML; Joshi, Victoria A VA; Kucherlapati, Raju S RS; Mazzanti, Laura L; Mundlos, Stefan S; Patton, Michael A MA; Silengo, Margherita Cirillo MC; Rossi, Cesare C; Zampino, Giuseppe G; Digilio, Cristina C; Stuppia, Liborio L; Seemanova, Eva E; Pennacchio, Len A LA; Gelb, Bruce D BD; Dallapiccola, Bruno B; Wittinghofer, Alfred A; Ahmadian, Mohammad R MR; Tartaglia, Marco M; Zenker, Martin M