Genomic profiling of a metastatic anaplastic melanocytic neuroectodermal tumor arising from a mature thymic teratoma as part of a mediastinal germ cell tumor.
Whole-genome analysis identifies novel drivers and high-risk double-hit events in relapsed/refractory myeloma.
Blood
Ansari-Pour, Naser N; Samur, Mehmet K MK; Flynt, Erin E; Gooding, Sarah S; Towfic, Fadi F; Stong, Nicholas N; Ortiz Estevez, Maria M; Mavrommatis, Konstantinos K; Walker, Brian A BA; Morgan, Gareth J GJ; Munshi, Nikhil C NC; Avet Loiseau, Herve H; Thakurta, Anjan A
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
Duplex Sequencing Uncovers Recurrent Low-frequency Cancer-associated Mutations in Infant and Childhood KMT2A-rearranged Acute Leukemia.
Hemasphere
Pilheden, Mattias M; Ahlgren, Louise L; Hyrenius-Wittsten, Axel A; Gonzalez-Pena, Veronica V; Sturesson, Helena H; Hansen Marquart, Hanne Vibeke HV; Lausen, Birgitte B; Castor, Anders A; Pronk, Cornelis Jan CJ; Barbany, Gisela G; Pokrovskaja Tamm, Katja K; Fogelstrand, Linda L; Lohi, Olli O; Norén-Nyström, Ulrika U; Asklin, Johanna J; Chen, Yilun Y; Song, Guangchun G; Walsh, Michael M; Ma, Jing J; Zhang, Jinghui J; Saal, Lao H LH; Gawad, Charles C; Hagström-Andersson, Anna K AK
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: KRAS: 187G>A; Glu63Lys
Molecular profiling of advanced malignancies guides first-line N-of-1 treatments in the I-PREDICT treatment-naïve study.
Genome Medicine
Sicklick, Jason K JK; Kato, Shumei S; Okamura, Ryosuke R; Patel, Hitendra H; Nikanjam, Mina M; Fanta, Paul T PT; Hahn, Michael E ME; De, Pradip P; Williams, Casey C; Guido, Jessica J; Solomon, Benjamin M BM; McKay, Rana R RR; Krie, Amy A; Boles, Sarah G SG; Ross, Jeffrey S JS; Lee, J Jack JJ; Leyland-Jones, Brian B; Lippman, Scott M SM; Kurzrock, Razelle R
Molecular and functional profiling identifies therapeutically targetable vulnerabilities in plasmablastic lymphoma.
Nature Communications
Frontzek, Fabian F; Staiger, Annette M AM; Zapukhlyak, Myroslav M; Xu, Wendan W; Bonzheim, Irina I; Borgmann, Vanessa V; Sander, Philip P; Baptista, Maria Joao MJ; Heming, Jan-Niklas JN; Berning, Philipp P; Wullenkord, Ramona R; Erdmann, Tabea T; Lutz, Mathias M; Veratti, Pia P; Ehrenfeld, Sophia S; Wienand, Kirsty K; Horn, Heike H; Goodlad, John R JR; Wilson, Matthew R MR; Anagnostopoulos, Ioannis I; Lamping, Mario M; Gonzalez-Barca, Eva E; Climent, Fina F; Salar, Antonio A; Castellvi, Josep J; Abrisqueta, Pau P; Menarguez, Javier J; Aldamiz, Teresa T; Richter, Julia J; Klapper, Wolfram W; Tzankov, Alexandar A; Dirnhofer, Stefan S; Rosenwald, Andreas A; Mate, José Luis JL; Tapia, Gustavo G; Lenz, Peter P; Miething, Cornelius C; Hartmann, Wolfgang W; Chapuy, Björn B; Fend, Falko F; Ott, German G; Navarro, José-Tomas JT; Grau, Michael M; Lenz, Georg G
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
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
Multiclonal complexity of pediatric acute lymphoblastic leukemia and the prognostic relevance of subclonal mutations
Haematologica
Antić, Željko Ž; Yu, Jiangyan J; Van Reijmersdal, Simon V SV; Van Dijk, Anke A; Dekker, Linde L; Segerink, Wouter H WH; Sonneveld, Edwin E; Fiocco, Marta M; Pieters, Rob R; Hoogerbrugge, Peter M PM; Van Leeuwen, Frank N FN; Van Kessel, Ad Geurts AG; Waanders, Esme E; Kuiper, Roland P RP
Multiclonal complexity of pediatric acute lymphoblastic leukemia and the prognostic relevance of subclonal mutations
Haematologica
Antić, Željko Ž; Yu, Jiangyan J; Van Reijmersdal, Simon V SV; Van Dijk, Anke A; Dekker, Linde L; Segerink, Wouter H WH; Sonneveld, Edwin E; Fiocco, Marta M; Pieters, Rob R; Hoogerbrugge, Peter M PM; Van Leeuwen, Frank N FN; Van Kessel, Ad Geurts AG; Waanders, Esme E; Kuiper, Roland P RP
Clinicopathological and Molecular Differences Between Gastric-type Mucinous Carcinoma and Usual-type Endocervical Adenocarcinoma of the Uterine Cervix.
Cancer Genomics & Proteomics
Jung, Hera H; Bae, Go Eun GE; Kim, Hye Min HM; Kim, Hyun-Soo HS
Publication Date: 2020
Variant appearance in text: KRAS: 187G>A; Glu63Lys
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
Cross-species oncogenic signatures of breast cancer in canine mammary tumors.
Nature Communications
Kim, Tae-Min TM; Yang, In Seok IS; Seung, Byung-Joon BJ; Lee, Sejoon S; Kim, Dohyun D; Ha, Yoo-Jin YJ; Seo, Mi-Kyoung MK; Kim, Ka-Kyung KK; Kim, Hyun Seok HS; Cheong, Jae-Ho JH; Sur, Jung-Hyang JH; Nam, Hojung H; Kim, Sangwoo S
Genomic landscape of platinum resistant and sensitive testicular cancers.
Nature Communications
Loveday, Chey C; Litchfield, Kevin K; Proszek, Paula Z PZ; Cornish, Alex J AJ; Santo, Flavia F; Levy, Max M; Macintyre, Geoff G; Holryod, Amy A; Broderick, Peter P; Dudakia, Darshna D; Benton, Barbara B; Bakir, Maise Al MA; Hiley, Crispin C; Grist, Emily E; Swanton, Charles C; Huddart, Robert R; Powles, Tom T; Chowdhury, Simon S; Shipley, Janet J; O'Connor, Simon S; Brenton, James D JD; Reid, Alison A; de Castro, David Gonzalez DG; Houlston, Richard S RS; Turnbull, Clare C
MYC dysregulation in the progression of multiple myeloma.
Leukemia
Misund, Kristine K; Keane, Niamh N; Stein, Caleb K CK; Asmann, Yan W YW; Day, Grady G; Welsh, Seth S; Van Wier, Scott A SA; Riggs, Daniel L DL; Ahmann, Greg G; Chesi, Marta M; Viswanatha, David S DS; Kumar, Shaji K SK; Dispenzieri, Angela A; Gonzalez-Calle, Veronica V; Kyle, Robert A RA; O'Dwyer, Michael M; Rajkumar, S Vincent SV; Kortüm, K Martin KM; Keats, J Jonathan JJ; , ; Fonseca, Rafael R; Stewart, A Keith AK; Kuehl, W Michael WM; Braggio, Esteban E; Bergsagel, P Leif PL
Publication Date: 2020-01
Variant appearance in text: KRAS: 187G>A; Glu63Lys
DNA-Repair Gene Mutations Are Highly Prevalent in Circulating Tumour DNA from Multiple Myeloma Patients.
Cancers
Mithraprabhu, Sridurga S; Hocking, Jay J; Ramachandran, Malarmathy M; Choi, Kawa K; Klarica, Daniela D; Khong, Tiffany T; Reynolds, John J; Spencer, Andrew A
Reliance upon ancestral mutations is maintained in colorectal cancers that heterogeneously evolve during targeted therapies.
Nature Communications
Russo, Mariangela M; Lamba, Simona S; Lorenzato, Annalisa A; Sogari, Alberto A; Corti, Giorgio G; Rospo, Giuseppe G; Mussolin, Benedetta B; Montone, Monica M; Lazzari, Luca L; Arena, Sabrina S; Oddo, Daniele D; Linnebacher, Michael M; Sartore-Bianchi, Andrea A; Pietrantonio, Filippo F; Siena, Salvatore S; Di Nicolantonio, Federica F; Bardelli, Alberto A
Importance of Comprehensive Molecular Profiling for Clinical Outcome in Children With Recurrent Cancer.
Frontiers In Pediatrics
Østrup, Olga O; Nysom, Karsten K; Scheie, David D; Schmidt, Ane Y AY; Mathiasen, Rene R; Hjalgrim, Lisa L LL; Olsen, Tina E TE; Skjøth-Rasmussen, Jane J; Henriksen, Birthe M BM; Nielsen, Finn C FC; Wehner, Peder S PS; Schrøder, Henrik H; Sehested, Astrid M AM; Rechnitzer, Catherine C; Rossing, Maria M
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
Machine Learning Detects Pan-cancer Ras Pathway Activation in The Cancer Genome Atlas.
Cell Reports
Way, Gregory P GP; Sanchez-Vega, Francisco F; La, Konnor K; Armenia, Joshua J; Chatila, Walid K WK; Luna, Augustin A; Sander, Chris C; Cherniack, Andrew D AD; Mina, Marco M; Ciriello, Giovanni G; Schultz, Nikolaus N; , ; Sanchez, Yolanda Y; Greene, Casey S CS
The role of constitutive activation of FMS-related tyrosine kinase-3 and NRas/KRas mutational status in infants with KMT2A-rearranged acute lymphoblastic leukemia.
Haematologica
Fedders, Henning H; Alsadeq, Ameera A; Schmäh, Juliane J; Vogiatzi, Fotini F; Zimmermann, Martin M; Möricke, Anja A; Lenk, Lennart L; Stadt, Udo Zur UZ; Horstmann, Martin A MA; Pieters, Rob R; Schrappe, Martin M; Stanulla, Martin M; Cario, Gunnar G; Schewe, Denis M DM
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
Publication Date: 2017-08-04
Variant appearance in text: KRAS: 187G>A; Glu63Lys
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
ATM mutations and E-cadherin expression define sensitivity to EGFR-targeted therapy in colorectal cancer.
Oncotarget
Geißler, Anna-Lena AL; Geißler, Miriam M; Kottmann, Daniel D; Lutz, Lisa L; Fichter, Christiane D CD; Fritsch, Ralph R; Weddeling, Britta B; Makowiec, Frank F; Werner, Martin M; Lassmann, Silke S
PredictSNP2: A Unified Platform for Accurately Evaluating SNP Effects by Exploiting the Different Characteristics of Variants in Distinct Genomic Regions.
Plos Computational Biology
Bendl, Jaroslav J; Musil, Miloš M; Štourač, Jan J; Zendulka, Jaroslav J; Damborský, Jiří J; Brezovský, Jan J
Prognostic and therapeutic role of targetable lesions in B-lineage acute lymphoblastic leukemia without recurrent fusion genes.
Oncotarget
Messina, Monica M; Chiaretti, Sabina S; Wang, Jiguang J; Fedullo, Anna Lucia AL; Peragine, Nadia N; Gianfelici, Valentina V; Piciocchi, Alfonso A; Brugnoletti, Fulvia F; Di Giacomo, Filomena F; Pauselli, Simona S; Holmes, Antony B AB; Puzzolo, Maria Cristina MC; Ceglie, Giulia G; Apicella, Valerio V; Mancini, Marco M; Te Kronnie, Geertruy G; Testi, Anna Maria AM; Vitale, Antonella A; Vignetti, Marco M; Guarini, Anna A; Rabadan, Raul R; Foà, Robin R
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
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
Publication Date: 2015-04-14
Variant appearance in text: KRAS: 187G>A; Glu63Lys