Immunogenomic analysis of human brain metastases reveals diverse immune landscapes across genetically distinct tumors.
Cell Reports. Medicine
Álvarez-Prado, Ángel F ÁF; Maas, Roeltje R RR; Soukup, Klara K; Klemm, Florian F; Kornete, Mara M; Krebs, Fanny S FS; Zoete, Vincent V; Berezowska, Sabina S; Brouland, Jean-Philippe JP; Hottinger, Andreas F AF; Daniel, Roy T RT; Hegi, Monika E ME; Joyce, Johanna A JA
Human metastatic cholangiocarcinoma patient-derived xenografts and tumoroids for preclinical drug evaluation.
Clinical Cancer Research : An Official Journal Of The American Association For Cancer Research
Serra-Camprubí, Queralt Q; Verdaguer, Helena H; Oliveros, Winona W; Lupión-Garcia, Núria N; Llop-Guevara, Alba A; Molina, Cristina C; Vila-Casadesús, Maria M; Turpin, Anthony A; Neuzillet, Cindy C; Frigola, Joan J; Querol, Jessica J; Yáñez-Bartolomé, Mariana M; Castet, Florian F; Fabregat-Franco, Carles C; Escudero-Iriarte, Carmen C; Escorihuela, Marta M; Arenas, Enrique J EJ; Bernado-Morales, Cristina C; Haro, Noemí N; Giles, Francis J FJ; Pozo, Oscar J OJ; Miquel, Josep M JM; Nuciforo, Paolo G PG; Vivancos, Ana A; Melé, Marta M; Serra, Violeta V; Arribas, Joaquín J; Tabernero, Josep J; Peiró, Sandra S; Macarulla, Teresa T; Tian, Tian V TV
Publication Date: 2022-11-14
Variant appearance in text: NOTCH2: 7223T>A; L2408H
Follicular lymphoma grade 3B and diffuse large B-cell lymphoma present a histopathological and molecular continuum lacking features of progression/ transformation.
Haematologica
Koch, Karoline K; Richter, Julia J; Hanel, Christoph C; Huttmann, Andreas A; Duhrsen, Ulrich U; Klapper, Wolfram W
Publication Date: 2022-09-01
Variant appearance in text: NOTCH2: 7223T>A; Leu2408His; rs35586704
Comprehensive Genetic Analysis of 128 Candidate Genes in a Cohort With Idiopathic, Severe, or Familial Osteoporosis.
Journal Of The Endocrine Society
Rocha-Braz, Manuela G M MGM; França, Monica M MM; Fernandes, Adriana M AM; Lerario, Antonio M AM; Zanardo, Evelin A EA; de Santana, Lucas S LS; Kulikowski, Leslie D LD; Martin, Regina M RM; Mendonca, Berenice B BB; Ferraz-de-Souza, Bruno B
Neonatal Cholestasis Over Time: Changes in Epidemiology and Outcome in a Cohort of 154 Patients From a Portuguese Tertiary Center.
Frontiers In Pediatrics
Santos Silva, Ermelinda E; Almeida, Alexandra A; Frutuoso, Simão S; Martins, Esmeralda E; Valente, Maria João MJ; Santos-Silva, Alice A; Lopes, Ana Isabel AI
Publication Date: 2020
Variant appearance in text: NOTCH2: 7223T>A; Leu2408His
IGLV3-21 is an inherited risk factor for CLL through the acquisition of a single-point mutation enabling autonomous BCR signaling.
Proceedings Of The National Academy Of Sciences Of The United States Of America
Maity, Palash C PC; Bilal, Mayas M; Koning, Marvyn T MT; Young, Marc M; van Bergen, Cornelis A M CAM; Renna, Valerio V; Nicolò, Antonella A; Datta, Moumita M; Gentner-Göbel, Eva E; Barendse, Rob S RS; Somers, Sebastiaan F SF; de Groen, Ruben A L RAL; Vermaat, Joost S P JSP; Steinbrecher, Daniela D; Schneider, Christof C; Tausch, Eugen E; Bittolo, Tamara T; Bomben, Riccardo R; Mazzarello, Andrea Nicola AN; Del Poeta, Giovanni G; Kroes, Wilma G M WGM; van Wezel, J Tom JT; Imkeller, Katharina K; Busse, Christian E CE; Degano, Massimo M; Bakchoul, Tamam T; Schulz, Axel Ronald AR; Mei, Henrik H; Ghia, Paolo P; Kotta, Konstantia K; Stamatopoulos, Kostas K; Wardemann, Hedda H; Zucchetto, Antonella A; Chiorazzi, Nicholas N; Gattei, Valter V; Stilgenbauer, Stephan S; Veelken, Hendrik H; Jumaa, Hassan H
Genomics of lethal prostate cancer at diagnosis and castration resistance.
The Journal Of Clinical Investigation
Mateo, Joaquin J; Seed, George G; Bertan, Claudia C; Rescigno, Pasquale P; Dolling, David D; Figueiredo, Ines I; Miranda, Susana S; Nava Rodrigues, Daniel D; Gurel, Bora B; Clarke, Matthew M; Atkin, Mark M; Chandler, Rob R; Messina, Carlo C; Sumanasuriya, Semini S; Bianchini, Diletta D; Barrero, Maialen M; Petermolo, Antonella A; Zafeiriou, Zafeiris Z; Fontes, Mariane M; Perez-Lopez, Raquel R; Tunariu, Nina N; Fulton, Ben B; Jones, Robert R; McGovern, Ursula U; Ralph, Christy C; Varughese, Mohini M; Parikh, Omi O; Jain, Suneil S; Elliott, Tony T; Sandhu, Shahneen S; Porta, Nuria N; Hall, Emma E; Yuan, Wei W; Carreira, Suzanne S; de Bono, Johann S JS
Publication Date: 2020-04-01
Variant appearance in text: NOTCH2: 7223T>A; L2408H; rs35586704
The molecular landscape of ETMR at diagnosis and relapse.
Nature
Lambo, Sander S; Gröbner, Susanne N SN; Rausch, Tobias T; Waszak, Sebastian M SM; Schmidt, Christin C; Gorthi, Aparna A; Romero, July Carolina JC; Mauermann, Monika M; Brabetz, Sebastian S; Krausert, Sonja S; Buchhalter, Ivo I; Koster, Jan J; Zwijnenburg, Danny A DA; Sill, Martin M; Hübner, Jens-Martin JM; Mack, Norman N; Schwalm, Benjamin B; Ryzhova, Marina M; Hovestadt, Volker V; Papillon-Cavanagh, Simon S; Chan, Jennifer A JA; Landgraf, Pablo P; Ho, Ben B; Milde, Till T; Witt, Olaf O; Ecker, Jonas J; Sahm, Felix F; Sumerauer, David D; Ellison, David W DW; Orr, Brent A BA; Darabi, Anna A; Haberler, Christine C; Figarella-Branger, Dominique D; Wesseling, Pieter P; Schittenhelm, Jens J; Remke, Marc M; Taylor, Michael D MD; Gil-da-Costa, Maria J MJ; Łastowska, Maria M; Grajkowska, Wiesława W; Hasselblatt, Martin M; Hauser, Peter P; Pietsch, Torsten T; Uro-Coste, Emmanuelle E; Bourdeaut, Franck F; Masliah-Planchon, Julien J; Rigau, Valérie V; Alexandrescu, Sanda S; Wolf, Stephan S; Li, Xiao-Nan XN; Schüller, Ulrich U; Snuderl, Matija M; Karajannis, Matthias A MA; Giangaspero, Felice F; Jabado, Nada N; von Deimling, Andreas A; Jones, David T W DTW; Korbel, Jan O JO; von Hoff, Katja K; Lichter, Peter P; Huang, Annie A; Bishop, Alexander J R AJR; Pfister, Stefan M SM; Korshunov, Andrey A; Kool, Marcel M
Publication Date: 2019-12
Variant appearance in text: NOTCH2: L2408H; rs35586704
Clinical utility of custom-designed NGS panel testing in pediatric tumors.
Genome Medicine
Surrey, Lea F LF; MacFarland, Suzanne P SP; Chang, Fengqi F; Cao, Kajia K; Rathi, Komal S KS; Akgumus, Gozde T GT; Gallo, Daniel D; Lin, Fumin F; Gleason, Adam A; Raman, Pichai P; Aplenc, Richard R; Bagatell, Rochelle R; Minturn, Jane J; Mosse, Yael Y; Santi, Mariarita M; Tasian, Sarah K SK; Waanders, Angela J AJ; Sarmady, Mahdi M; Maris, John M JM; Hunger, Stephen P SP; Li, Marilyn M MM
Publication Date: 2019-05-28
Variant appearance in text: NOTCH2: 7223T>A; L2408H
Identifying Extrinsic versus Intrinsic Drivers of Variation in Cell Behavior in Human iPSC Lines from Healthy Donors.
Cell Reports
Vigilante, Alessandra A; Laddach, Anna A; Moens, Nathalie N; Meleckyte, Ruta R; Leha, Andreas A; Ghahramani, Arsham A; Culley, Oliver J OJ; Kathuria, Annie A; Hurling, Chloe C; Vickers, Alice A; Wiseman, Erika E; Tewary, Mukul M; Zandstra, Peter W PW; , ; Durbin, Richard R; Fraternali, Franca F; Stegle, Oliver O; Birney, Ewan E; Luscombe, Nicholas M NM; Danovi, Davide D; Watt, Fiona M FM
PRIMA-1MET-induced neuroblastoma cell death is modulated by p53 and mycn through glutathione level.
Journal Of Experimental & Clinical Cancer Research : Cr
Mlakar, Vid V; Jurkovic Mlakar, Simona S; Lesne, Laurence L; Marino, Denis D; Rathi, Komal S KS; Maris, John M JM; Ansari, Marc M; Gumy-Pause, Fabienne F
Sewda, Anshuman A; White, Sierra R SR; Erazo, Monica M; Hao, Ke K; García-Fructuoso, Gemma G; Fernández-Rodriguez, Ivette I; Heuzé, Yann Y; Richtsmeier, Joan T JT; Romitti, Paul A PA; Reva, Boris B; Jabs, Ethylin Wang EW; Peter, Inga I
Publication Date: 2019-03
Variant appearance in text: NOTCH2: 7223T>A; Leu2408His; rs35586704
Genetic and transcriptional evolution alters cancer cell line drug response.
Nature
Ben-David, Uri U; Siranosian, Benjamin B; Ha, Gavin G; Tang, Helen H; Oren, Yaara Y; Hinohara, Kunihiko K; Strathdee, Craig A CA; Dempster, Joshua J; Lyons, Nicholas J NJ; Burns, Robert R; Nag, Anwesha A; Kugener, Guillaume G; Cimini, Beth B; Tsvetkov, Peter P; Maruvka, Yosef E YE; O'Rourke, Ryan R; Garrity, Anthony A; Tubelli, Andrew A AA; Bandopadhayay, Pratiti P; Tsherniak, Aviad A; Vazquez, Francisca F; Wong, Bang B; Birger, Chet C; Ghandi, Mahmoud M; Thorner, Aaron R AR; Bittker, Joshua A JA; Meyerson, Matthew M; Getz, Gad G; Beroukhim, Rameen R; Golub, Todd R TR
Publication Date: 2018-08
Variant appearance in text: NOTCH2: 7223T>A; L2408H; rs35586704
Complex Landscape of Germline Variants in Brazilian Patients With Hereditary and Early Onset Breast Cancer.
Frontiers In Genetics
Torrezan, Giovana T GT; de Almeida, Fernanda G Dos Santos R FGDSR; Figueiredo, Márcia C P MCP; Barros, Bruna D de Figueiredo BDF; de Paula, Cláudia A A CAA; Valieris, Renan R; de Souza, Jorge E S JES; Ramalho, Rodrigo F RF; da Silva, Felipe C C FCC; Ferreira, Elisa N EN; de Nóbrega, Amanda F AF; Felicio, Paula S PS; Achatz, Maria I MI; de Souza, Sandro J SJ; Palmero, Edenir I EI; Carraro, Dirce M DM
Publication Date: 2018
Variant appearance in text: NOTCH2: 7223T>A; Leu2408His; rs35586704
Phase Ib study evaluating safety and clinical activity of the anti-HER3 antibody lumretuzumab combined with the anti-HER2 antibody pertuzumab and paclitaxel in HER3-positive, HER2-low metastatic breast cancer.
Investigational New Drugs
Schneeweiss, Andreas A; Park-Simon, Tjoung-Won TW; Albanell, Joan J; Lassen, Ulrik U; Cortés, Javier J; Dieras, Veronique V; May, Marcus M; Schindler, Christoph C; Marmé, Frederik F; Cejalvo, Juan Miguel JM; Martinez-Garcia, Maria M; Gonzalez, Iria I; Lopez-Martin, Jose J; Welt, Anja A; Levy, Christelle C; Joly, Florence F; Michielin, Francesca F; Jacob, Wolfgang W; Adessi, Céline C; Moisan, Annie A; Meneses-Lorente, Georgina G; Racek, Tomas T; James, Ian I; Ceppi, Maurizio M; Hasmann, Max M; Weisser, Martin M; Cervantes, Andrés A
Exploring digenic inheritance in arrhythmogenic cardiomyopathy.
Bmc Medical Genetics
König, Eva E; Volpato, Claudia Béu CB; Motta, Benedetta Maria BM; Blankenburg, Hagen H; Picard, Anne A; Pramstaller, Peter P; Casella, Michela M; Rauhe, Werner W; Pompilio, Giulio G; Meraviglia, Viviana V; Domingues, Francisco S FS; Sommariva, Elena E; Rossini, Alessandra A
A knowledge-based framework for the discovery of cancer-predisposing variants using large-scale sequencing breast cancer data.
Breast Cancer Research : Bcr
Melloni, Giorgio E M GEM; Mazzarella, Luca L; Bernard, Loris L; Bodini, Margherita M; Russo, Anna A; Luzi, Lucilla L; Pelicci, Pier Giuseppe PG; Riva, Laura L
Publication Date: 2017-05-31
Variant appearance in text: NOTCH2: L2408H; rs35586704
Benchmarking of Whole Exome Sequencing and Ad Hoc Designed Panels for Genetic Testing of Hereditary Cancer.
Scientific Reports
Feliubadaló, Lídia L; Tonda, Raúl R; Gausachs, Mireia M; Trotta, Jean-Rémi JR; Castellanos, Elisabeth E; López-Doriga, Adriana A; Teulé, Àlex À; Tornero, Eva E; Del Valle, Jesús J; Gel, Bernat B; Gut, Marta M; Pineda, Marta M; González, Sara S; Menéndez, Mireia M; Navarro, Matilde M; Capellá, Gabriel G; Gut, Ivo I; Serra, Eduard E; Brunet, Joan J; Beltran, Sergi S; Lázaro, Conxi C
Publication Date: 2017-01-04
Variant appearance in text: NOTCH2: 7223T>A; Leu2408His
Sacral agenesis: a pilot whole exome sequencing and copy number study.
Bmc Medical Genetics
Porsch, Robert M RM; Merello, Elisa E; De Marco, Patrizia P; Cheng, Guo G; Rodriguez, Laura L; So, Manting M; Sham, Pak C PC; Tam, Paul K PK; Capra, Valeria V; Cherny, Stacey S SS; Garcia-Barcelo, Maria-Mercè MM; Campbell, Desmond D DD
Publication Date: 2016-12-22
Variant appearance in text: NOTCH2: 7223T>A; L2408H; rs35586704
Enrichment of Targetable Mutations in the Relapsed Neuroblastoma Genome.
Plos Genetics
Padovan-Merhar, Olivia M OM; Raman, Pichai P; Ostrovnaya, Irina I; Kalletla, Karthik K; Rubnitz, Kaitlyn R KR; Sanford, Eric M EM; Ali, Siraj M SM; Miller, Vincent A VA; Mossé, Yael P YP; Granger, Meaghan P MP; Weiss, Brian B; Maris, John M JM; Modak, Shakeel S
Publication Date: 2016-12
Variant appearance in text: NOTCH2: 7223T>A; L2408H
Three-dimensional modelling identifies novel genetic dependencies associated with breast cancer progression in the isogenic MCF10 model.
The Journal Of Pathology
Maguire, Sarah L SL; Peck, Barrie B; Wai, Patty T PT; Campbell, James J; Barker, Holly H; Gulati, Aditi A; Daley, Frances F; Vyse, Simon S; Huang, Paul P; Lord, Christopher J CJ; Farnie, Gillian G; Brennan, Keith K; Natrajan, Rachael R
Publication Date: 2016-11
Variant appearance in text: NOTCH2: L2408H; rs35586704
The impact of tumor profiling approaches and genomic data strategies for cancer precision medicine.
Genome Medicine
Garofalo, Andrea A; Sholl, Lynette L; Reardon, Brendan B; Taylor-Weiner, Amaro A; Amin-Mansour, Ali A; Miao, Diana D; Liu, David D; Oliver, Nelly N; MacConaill, Laura L; Ducar, Matthew M; Rojas-Rudilla, Vanesa V; Giannakis, Marios M; Ghazani, Arezou A; Gray, Stacy S; Janne, Pasi P; Garber, Judy J; Joffe, Steve S; Lindeman, Neal N; Wagle, Nikhil N; Garraway, Levi A LA; Van Allen, Eliezer M EM
Publication Date: 2016-07-26
Variant appearance in text: NOTCH2: 7223T>A; L2408H; rs35586704
De Novo and Rare Variants at Multiple Loci Support the Oligogenic Origins of Atrioventricular Septal Heart Defects.
Plos Genetics
Priest, James R JR; Osoegawa, Kazutoyo K; Mohammed, Nebil N; Nanda, Vivek V; Kundu, Ramendra R; Schultz, Kathleen K; Lammer, Edward J EJ; Girirajan, Santhosh S; Scheetz, Todd T; Waggott, Daryl D; Haddad, Francois F; Reddy, Sushma S; Bernstein, Daniel D; Burns, Trudy T; Steimle, Jeffrey D JD; Yang, Xinan H XH; Moskowitz, Ivan P IP; Hurles, Matthew M; Lifton, Richard P RP; Nickerson, Debbie D; Bamshad, Michael M; Eichler, Evan E EE; Mital, Seema S; Sheffield, Val V; Quertermous, Thomas T; Gelb, Bruce D BD; Portman, Michael M; Ashley, Euan A EA
Recurrent Coding Sequence Variation Explains Only A Small Fraction of the Genetic Architecture of Colorectal Cancer.
Scientific Reports
Timofeeva, Maria N MN; Kinnersley, Ben B; Farrington, Susan M SM; Whiffin, Nicola N; Palles, Claire C; Svinti, Victoria V; Lloyd, Amy A; Gorman, Maggie M; Ooi, Li-Yin LY; Hosking, Fay F; Barclay, Ella E; Zgaga, Lina L; Dobbins, Sara S; Martin, Lynn L; Theodoratou, Evropi E; Broderick, Peter P; Tenesa, Albert A; Smillie, Claire C; Grimes, Graeme G; Hayward, Caroline C; Campbell, Archie A; Porteous, David D; Deary, Ian J IJ; Harris, Sarah E SE; Northwood, Emma L EL; Barrett, Jennifer H JH; Smith, Gillian G; Wolf, Roland R; Forman, David D; Morreau, Hans H; Ruano, Dina D; Tops, Carli C; Wijnen, Juul J; Schrumpf, Melanie M; Boot, Arnoud A; Vasen, Hans F A HF; Hes, Frederik J FJ; van Wezel, Tom T; Franke, Andre A; Lieb, Wolgang W; Schafmayer, Clemens C; Hampe, Jochen J; Buch, Stephan S; Propping, Peter P; Hemminki, Kari K; Försti, Asta A; Westers, Helga H; Hofstra, Robert R; Pinheiro, Manuela M; Pinto, Carla C; Teixeira, Manuel M; Ruiz-Ponte, Clara C; Fernández-Rozadilla, Ceres C; Carracedo, Angel A; Castells, Antoni A; Castellví-Bel, Sergi S; Campbell, Harry H; Bishop, D Timothy DT; Tomlinson, Ian P M IP; Dunlop, Malcolm G MG; Houlston, Richard S RS
Germline variation in cancer-susceptibility genes in a healthy, ancestrally diverse cohort: implications for individual genome sequencing.
Plos One
Bodian, Dale L DL; McCutcheon, Justine N JN; Kothiyal, Prachi P; Huddleston, Kathi C KC; Iyer, Ramaswamy K RK; Vockley, Joseph G JG; Niederhuber, John E JE
Publication Date: 2014
Variant appearance in text: NOTCH2: L2408H; rs35586704
Integrated analysis of germline and somatic variants in ovarian cancer.
Nature Communications
Kanchi, Krishna L KL; Johnson, Kimberly J KJ; Lu, Charles C; McLellan, Michael D MD; Leiserson, Mark D M MD; Wendl, Michael C MC; Zhang, Qunyuan Q; Koboldt, Daniel C DC; Xie, Mingchao M; Kandoth, Cyriac C; McMichael, Joshua F JF; Wyczalkowski, Matthew A MA; Larson, David E DE; Schmidt, Heather K HK; Miller, Christopher A CA; Fulton, Robert S RS; Spellman, Paul T PT; Mardis, Elaine R ER; Druley, Todd E TE; Graubert, Timothy A TA; Goodfellow, Paul J PJ; Raphael, Benjamin J BJ; Wilson, Richard K RK; Ding, Li L
Rare variants in CFI, C3 and C9 are associated with high risk of advanced age-related macular degeneration.
Nature Genetics
Seddon, Johanna M JM; Yu, Yi Y; Miller, Elizabeth C EC; Reynolds, Robyn R; Tan, Perciliz L PL; Gowrisankar, Sivakumar S; Goldstein, Jacqueline I JI; Triebwasser, Michael M; Anderson, Holly E HE; Zerbib, Jennyfer J; Kavanagh, David D; Souied, Eric E; Katsanis, Nicholas N; Daly, Mark J MJ; Atkinson, John P JP; Raychaudhuri, Soumya S
Publication Date: 2013-11
Variant appearance in text: NOTCH2: L2408H; rs35586704