Moyamoya Vasculopathy in Neurofibromatosis Type 1 Pediatric Patients: The Role of Rare Variants of RNF213.
Cancers
Ognibene, Marzia M; Scala, Marcello M; Iacomino, Michele M; Schiavetti, Irene I; Madia, Francesca F; Traverso, Monica M; Guerrisi, Sara S; Di Duca, Marco M; Caroli, Francesco F; Baldassari, Simona S; Tappino, Barbara B; Romano, Ferruccio F; Uva, Paolo P; Vozzi, Diego D; Chelleri, Cristina C; Piatelli, Gianluca G; Diana, Maria Cristina MC; Zara, Federico F; Capra, Valeria V; Pavanello, Marco M; De Marco, Patrizia P
APPLICATION OF THE ACMG/AMP FRAMEWORK TO CAPTURE EVIDENCE RELEVANT TO PREDICTED AND OBSERVED IMPACT ON SPLICING: RECOMMENDATIONS FROM THE CLINGEN SVI SPLICING SUBGROUP.
Medrxiv : The Preprint Server For Health Sciences
Walker, Logan C LC; de la Hoya, Miguel M; Wiggins, George Ar GA; Lindy, Amanda A; Vincent, Lisa M LM; Parsons, Michael M; Canson, Daffodil M DM; Bis-Brewer, Dana D; Cass, Ashley A; Tchourbanov, Alexander A; Zimmermann, Heather H; Byrne, Alicia B AB; Pesaran, Tina T; Karam, Rachid R; Harrison, Steven M SM; , ; Spurdle, Amanda B AB
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: NF1: 1318C>T; Arg440Ter
Genomic patterns of malignant peripheral nerve sheath tumor (MPNST) evolution correlate with clinical outcome and are detectable in cell-free DNA.
Cancer Discovery
Cortes-Ciriano, Isidro I; Steele, Christopher D CD; Piculell, Katherine K; Al-Ibraheemi, Alyaa A; Eulo, Vanessa V; Bui, Marilyn M MM; Chatzipli, Aikaterini A; Dickson, Brendan C BC; Borcherding, Dana C DC; Feber, Andrew A; Galor, Alon A; Hart, Jesse J; Jones, Kevin B KB; Jordan, Justin T JT; Kim, Raymond H RH; Lindsay, Daniel D; Miller, Colin C; Nishida, Yoshihiro Y; Proszek, Paula Z PZ; Serrano, Jonathan J; Sundby, R Taylor RT; Szymanski, Jeffrey J JJ; Ullrich, Nicole J NJ; Viskochil, David D; Wang, Xia X; Snuderl, Matija M; Park, Peter J PJ; Flanagan, Adrienne M AM; Hirbe, Angela C AC; Pillay, Nischalan N; Miller, David T DT
Gallbladder adenocarcinomas undergo subclonal diversification and selection from precancerous lesions to metastatic tumors.
Elife
Kang, Minsu M; Na, Hee Young HY; Ahn, Soomin S; Kim, Ji-Won JW; Lee, Sejoon S; Ahn, Soyeon S; Lee, Ju Hyun JH; Youk, Jeonghwan J; Kim, Haesook T HT; Kim, Kui-Jin KJ; Suh, Koung Jin KJ; Lee, Jun Suh JS; Kim, Se Hyun SH; Kim, Jin Won JW; Kim, Yu Jung YJ; Lee, Keun-Wook KW; Yoon, Yoo-Seok YS; Kim, Jee Hyun JH; Chung, Jin-Haeng JH; Han, Ho-Seong HS; Lee, Jong Seok JS
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
Pan-cancer molecular tumor board experience with biomarker-driven precision immunotherapy.
Npj Precision Oncology
Louie, Bryan H BH; Kato, Shumei S; Kim, Ki Hwan KH; Lim, Hyo Jeong HJ; Okamura, Ryosuke R; Eskander, Ramez N RN; Botta, Gregory G; Patel, Hitendra H; Lee, Suzanna S; Lippman, Scott M SM; Sicklick, Jason K JK; Kurzrock, Razelle R
Increased blood-based intratumor heterogeneity (bITH) is associated with unfavorable outcomes of immune checkpoint inhibitors plus chemotherapy in non-small cell lung cancer.
Bmc Medicine
Zhou, Juan J; Bao, Minwei M; Gao, Guanghui G; Cai, Yiran Y; Wu, Lihong L; Lei, Lei L; Zhao, Jing J; Ji, Xianxiu X; Huang, Ying Y; Su, Chunxia C
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
ACTH-secreting pituitary carcinoma with TP53, NF1, ATRX and PTEN mutations Case report and review of the literature.
Endocrine
Sumislawski, Piotr P; Rotermund, Roman R; Klose, Silke S; Lautenbach, Anne A; Wefers, Annika K AK; Soltwedel, Celina C; Mohammadi, Behnam B; Jacobsen, Frank F; Mawrin, Christian C; Flitsch, Jörg J; Saeger, Wolfgang W
Base editing sensor libraries for high-throughput engineering and functional analysis of cancer-associated single nucleotide variants.
Nature Biotechnology
Sánchez-Rivera, Francisco J FJ; Diaz, Bianca J BJ; Kastenhuber, Edward R ER; Schmidt, Henri H; Katti, Alyna A; Kennedy, Margaret M; Tem, Vincent V; Ho, Yu-Jui YJ; Leibold, Josef J; Paffenholz, Stella V SV; Barriga, Francisco M FM; Chu, Kevan K; Goswami, Sukanya S; Wuest, Alexandra N AN; Simon, Janelle M JM; Tsanov, Kaloyan M KM; Chakravarty, Debyani D; Zhang, Hongxin H; Leslie, Christina S CS; Lowe, Scott W SW; Dow, Lukas E LE
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
Landscape of somatic mutations in breast cancer: new opportunities for targeted therapies in Saudi Arabian patients.
Oncotarget
Barakeh, Duna H DH; Aljelaify, Rasha R; Bashawri, Yara Y; Almutairi, Amal A; Alqubaishi, Fatimah F; Alnamnakani, Mohammed M; Almubarak, Latifa L; Al Naeem, Abdulrahman A; Almushawah, Fatema F; Alrashed, May M; Abedalthagafi, Malak M
Assessment of Clinical Benefit of Integrative Genomic Profiling in Advanced Solid Tumors.
Jama Oncology
Cobain, Erin F EF; Wu, Yi-Mi YM; Vats, Pankaj P; Chugh, Rashmi R; Worden, Francis F; Smith, David C DC; Schuetze, Scott M SM; Zalupski, Mark M MM; Sahai, Vaibhav V; Alva, Ajjai A; Schott, Anne F AF; Caram, Megan E V MEV; Hayes, Daniel F DF; Stoffel, Elena M EM; Jacobs, Michelle F MF; Kumar-Sinha, Chandan C; Cao, Xuhong X; Wang, Rui R; Lucas, David D; Ning, Yu Y; Rabban, Erica E; Bell, Janice J; Camelo-Piragua, Sandra S; Udager, Aaron M AM; Cieslik, Marcin M; Lonigro, Robert J RJ; Kunju, Lakshmi P LP; Robinson, Dan R DR; Talpaz, Moshe M; Chinnaiyan, Arul M AM
Congenital Craniofacial Plexiform Neurofibroma in Neurofibromatosis Type 1.
Diagnostics (Basel, Switzerland)
Cacchione, Antonella A; Carboni, Alessia A; Lodi, Mariachiara M; Vito, Rita De R; Carai, Andrea A; Marrazzo, Antonio A; Macchiaiolo, Marina M; Voicu, Ioan Paul IP; Mastronuzzi, Angela A; Colafati, Giovanna Stefania GS
Ultraviolet radiation drives mutations in a subset of mucosal melanomas.
Nature Communications
Mundra, Piyushkumar A PA; Dhomen, Nathalie N; Rodrigues, Manuel M; Mikkelsen, Lauge Hjorth LH; Cassoux, Nathalie N; Brooks, Kelly K; Valpione, Sara S; Reis-Filho, Jorge S JS; Heegaard, Steffen S; Stern, Marc-Henri MH; Roman-Roman, Sergio S; Marais, Richard R
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
Genomic profiling of newly diagnosed glioblastoma patients and its potential for clinical utility - a prospective, translational study.
Molecular Oncology
Nørøxe, Dorte S DS; Yde, Christina W CW; Østrup, Olga O; Michaelsen, Signe R SR; Schmidt, Ane Y AY; Kinalis, Savvas S; Torp, Mathias H MH; Skjøth-Rasmussen, Jane J; Brennum, Jannick J; Hamerlik, Petra P; Poulsen, Hans S HS; Nielsen, Finn C FC; Lassen, Ulrik U
A risk-associated Active transcriptome phenotype expressed by histologically normal human breast tissue and linked to a pro-tumorigenic adipocyte population.
Breast Cancer Research : Bcr
Kang, Taekyu T; Yau, Christina C; Wong, Christopher K CK; Sanborn, John Z JZ; Newton, Yulia Y; Vaske, Charlie C; Benz, Stephen C SC; Krings, Gregor G; Camarda, Roman R; Henry, Jill E JE; Stuart, Josh J; Powell, Mark M; Benz, Christopher C CC
Melanoma with in-frame deletion of MAP2K1: a distinct molecular subtype of cutaneous melanoma mutually exclusive from BRAF, NRAS, and NF1 mutations.
Modern Pathology : An Official Journal Of The United States And Canadian Academy Of Pathology, Inc
Williams, Erik A EA; Montesion, Meagan M; Shah, Nikunj N; Sharaf, Radwa R; Pavlick, Dean C DC; Sokol, Ethan S ES; Alexander, Brian B; Venstrom, Jeff J; Elvin, Julia A JA; Ross, Jeffrey S JS; Williams, Kevin Jon KJ; Tse, Julie Y JY; Mochel, Mark C MC
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
Clinical and genomic insights into circulating tumor DNA-based alterations across the spectrum of metastatic hormone-sensitive and castrate-resistant prostate cancer.
Ebiomedicine
Kohli, Manish M; Tan, Winston W; Zheng, Tiantian T; Wang, Amy A; Montesinos, Carlos C; Wong, Calven C; Du, Pan P; Jia, Shidong S; Yadav, Siddhartha S; Horvath, Lisa G LG; Mahon, Kate L KL; Kwan, Edmond M EM; Fettke, Heidi H; Yu, Jianjun J; Azad, Arun A AA
Publication Date: 2020-04
Variant appearance in text: NF1: Arg440Ter; rs778405030
Spitz melanoma is a distinct subset of spitzoid melanoma.
Modern Pathology : An Official Journal Of The United States And Canadian Academy Of Pathology, Inc
Raghavan, Shyam S SS; Peternel, Sandra S; Mully, Thaddeus W TW; North, Jeffrey P JP; Pincus, Laura B LB; LeBoit, Philip E PE; McCalmont, Timothy H TH; Bastian, Boris C BC; Yeh, Iwei I
High-intensity sequencing reveals the sources of plasma circulating cell-free DNA variants.
Nature Medicine
Razavi, Pedram P; Li, Bob T BT; Brown, David N DN; Jung, Byoungsok B; Hubbell, Earl E; Shen, Ronglai R; Abida, Wassim W; Juluru, Krishna K; De Bruijn, Ino I; Hou, Chenlu C; Venn, Oliver O; Lim, Raymond R; Anand, Aseem A; Maddala, Tara T; Gnerre, Sante S; Vijaya Satya, Ravi R; Liu, Qinwen Q; Shen, Ling L; Eattock, Nicholas N; Yue, Jeanne J; Blocker, Alexander W AW; Lee, Mark M; Sehnert, Amy A; Xu, Hui H; Hall, Megan P MP; Santiago-Zayas, Angie A; Novotny, William F WF; Isbell, James M JM; Rusch, Valerie W VW; Plitas, George G; Heerdt, Alexandra S AS; Ladanyi, Marc M; Hyman, David M DM; Jones, David R DR; Morrow, Monica M; Riely, Gregory J GJ; Scher, Howard I HI; Rudin, Charles M CM; Robson, Mark E ME; Diaz, Luis A LA; Solit, David B DB; Aravanis, Alexander M AM; Reis-Filho, Jorge S JS
Activating mutations in CSF1R and additional receptor tyrosine kinases in histiocytic neoplasms.
Nature Medicine
Durham, Benjamin H BH; Lopez Rodrigo, Estibaliz E; Picarsic, Jennifer J; Abramson, David D; Rotemberg, Veronica V; De Munck, Steven S; Pannecoucke, Erwin E; Lu, Sydney X SX; Pastore, Alessandro A; Yoshimi, Akihide A; Mandelker, Diana D; Ceyhan-Birsoy, Ozge O; Ulaner, Gary A GA; Walsh, Michael M; Yabe, Mariko M; Petrova-Drus, Kseniya K; Arcila, Maria E ME; Ladanyi, Marc M; Solit, David B DB; Berger, Michael F MF; Hyman, David M DM; Lacouture, Mario E ME; Erickson, Caroline C; Saganty, Ruth R; Ki, Michelle M; Dunkel, Ira J IJ; Santa-María López, Vicente V; Mora, Jaume J; Haroche, Julien J; Emile, Jean-Francois JF; Decaux, Olivier O; Geissmann, Frederic F; Savvides, Savvas N SN; Drilon, Alexander A; Diamond, Eli L EL; Abdel-Wahab, Omar O
Pan-cancer whole-genome analyses of metastatic solid tumours.
Nature
Priestley, Peter P; Baber, Jonathan J; Lolkema, Martijn P MP; Steeghs, Neeltje N; de Bruijn, Ewart E; Shale, Charles C; Duyvesteyn, Korneel K; Haidari, Susan S; van Hoeck, Arne A; Onstenk, Wendy W; Roepman, Paul P; Voda, Mircea M; Bloemendal, Haiko J HJ; Tjan-Heijnen, Vivianne C G VCG; van Herpen, Carla M L CML; Labots, Mariette M; Witteveen, Petronella O PO; Smit, Egbert F EF; Sleijfer, Stefan S; Voest, Emile E EE; Cuppen, Edwin E
High-sensitivity microsatellite instability assessment for the detection of mismatch repair defects in normal tissue of biallelic germline mismatch repair mutation carriers.
Journal Of Medical Genetics
González-Acosta, Maribel M; Marín, Fátima F; Puliafito, Benjamin B; Bonifaci, Nuria N; Fernández, Anna A; Navarro, Matilde M; Salvador, Hector H; Balaguer, Francesc F; Iglesias, Silvia S; Velasco, Angela A; Grau Garces, Elia E; Moreno, Victor V; Gonzalez-Granado, Luis Ignacio LI; Guerra-García, Pilar P; Ayala, Rosa R; Florkin, Benoît B; Kratz, Christian C; Ripperger, Tim T; Rosenbaum, Thorsten T; Januszkiewicz-Lewandowska, Danuta D; Azizi, Amedeo A AA; Ragab, Iman I; Nathrath, Michaela M; Pander, Hans-Jürgen HJ; Lobitz, Stephan S; Suerink, Manon M; Dahan, Karin K; Imschweiler, Thomas T; Demirsoy, Ugur U; Brunet, Joan J; Lázaro, Conxi C; Rueda, Daniel D; Wimmer, Katharina K; Capellá, Gabriel G; Pineda, Marta M
SDHC epi-mutation testing in gastrointestinal stromal tumours and related tumours in clinical practice.
Scientific Reports
Casey, Ruth T RT; Ten Hoopen, Rogier R; Ochoa, Eguzkine E; Challis, Benjamin G BG; Whitworth, James J; Smith, Philip S PS; Martin, Jose Ezequiel JE; Clark, Graeme R GR; Rodger, Fay F; Maranian, Mel M; Allinson, Kieren K; Madhu, Basetti B; Roberts, Thomas T; Campos, Luis L; Anstee, Joanne J; Park, Soo-Mi SM; Marker, Alison A; Watts, Colin C; Bulusu, Venkata R VR; Giger, Olivier T OT; Maher, Eamonn R ER
Publication Date: 2019-07-15
Variant appearance in text: NF1: 1318C>T; Arg440Ter
Optimizing Genetic Workup in Pheochromocytoma and Paraganglioma by Integrating Diagnostic and Research Approaches.
Cancers
Gieldon, Laura L; William, Doreen D; Hackmann, Karl K; Jahn, Winnie W; Jahn, Arne A; Wagner, Johannes J; Rump, Andreas A; Bechmann, Nicole N; Nölting, Svenja S; Knösel, Thomas T; Gudziol, Volker V; Constantinescu, Georgiana G; Masjkur, Jimmy J; Beuschlein, Felix F; Timmers, Henri Jlm HJ; Canu, Letizia L; Pacak, Karel K; Robledo, Mercedes M; Aust, Daniela D; Schröck, Evelin E; Eisenhofer, Graeme G; Richter, Susan S; Klink, Barbara B