Whole-exome Sequencing of Nigerian Prostate Tumors from the Prostate Cancer Transatlantic Consortium (CaPTC) Reveals DNA Repair Genes Associated with African Ancestry.
Cancer Research Communications
White, Jason A JA; Kaninjing, Ernest T ET; Adeniji, Kayode A KA; Jibrin, Paul P; Obafunwa, John O JO; Ogo, Chidiebere N CN; Mohammed, Faruk F; Popoola, Ademola A; Fatiregun, Omolara A OA; Oluwole, Olabode P OP; Karanam, Balasubramanyam B; Elhussin, Isra I; Ambs, Stefan S; Tang, Wei W; Davis, Melissa M; Polak, Paz P; Campbell, Moray J MJ; Brignole, Kathryn R KR; Rotimi, Solomon O SO; Dean-Colomb, Windy W; Odedina, Folake T FT; Martin, Damali N DN; Yates, Clayton C
Publication Date: 2022-09
Variant appearance in text: ATM: 7327C>T; Arg2443Ter; rs121434220
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
Integrated gene analyses of de novo variants from 46,612 trios with autism and developmental disorders.
Proceedings Of The National Academy Of Sciences Of The United States Of America
Wang, Tianyun T; Kim, Chang N CN; Bakken, Trygve E TE; Gillentine, Madelyn A MA; Henning, Barbara B; Mao, Yafei Y; Gilissen, Christian C; , ; Nowakowski, Tomasz J TJ; Eichler, Evan E EE
Publication Date: 2022-11-15
Variant appearance in text: ATM: 7327C>T; Arg2443*
A single arm phase Ib/II trial of first-line pembrolizumab, trastuzumab and chemotherapy for advanced HER2-positive gastric cancer.
Nature Communications
Lee, Choong-Kun CK; Rha, Sun Young SY; Kim, Hyo Song HS; Jung, Minkyu M; Kang, Beodeul B; Che, Jingmin J; Kwon, Woo Sun WS; Park, Sejung S; Bae, Woo Kyun WK; Koo, Dong-Hoe DH; Shin, Su-Jin SJ; Kim, Hyunki H; Jeung, Hei-Cheul HC; Zang, Dae Young DY; Lee, Sang Kil SK; Nam, Chung Mo CM; Chung, Hyun Cheol HC
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
JAK3 mutations and mitochondrial apoptosis resistance in T-cell acute lymphoblastic leukemia.
Leukemia
Bodaar, Kimberly K; Yamagata, Natsuko N; Barthe, Anais A; Landrigan, Jack J; Chonghaile, Triona Ni TN; Burns, Melissa M; Stevenson, Kristen E KE; Devidas, Meenakshi M; Loh, Mignon L ML; Hunger, Stephen P SP; Wood, Brent B; Silverman, Lewis B LB; Teachey, David T DT; Meijerink, Jules P JP; Letai, Anthony A; Gutierrez, Alejandro A
El Jabbour, Tony T; Misyura, Maksym M; Cowzer, Darren D; Zimmermann, Michal M; Rimkunas, Victoria V; Marra, Antonio A; Derakhshan, Fatemeh F; Selenica, Pier P; Parilla, Megan M; Setton, Jeremy S JS; Ceyhan-Birsoy, Ozge O; Kemel, Yelena Y; Catchings, Amanda A; Ranganathan, Megha M; Ku, Geoffrey Y GY; Janjigian, Yelena Y YY; Zinda, Michael M; Koehler, Maria M; Stadler, Zsofia Z; Shia, Jinru J; Reis-Filho, Jorge S JS; Mandelker, Diana D
Publication Date: 2022-05-09
Variant appearance in text: ATM: 7327C>T; Arg2443*; rs121434220
Identification of copy number variation-driven molecular subtypes informative for prognosis and treatment in pancreatic adenocarcinoma of a Chinese cohort.
Identification of copy number variation-driven molecular subtypes informative for prognosis and treatment in pancreatic adenocarcinoma of a Chinese cohort.
The Importance of Extended Analysis Using Current Molecular Genetic Methods Based on the Example of a Cohort of 228 Patients with Hereditary Breast and Ovarian Cancer Syndrome.
Genes
Resch, Luise D LD; Hotz, Alrun A; Zimmer, Andreas D AD; Komlosi, Katalin K; Singh, Nina N; Tzschach, Andreas A; Windfuhr-Blum, Marisa M; Juhasz-Boess, Ingolf I; Erbes, Thalia T; Fischer, Judith J; Alter, Svenja S
Publication Date: 2021-09-24
Variant appearance in text: ATM: 7327C>T; Arg2443*; rs121434220
Rare Germline Variants in ATM Predispose to Prostate Cancer: A PRACTICAL Consortium Study.
European Urology Oncology
Karlsson, Questa Q; Brook, Mark N MN; Dadaev, Tokhir T; Wakerell, Sarah S; Saunders, Edward J EJ; Muir, Kenneth K; Neal, David E DE; Giles, Graham G GG; MacInnis, Robert J RJ; Thibodeau, Stephen N SN; McDonnell, Shannon K SK; Cannon-Albright, Lisa L; Teixeira, Manuel R MR; Paulo, Paula P; Cardoso, Marta M; Huff, Chad C; Li, Donghui D; Yao, Yu Y; Scheet, Paul P; Permuth, Jennifer B JB; Stanford, Janet L JL; Dai, James Y JY; Ostrander, Elaine A EA; Cussenot, Olivier O; Cancel-Tassin, Géraldine G; Hoegel, Josef J; Herkommer, Kathleen K; Schleutker, Johanna J; Tammela, Teuvo L J TLJ; Rathinakannan, Venkat V; Sipeky, Csilla C; Wiklund, Fredrik F; Grönberg, Henrik H; Aly, Markus M; Isaacs, William B WB; Dickinson, Jo L JL; FitzGerald, Liesel M LM; Chua, Melvin L K MLK; Nguyen-Dumont, Tu T; , ; Schaid, Daniel J DJ; Southey, Melissa C MC; Eeles, Rosalind A RA; Kote-Jarai, Zsofia Z
mTOR Signaling and SREBP Activity Increase FADS2 Expression and Can Activate Sapienate Biosynthesis.
Cell Reports
Triki, Mouna M; Rinaldi, Gianmarco G; Planque, Melanie M; Broekaert, Dorien D; Winkelkotte, Alina M AM; Maier, Carina R CR; Janaki Raman, Sudha S; Vandekeere, Anke A; Van Elsen, Joke J; Orth, Martin F MF; Grünewald, Thomas G P TGP; Schulze, Almut A; Fendt, Sarah-Maria SM
Histomorphology of pancreatic cancer in patients with inherited ATM serine/threonine kinase pathogenic variants.
Modern Pathology : An Official Journal Of The United States And Canadian Academy Of Pathology, Inc
Hutchings, Danielle D; Jiang, Zhengdong Z; Skaro, Michael M; Weiss, Matthew J MJ; Wolfgang, Christopher L CL; Makary, Martin A MA; He, Jin J; Cameron, John L JL; Zheng, Lei L; Klimstra, David S DS; Brand, Randall E RE; Singhi, Aatur D AD; Goggins, Michael M; Klein, Alison P AP; Roberts, Nicholas J NJ; Hruban, Ralph H RH
Molecular profiling of cancer patients enables personalized combination therapy: the I-PREDICT study.
Nature Medicine
Sicklick, Jason K JK; Kato, Shumei S; Okamura, Ryosuke R; Schwaederle, Maria M; Hahn, Michael E ME; Williams, Casey B CB; De, Pradip P; Krie, Amy A; Piccioni, David E DE; Miller, Vincent A VA; Ross, Jeffrey S JS; Benson, Adam A; Webster, Jennifer J; Stephens, Philip J PJ; Lee, J Jack JJ; Fanta, Paul T PT; Lippman, Scott M SM; Leyland-Jones, Brian B; Kurzrock, Razelle R
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
Publication Date: 2019-02-07
Variant appearance in text: ATM: R2443X; rs121434220
PRC2 loss induces chemoresistance by repressing apoptosis in T cell acute lymphoblastic leukemia.
The Journal Of Experimental Medicine
Ariës, Ingrid M IM; Bodaar, Kimberly K; Karim, Salmaan A SA; Chonghaile, Triona Ni TN; Hinze, Laura L; Burns, Melissa A MA; Pfirrmann, Maren M; Degar, James J; Landrigan, Jack T JT; Balbach, Sebastian S; Peirs, Sofie S; Menten, Björn B; Isenhart, Randi R; Stevenson, Kristen E KE; Neuberg, Donna S DS; Devidas, Meenakshi M; Loh, Mignon L ML; Hunger, Stephen P SP; Teachey, David T DT; Rabin, Karen R KR; Winter, Stuart S SS; Dunsmore, Kimberly P KP; Wood, Brent L BL; Silverman, Lewis B LB; Sallan, Stephen E SE; Van Vlierberghe, Pieter P; Orkin, Stuart H SH; Knoechel, Birgit B; Letai, Anthony G AG; Gutierrez, Alejandro A
Somatic POLE exonuclease domain mutations are early events in sporadic endometrial and colorectal carcinogenesis, determining driver mutational landscape, clonal neoantigen burden and immune response.
The Journal Of Pathology
Temko, Daniel D; Van Gool, Inge C IC; Rayner, Emily E; Glaire, Mark M; Makino, Seiko S; Brown, Matthew M; Chegwidden, Laura L; Palles, Claire C; Depreeuw, Jeroen J; Beggs, Andrew A; Stathopoulou, Chaido C; Mason, John J; Baker, Ann-Marie AM; Williams, Marc M; Cerundolo, Vincenzo V; Rei, Margarida M; Taylor, Jenny C JC; Schuh, Anna A; Ahmed, Ahmed A; Amant, Frédéric F; Lambrechts, Diether D; Smit, Vincent Thbm VT; Bosse, Tjalling T; Graham, Trevor A TA; Church, David N DN; Tomlinson, Ian I
Racial Disparities in the Molecular Landscape of Cancer.
Anticancer Research
Heath, Elisabeth I EI; Lynce, Filipa F; Xiu, Joanne J; Ellerbrock, Angela A; Reddy, Sandeep K SK; Obeid, Elias E; Liu, Stephen V SV; Bollig-Fischer, Aliccia A; Separovic, Duska D; Vanderwalde, Ari A
Pan-cancer genome and transcriptome analyses of 1,699 paediatric leukaemias and solid tumours.
Nature
Ma, Xiaotu X; Liu, Yu Y; Liu, Yanling Y; Alexandrov, Ludmil B LB; Edmonson, Michael N MN; Gawad, Charles C; Zhou, Xin X; Li, Yongjin Y; Rusch, Michael C MC; Easton, John J; Huether, Robert R; Gonzalez-Pena, Veronica V; Wilkinson, Mark R MR; Hermida, Leandro C LC; Davis, Sean S; Sioson, Edgar E; Pounds, Stanley S; Cao, Xueyuan X; Ries, Rhonda E RE; Wang, Zhaoming Z; Chen, Xiang X; Dong, Li L; Diskin, Sharon J SJ; Smith, Malcolm A MA; Guidry Auvil, Jaime M JM; Meltzer, Paul S PS; Lau, Ching C CC; Perlman, Elizabeth J EJ; Maris, John M JM; Meshinchi, Soheil S; Hunger, Stephen P SP; Gerhard, Daniela S DS; Zhang, Jinghui J
Actionable perturbations of damage responses by TCL1/ATM and epigenetic lesions form the basis of T-PLL.
Nature Communications
Schrader, A A; Crispatzu, G G; Oberbeck, S S; Mayer, P P; Pützer, S S; von Jan, J J; Vasyutina, E E; Warner, K K; Weit, N N; Pflug, N N; Braun, T T; Andersson, E I EI; Yadav, B B; Riabinska, A A; Maurer, B B; Ventura Ferreira, M S MS; Beier, F F; Altmüller, J J; Lanasa, M M; Herling, C D CD; Haferlach, T T; Stilgenbauer, S S; Hopfinger, G G; Peifer, M M; Brümmendorf, T H TH; Nürnberg, P P; Elenitoba-Johnson, K S J KSJ; Zha, S S; Hallek, M M; Moriggl, R R; Reinhardt, H C HC; Stern, M-H MH; Mustjoki, S S; Newrzela, S S; Frommolt, P P; Herling, M M
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: ATM: 7327C>T; R2443*; rs121434220
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
Prevalence of Pathogenic Mutations in Cancer Predisposition Genes among Pancreatic Cancer Patients.
Cancer Epidemiology, Biomarkers & Prevention : A Publication Of The American Association For Cancer Research, Cosponsored By The American Society Of Preventive Oncology
Hu, Chunling C; Hart, Steven N SN; Bamlet, William R WR; Moore, Raymond M RM; Nandakumar, Kannabiran K; Eckloff, Bruce W BW; Lee, Yean K YK; Petersen, Gloria M GM; McWilliams, Robert R RR; Couch, Fergus J FJ
Publication Date: 2016-01
Variant appearance in text: ATM: 7327C>T; Arg2443X
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
Angiomatous meningiomas have a distinct genetic profile with multiple chromosomal polysomies including polysomy of chromosome 5.
Oncotarget
Abedalthagafi, Malak S MS; Merrill, Parker H PH; Bi, Wenya Linda WL; Jones, Robert T RT; Listewnik, Marc L ML; Ramkissoon, Shakti H SH; Thorner, Aaron R AR; Dunn, Ian F IF; Beroukhim, Rameen R; Alexander, Brian M BM; Brastianos, Priscilla K PK; Francis, Joshua M JM; Folkerth, Rebecca D RD; Ligon, Keith L KL; Van Hummelen, Paul P; Ligon, Azra H AH; Santagata, Sandro S
Publication Date: 2014-11-15
Variant appearance in text: ATM: 7327C>T; R2443*; rs121434220
Frequent germline deleterious mutations in DNA repair genes in familial prostate cancer cases are associated with advanced disease.
British Journal Of Cancer
Leongamornlert, D D; Saunders, E E; Dadaev, T T; Tymrakiewicz, M M; Goh, C C; Jugurnauth-Little, S S; Kozarewa, I I; Fenwick, K K; Assiotis, I I; Barrowdale, D D; Govindasami, K K; Guy, M M; Sawyer, E E; Wilkinson, R R; , ; Antoniou, A C AC; Eeles, R R; Kote-Jarai, Z Z
Publication Date: 2014-03-18
Variant appearance in text: ATM: 7327C>T; Arg2443*
Oligonucleotide microarrays demonstrate the highest frequency of ATM mutations in the mantle cell subtype of lymphoma.
Proceedings Of The National Academy Of Sciences Of The United States Of America
Fang, Nicole Y NY; Greiner, Timothy C TC; Weisenburger, Dennis D DD; Chan, Wing C WC; Vose, Julie M JM; Smith, Lynette M LM; Armitage, James O JO; Mayer, R Aeryn RA; Pike, Brian L BL; Collins, Francis S FS; Hacia, Joseph G JG