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: 670A>G; Lys224Glu; rs145053092
Occurrence of variants of unknown clinical significance in genetic testing for hereditary breast and ovarian cancer syndrome and Lynch syndrome: a literature review and analytical observational retrospective cohort study.
Bmc Medical Genomics
Adam, Felicia F; Fluri, Muriel M; Scherz, Amina A; Rabaglio, Manuela M
Breast cancer risks associated with missense variants in breast cancer susceptibility genes.
Genome Medicine
Dorling, Leila L; Carvalho, Sara S; Allen, Jamie J; Parsons, Michael T MT; Fortuno, Cristina C; González-Neira, Anna A; Heijl, Stephan M SM; Adank, Muriel A MA; Ahearn, Thomas U TU; Andrulis, Irene L IL; Auvinen, Päivi P; Becher, Heiko H; Beckmann, Matthias W MW; Behrens, Sabine S; Bermisheva, Marina M; Bogdanova, Natalia V NV; Bojesen, Stig E SE; Bolla, Manjeet K MK; Bremer, Michael M; Briceno, Ignacio I; Camp, Nicola J NJ; Campbell, Archie A; Castelao, Jose E JE; Chang-Claude, Jenny J; Chanock, Stephen J SJ; Chenevix-Trench, Georgia G; , ; Collée, J Margriet JM; Czene, Kamila K; Dennis, Joe J; Dörk, Thilo T; Eriksson, Mikael M; Evans, D Gareth DG; Fasching, Peter A PA; Figueroa, Jonine J; Flyger, Henrik H; Gabrielson, Marike M; Gago-Dominguez, Manuela M; García-Closas, Montserrat M; Giles, Graham G GG; Glendon, Gord G; Guénel, Pascal P; Gündert, Melanie M; Hadjisavvas, Andreas A; Hahnen, Eric E; Hall, Per P; Hamann, Ute U; Harkness, Elaine F EF; Hartman, Mikael M; Hogervorst, Frans B L FBL; Hollestelle, Antoinette A; Hoppe, Reiner R; Howell, Anthony A; , ; , ; Jakubowska, Anna A; Jung, Audrey A; Khusnutdinova, Elza E; Kim, Sung-Won SW; Ko, Yon-Dschun YD; Kristensen, Vessela N VN; Lakeman, Inge M M IMM; Li, Jingmei J; Lindblom, Annika A; Loizidou, Maria A MA; Lophatananon, Artitaya A; Lubiński, Jan J; Luccarini, Craig C; Madsen, Michael J MJ; Mannermaa, Arto A; Manoochehri, Mehdi M; Margolin, Sara S; Mavroudis, Dimitrios D; Milne, Roger L RL; Mohd Taib, Nur Aishah NA; Muir, Kenneth K; Nevanlinna, Heli H; Newman, William G WG; Oosterwijk, Jan C JC; Park, Sue K SK; Peterlongo, Paolo P; Radice, Paolo P; Saloustros, Emmanouil E; Sawyer, Elinor J EJ; Schmutzler, Rita K RK; Shah, Mitul M; Sim, Xueling X; Southey, Melissa C MC; Surowy, Harald H; Suvanto, Maija M; Tomlinson, Ian I; Torres, Diana D; Truong, Thérèse T; van Asperen, Christi J CJ; Waltes, Regina R; Wang, Qin Q; Yang, Xiaohong R XR; Pharoah, Paul D P PDP; Schmidt, Marjanka K MK; Benitez, Javier J; Vroling, Bas B; Dunning, Alison M AM; Teo, Soo Hwang SH; Kvist, Anders A; de la Hoya, Miguel M; Devilee, Peter P; Spurdle, Amanda B AB; Vreeswijk, Maaike P G MPG; Easton, Douglas F DF
Publication Date: 2022-05-18
Variant appearance in text: ATM: 670A>G; Lys224Glu
Germline ATM variants predispose to melanoma: a joint analysis across the GenoMEL and MelaNostrum consortia.
Genetics In Medicine : Official Journal Of The American College Of Medical Genetics
Dalmasso, B B; Pastorino, L L; Nathan, V V; Shah, N N NN; Palmer, J M JM; Howlie, M M; Johansson, P A PA; Freedman, N D ND; Carter, B D BD; Beane-Freeman, L L; Hicks, B B; Molven, A A; Helgadottir, H H; Sankar, A A; Tsao, H H; Stratigos, A J AJ; Helsing, P P; Van Doorn, R R; Gruis, N A NA; Visser, M M; Wadt, K A W KAW; Mann, G G; Holland, E A EA; Nagore, E E; Potrony, M M; Puig, S S; Menin, C C; Peris, K K; Fargnoli, M C MC; Calista, D D; Soufir, N N; Harland, M M; Bishop, T T; Kanetsky, P A PA; Elder, D E DE; Andreotti, V V; Vanni, I I; Bruno, W W; Höiom, V V; Tucker, M A MA; Yang, X R XR; Andresen, P A PA; Adams, D J DJ; Landi, M T MT; Hayward, N K NK; Goldstein, A M AM; Ghiorzo, P P; , ; ,
Prevalence of germline pathogenic variants in 22 cancer susceptibility genes in Swedish pediatric cancer patients.
Scientific Reports
von Stedingk, Kristoffer K; Stjernfelt, Karl-Johan KJ; Kvist, Anders A; Wahlström, Cecilia C; Kristoffersson, Ulf U; Stenmark-Askmalm, Marie M; Wiebe, Thomas T; Hjorth, Lars L; Koster, Jan J; Olsson, Håkan H; Øra, Ingrid I
Publication Date: 2021-03-05
Variant appearance in text: ATM: 670A>G; Lys224Glu; rs145053092
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
pyCancerSig: subclassifying human cancer with comprehensive single nucleotide, structural and microsatellite mutational signature deconstruction from whole genome sequencing.
Bmc Bioinformatics
Thutkawkorapin, Jessada J; Eisfeldt, Jesper J; Tham, Emma E; Nilsson, Daniel D
Returning Individual Genetic Research Results to Research Participants: Uptake and Outcomes Among Patients With Breast Cancer.
Jco Precision Oncology
Bradbury, Angela R AR; Patrick-Miller, Linda L; Egleston, Brian L BL; Maxwell, Kara N KN; DiGiovanni, Laura L; Brower, Jamie J; Fetzer, Dominique D; Bennett Gaieski, Jill J; Brandt, Amanda A; McKenna, Danielle D; Long, Jessica J; Powers, Jacquelyn J; Stopfer, Jill E JE; Nathanson, Katherine L KL; Domchek, Susan M SM
Single Molecule Molecular Inversion Probes for High Throughput Germline Screenings in Dystonia.
Frontiers In Neurology
Pogoda, Michaela M; Hilke, Franz-Joachim FJ; Lohmann, Ebba E; Sturm, Marc M; Lenz, Florian F; Matthes, Jakob J; Muyas, Francesc F; Ossowski, Stephan S; Hoischen, Alexander A; Faust, Ulrike U; Sepahi, Ilnaz I; Casadei, Nicolas N; Poths, Sven S; Riess, Olaf O; Schroeder, Christopher C; Grundmann, Kathrin K
Publication Date: 2019
Variant appearance in text: ATM: 670A>G; Lys224Glu
Familial breast cancer and DNA repair genes: Insights into known and novel susceptibility genes from the GENESIS study, and implications for multigene panel testing.
International Journal Of Cancer
Girard, Elodie E; Eon-Marchais, Séverine S; Olaso, Robert R; Renault, Anne-Laure AL; Damiola, Francesca F; Dondon, Marie-Gabrielle MG; Barjhoux, Laure L; Goidin, Didier D; Meyer, Vincent V; Le Gal, Dorothée D; Beauvallet, Juana J; Mebirouk, Noura N; Lonjou, Christine C; Coignard, Juliette J; Marcou, Morgane M; Cavaciuti, Eve E; Baulard, Céline C; Bihoreau, Marie-Thérèse MT; Cohen-Haguenauer, Odile O; Leroux, Dominique D; Penet, Clotilde C; Fert-Ferrer, Sandra S; Colas, Chrystelle C; Frebourg, Thierry T; Eisinger, François F; Adenis, Claude C; Fajac, Anne A; Gladieff, Laurence L; Tinat, Julie J; Floquet, Anne A; Chiesa, Jean J; Giraud, Sophie S; Mortemousque, Isabelle I; Soubrier, Florent F; Audebert-Bellanger, Séverine S; Limacher, Jean-Marc JM; Lasset, Christine C; Lejeune-Dumoulin, Sophie S; Dreyfus, Hélène H; Bignon, Yves-Jean YJ; Longy, Michel M; Pujol, Pascal P; Venat-Bouvet, Laurence L; Bonadona, Valérie V; Berthet, Pascaline P; Luporsi, Elisabeth E; Maugard, Christine M CM; Noguès, Catherine C; Delnatte, Capucine C; Fricker, Jean-Pierre JP; Gesta, Paul P; Faivre, Laurence L; Lortholary, Alain A; Buecher, Bruno B; Caron, Olivier O; Gauthier-Villars, Marion M; Coupier, Isabelle I; Servant, Nicolas N; Boland, Anne A; Mazoyer, Sylvie S; Deleuze, Jean-François JF; Stoppa-Lyonnet, Dominique D; Andrieu, Nadine N; Lesueur, Fabienne F
Publication Date: 2019-04-15
Variant appearance in text: ATM: 670A>G; K224E; rs145053092
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
Publication Date: 2018-02-15
Variant appearance in text: ATM: K224E; rs145053092
Rare, protein-truncating variants in ATM, CHEK2 and PALB2, but not XRCC2, are associated with increased breast cancer risks.
Journal Of Medical Genetics
Decker, Brennan B; Allen, Jamie J; Luccarini, Craig C; Pooley, Karen A KA; Shah, Mitul M; Bolla, Manjeet K MK; Wang, Qin Q; Ahmed, Shahana S; Baynes, Caroline C; Conroy, Don M DM; Brown, Judith J; Luben, Robert R; Ostrander, Elaine A EA; Pharoah, Paul Dp PD; Dunning, Alison M AM; Easton, Douglas F DF
Publication Date: 2017-11
Variant appearance in text: ATM: 670A>G; K224E; rs145053092
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
Patterns and functional implications of rare germline variants across 12 cancer types.
Nature Communications
Lu, Charles C; Xie, Mingchao M; Wendl, Michael C MC; Wang, Jiayin J; McLellan, Michael D MD; Leiserson, Mark D M MD; Huang, Kuan-Lin KL; Wyczalkowski, Matthew A MA; Jayasinghe, Reyka R; Banerjee, Tapahsama T; Ning, Jie J; Tripathi, Piyush P; Zhang, Qunyuan Q; Niu, Beifang B; Ye, Kai K; Schmidt, Heather K HK; Fulton, Robert S RS; McMichael, Joshua F JF; Batra, Prag P; Kandoth, Cyriac C; Bharadwaj, Maheetha M; Koboldt, Daniel C DC; Miller, Christopher A CA; Kanchi, Krishna L KL; Eldred, James M JM; Larson, David E DE; Welch, John S JS; You, Ming M; Ozenberger, Bradley A BA; Govindan, Ramaswamy R; Walter, Matthew J MJ; Ellis, Matthew J MJ; Mardis, Elaine R ER; Graubert, Timothy A TA; Dipersio, John F JF; Ley, Timothy J TJ; Wilson, Richard K RK; Goodfellow, Paul J PJ; Raphael, Benjamin J BJ; Chen, Feng F; Johnson, Kimberly J KJ; Parvin, Jeffrey D JD; Ding, Li L
Integrated genomic sequencing reveals mutational landscape of T-cell prolymphocytic leukemia.
Blood
Kiel, Mark J MJ; Velusamy, Thirunavukkarasu T; Rolland, Delphine D; Sahasrabuddhe, Anagh A AA; Chung, Fuzon F; Bailey, Nathanael G NG; Schrader, Alexandra A; Li, Bo B; Li, Jun Z JZ; Ozel, Ayse B AB; Betz, Bryan L BL; Miranda, Roberto N RN; Medeiros, L Jeffrey LJ; Zhao, Lili L; Herling, Marco M; Lim, Megan S MS; Elenitoba-Johnson, Kojo S J KS