Analysis of matched primary and recurrent BRCA1/2 mutation-associated tumors identifies recurrence-specific drivers.
Nature Communications
Shah, Jennifer B JB; Pueschl, Dana D; Wubbenhorst, Bradley B; Fan, Mengyao M; Pluta, John J; D'Andrea, Kurt K; Hubert, Anna P AP; Shilan, Jake S JS; Zhou, Wenting W; Kraya, Adam A AA; Llop Guevara, Alba A; Ruan, Catherine C; Serra, Violeta V; Balmaña, Judith J; Feldman, Michael M; Morin, Pat J PJ; Nayak, Anupma A; Maxwell, Kara N KN; Domchek, Susan M SM; Nathanson, Katherine L KL
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: 4148C>T; Ser1383Leu; rs141087784
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
Spectrum and Prevalence of Pathogenic Variants in Ovarian Cancer Susceptibility Genes in a Group of 333 Patients.
Cancers
Koczkowska, Magdalena M; Krawczynska, Natalia N; Stukan, Maciej M; Kuzniacka, Alina A; Brozek, Izabela I; Sniadecki, Marcin M; Debniak, Jaroslaw J; Wydra, Dariusz D; Biernat, Wojciech W; Kozlowski, Piotr P; Limon, Janusz J; Wasag, Bartosz B; Ratajska, Magdalena M
Publication Date: 2018-11-14
Variant appearance in text: ATM: 4148C>T; Ser1383Leu; rs141087784
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: 4148C>T; Ser1383Leu; rs141087784
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
Frequency of Germline Mutations in 25 Cancer Susceptibility Genes in a Sequential Series of Patients With Breast Cancer.
Journal Of Clinical Oncology : Official Journal Of The American Society Of Clinical Oncology
Tung, Nadine N; Lin, Nancy U NU; Kidd, John J; Allen, Brian A BA; Singh, Nanda N; Wenstrup, Richard J RJ; Hartman, Anne-Renee AR; Winer, Eric P EP; Garber, Judy E JE
Publication Date: 2016-05-01
Variant appearance in text: ATM: 4148C>T; Ser1383Leu
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