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: 998C>T; S333F; rs28904919
Unique Growth Pattern Presentation of a Papillary Renal Cell Carcinoma.
Diagnostics (Basel, Switzerland)
Harich, Octavia Oana OO; Olteanu, Gheorghe-Emilian GE; Mihai, Ioana Maria IM; Benta, Marius M; Isabella, Gavriliuc Oana GO; Virgil, Paunescu P; Bojin, Florina Maria FM
Molecular landscape of TP53 mutations in breast cancer and their utility for predicting the response to HER-targeted therapy in HER2 amplification-positive and HER2 mutation-positive amplification-negative patients.
Molecular profiling of soft-tissue sarcomas with FoundationOne® Heme identifies potential targets for sarcoma therapy: a single-centre experience.
Therapeutic Advances In Medical Oncology
Scheipl, Susanne S; Brcic, Iva I; Moser, Tina T; Fischerauer, Stefan S; Riedl, Jakob J; Bergovec, Marko M; Smolle, Maria M; Posch, Florian F; Gerger, Armin A; Pichler, Martin M; Stoeger, Herbert H; Leithner, Andreas A; Heitzer, Ellen E; Liegl-Atzwanger, Bernadette B; Szkandera, Joanna J
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; , ; ,
Integrated genomic-metabolic classification of acute myeloid leukemia defines a subgroup with NPM1 and cohesin/DNA damage mutations.
Leukemia
Simonetti, Giorgia G; Mengucci, Carlo C; Padella, Antonella A; Fonzi, Eugenio E; Picone, Gianfranco G; Delpino, Claudio C; Nanni, Jacopo J; De Tommaso, Rossella R; Franchini, Eugenia E; Papayannidis, Cristina C; Marconi, Giovanni G; Pazzaglia, Martina M; Perricone, Margherita M; Scarpi, Emanuela E; Fontana, Maria Chiara MC; Bruno, Samantha S; Tebaldi, Michela M; Ferrari, Anna A; Bochicchio, Maria Teresa MT; Ghelli Luserna Di Rorà, Andrea A; Ghetti, Martina M; Napolitano, Roberta R; Astolfi, Annalisa A; Baldazzi, Carmen C; Guadagnuolo, Viviana V; Ottaviani, Emanuela E; Iacobucci, Ilaria I; Cavo, Michele M; Castellani, Gastone G; Haferlach, Torsten T; Remondini, Daniel D; Capozzi, Francesco F; Martinelli, Giovanni G
Publication Date: 2021-10
Variant appearance in text: ATM: S333F; rs28904919
Interpreting Sequence Variation in PDAC-Predisposing Genes Using a Multi-Tier Annotation Approach Performed at the Gene, Patient, and Cohort Level.
Frontiers In Oncology
Zimmermann, Michael T MT; Mathison, Angela J AJ; Stodola, Tim T; Evans, Douglas B DB; Abrudan, Jenica L JL; Demos, Wendy W; Tschannen, Michael M; Aldakkak, Mohammed M; Geurts, Jennifer J; Lomberk, Gwen G; Tsai, Susan S; Urrutia, Raul R
Publication Date: 2021
Variant appearance in text: ATM: 998C>T; Ser333Phe
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: 998C>T; Ser333Phe; rs28904919
Control of replication stress and mitosis in colorectal cancer stem cells through the interplay of PARP1, MRE11 and RAD51.
Cell Death And Differentiation
Manic, Gwenola G; Musella, Martina M; Corradi, Francesca F; Sistigu, Antonella A; Vitale, Sara S; Soliman Abdel Rehim, Sara S; Mattiello, Luca L; Malacaria, Eva E; Galassi, Claudia C; Signore, Michele M; Pallocca, Matteo M; Scalera, Stefano S; Goeman, Frauke F; De Nicola, Francesca F; Guarracino, Andrea A; Pennisi, Rosa R; Antonangeli, Fabrizio F; Sperati, Francesca F; Baiocchi, Marta M; Biffoni, Mauro M; Fanciulli, Maurizio M; Maugeri-Saccà, Marcello M; Franchitto, Annapaola A; Pichierri, Pietro P; De Maria, Ruggero R; Vitale, Ilio I
Publication Date: 2021-07
Variant appearance in text: ATM: 998C>T; S333F; rs28904919
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
Somatic Mutation Profiling in Premalignant Lesions of Vulvar Squamous Cell Carcinoma.
International Journal Of Molecular Sciences
Zięba, Sebastian S; Pouwer, Anne-Floor W AW; Kowalik, Artur A; Zalewski, Kamil K; Rusetska, Natalia N; Bakuła-Zalewska, Elwira E; Kopczyński, Janusz J; Pijnenborg, Johanna M A JMA; de Hullu, Joanne A JA; Kowalewska, Magdalena M
Sprissler, Ryan R; Perkins, Bryce B; Johnstone, Laurel L; Babiker, Hani M HM; Chalasani, Pavani P; Lau, Branden B; Hammer, Michael M; Mahadevan, Daruka D
A comprehensive custom panel evaluation for routine hereditary cancer testing: improving the yield of germline mutation detection.
Journal Of Translational Medicine
Velázquez, Carolina C; Lastra, Enrique E; Avila Cobos, Francisco F; Abella, Luis L; de la Cruz, Virginia V; Hernando, Blanca Ascensión BA; Hernández, Lara L; Martínez, Noemí N; Infante, Mar M; Durán, Mercedes M
Publication Date: 2020-06-10
Variant appearance in text: ATM: 998C>T; Ser333Phe
A comprehensive analysis of candidate genes in familial pancreatic cancer families reveals a high frequency of potentially pathogenic germline variants.
Ebiomedicine
Earl, Julie J; Galindo-Pumariño, Cristina C; Encinas, Jessica J; Barreto, Emma E; Castillo, Maria E ME; Pachón, Vanessa V; Ferreiro, Reyes R; Rodríguez-Garrote, Mercedes M; González-Martínez, Silvia S; Ramon Y Cajal, Teresa T; Diaz, Luis Robles LR; Chirivella-Gonzalez, Isabel I; Rodriguez, Montse M; de Castro, Eva Martínez EM; García-Seisdedos, David D; Muñoz, Gloria G; Rosa, Juan Manuel Rosa JMR; Marquez, Mirari M; Malats, Nuría N; Carrato, Alfredo A
Publication Date: 2020-03
Variant appearance in text: ATM: 998C>T; Ser333Phe
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: ATM: 998C>T; S333F; rs28904919
REVEL and BayesDel outperform other in silico meta-predictors for clinical variant classification.
Scientific Reports
Tian, Yuan Y; Pesaran, Tina T; Chamberlin, Adam A; Fenwick, R Bryn RB; Li, Shuwei S; Gau, Chia-Ling CL; Chao, Elizabeth C EC; Lu, Hsiao-Mei HM; Black, Mary Helen MH; Qian, Dajun D
Organoids as a new model for improving regenerative medicine and cancer personalized therapy in renal diseases.
Cell Death & Disease
Grassi, Ludovica L; Alfonsi, Romina R; Francescangeli, Federica F; Signore, Michele M; De Angelis, Maria Laura ML; Addario, Antonio A; Costantini, Manuela M; Flex, Elisabetta E; Ciolfi, Andrea A; Pizzi, Simone S; Bruselles, Alessandro A; Pallocca, Matteo M; Simone, Giuseppe G; Haoui, Mustapha M; Falchi, Mario M; Milella, Michele M; Sentinelli, Steno S; Di Matteo, Paola P; Stellacci, Emilia E; Gallucci, Michele M; Muto, Giovanni G; Tartaglia, Marco M; De Maria, Ruggero R; Bonci, Désirée D
Randomized, Double-Blind, Phase II Study of Temozolomide in Combination With Either Veliparib or Placebo in Patients With Relapsed-Sensitive or Refractory Small-Cell Lung Cancer.
Journal Of Clinical Oncology : Official Journal Of The American Society Of Clinical Oncology
Pietanza, M Catherine MC; Waqar, Saiama N SN; Krug, Lee M LM; Dowlati, Afshin A; Hann, Christine L CL; Chiappori, Alberto A; Owonikoko, Taofeek K TK; Woo, Kaitlin M KM; Cardnell, Robert J RJ; Fujimoto, Junya J; Long, Lihong L; Diao, Lixia L; Wang, Jing J; Bensman, Yevgeniva Y; Hurtado, Brenda B; de Groot, Patricia P; Sulman, Erik P EP; Wistuba, Ignacio I II; Chen, Alice A; Fleisher, Martin M; Heymach, John V JV; Kris, Mark G MG; Rudin, Charles M CM; Byers, Lauren Averett LA
A novel molecular diagnostics platform for somatic and germline precision oncology.
Molecular Genetics & Genomic Medicine
Cabanillas, Rubén R; Diñeiro, Marta M; Castillo, David D; Pruneda, Patricia C PC; Penas, Cristina C; Cifuentes, Guadalupe A GA; de Vicente, Álvaro Á; Durán, Noelia S NS; Álvarez, Rebeca R; Ordóñez, Gonzalo R GR; Cadiñanos, Juan J
Reanalysis of BRCA1/2 negative high risk ovarian cancer patients reveals novel germline risk loci and insights into missing heritability.
Plos One
Stafford, Jaime L JL; Dyson, Gregory G; Levin, Nancy K NK; Chaudhry, Sophia S; Rosati, Rita R; Kalpage, Hasini H; Wernette, Courtney C; Petrucelli, Nancie N; Simon, Michael S MS; Tainsky, Michael A MA
Publication Date: 2017
Variant appearance in text: ATM: 998C>T; S333F; rs28904919
Molecular Profiling of Thymoma and Thymic Carcinoma: Genetic Differences and Potential Novel Therapeutic Targets.
Pathology Oncology Research : Por
Enkner, Franz F; Pichlhöfer, Bettina B; Zaharie, Alexandru Teodor AT; Krunic, Milica M; Holper, Tina Maria TM; Janik, Stefan S; Moser, Bernhard B; Schlangen, Karin K; Neudert, Barbara B; Walter, Karin K; Migschitz, Brigitte B; Müllauer, Leonhard L
Molecular analysis of urothelial cancer cell lines for modeling tumor biology and drug response.
Oncogene
Nickerson, M L ML; Witte, N N; Im, K M KM; Turan, S S; Owens, C C; Misner, K K; Tsang, S X SX; Cai, Z Z; Wu, S S; Dean, M M; Costello, J C JC; Theodorescu, D D
Publication Date: 2017-01-05
Variant appearance in text: ATM: S333F; rs28904919
A unified analytic framework for prioritization of non-coding variants of uncertain significance in heritable breast and ovarian cancer.
Bmc Medical Genomics
Mucaki, Eliseos J EJ; Caminsky, Natasha G NG; Perri, Ami M AM; Lu, Ruipeng R; Laederach, Alain A; Halvorsen, Matthew M; Knoll, Joan H M JH; Rogan, Peter K PK
Publication Date: 2016-04-11
Variant appearance in text: ATM: 998C>T; Ser333Phe; rs28904919
Targeted Next Generation Sequencing as a Reliable Diagnostic Assay for the Detection of Somatic Mutations in Tumours Using Minimal DNA Amounts from Formalin Fixed Paraffin Embedded Material.
Plos One
de Leng, Wendy W J WW; Gadellaa-van Hooijdonk, Christa G CG; Barendregt-Smouter, Françoise A S FA; Koudijs, Marco J MJ; Nijman, Ies I; Hinrichs, John W J JW; Cuppen, Edwin E; van Lieshout, Stef S; Loberg, Robert D RD; de Jonge, Maja M; Voest, Emile E EE; de Weger, Roel A RA; Steeghs, Neeltje N; Langenberg, Marlies H G MH; Sleijfer, Stefan S; Willems, Stefan M SM; Lolkema, Martijn P MP
Sporadic hemangioblastomas are characterized by cryptic VHL inactivation.
Acta Neuropathologica Communications
Shankar, Ganesh M GM; Taylor-Weiner, Amaro A; Lelic, Nina N; Jones, Robert T RT; Kim, James C JC; Francis, Joshua M JM; Abedalthagafi, Malak M; Borges, Lawrence F LF; Coumans, Jean-Valery JV; Curry, William T WT; Nahed, Brian V BV; Shin, John H JH; Paek, Sun Ha SH; Park, Sung-Hye SH; Stewart, Chip C; Lawrence, Michael S MS; Cibulskis, Kristian K; Thorner, Aaron R AR; Van Hummelen, Paul P; Stemmer-Rachamimov, Anat O AO; Batchelor, Tracy T TT; Carter, Scott L SL; Hoang, Mai P MP; Santagata, Sandro S; Louis, David N DN; Barker, Fred G FG; Meyerson, Matthew M; Getz, Gad G; Brastianos, Priscilla K PK; Cahill, Daniel P DP
Publication Date: 2014-12-24
Variant appearance in text: ATM: 998C>T; S333F; rs28904919
Whole-genome sequencing of the world's oldest people.
Plos One
Gierman, Hinco J HJ; Fortney, Kristen K; Roach, Jared C JC; Coles, Natalie S NS; Li, Hong H; Glusman, Gustavo G; Markov, Glenn J GJ; Smith, Justin D JD; Hood, Leroy L; Coles, L Stephen LS; Kim, Stuart K SK
Publication Date: 2014
Variant appearance in text: ATM: S333F; rs28904919
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: ATM: S333F; rs28904919
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
Genome-wide testing of putative functional exonic variants in relationship with breast and prostate cancer risk in a multiethnic population.
Plos Genetics
Haiman, Christopher A CA; Han, Ying Y; Feng, Ye Y; Xia, Lucy L; Hsu, Chris C; Sheng, Xin X; Pooler, Loreall C LC; Patel, Yesha Y; Kolonel, Laurence N LN; Carter, Erin E; Park, Karen K; Le Marchand, Loic L; Van Den Berg, David D; Henderson, Brian E BE; Stram, Daniel O DO
Publication Date: 2013-03
Variant appearance in text: ATM: S333F; rs28904919