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: 2554C>T; Q852*; rs758081262
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: ATM: 2554C>T; Gln852Ter
Precise, Genotype-First Breast Cancer Prevention: Experience With Transferring Monogenic Findings From a Population Biobank to the Clinical Setting.
Frontiers In Genetics
Jürgens, Hannes H; Roht, Laura L; Leitsalu, Liis L; Nõukas, Margit M; Palover, Marili M; Nikopensius, Tiit T; Reigo, Anu A; Kals, Mart M; Kallak, Kersti K; Kütner, Riina R; Budrikas, Kai K; Kuusk, Saskia S; Valvere, Vahur V; Laidre, Piret P; Toome, Kadri K; Rekker, Kadri K; Tooming, Mikk M; Ülle Murumets, ; Kahre, Tiina T; Kruuv-Käo, Krista K; Õunap, Katrin K; Padrik, Peeter P; Metspalu, Andres A; Esko, Tõnu T; Fischer, Krista K; Tõnisson, Neeme N
Publication Date: 2022
Variant appearance in text: ATM: 2554C>T; Gln852*; rs758081262
Rituximab and Abatacept Are Effective in Differential Treatment of Interstitial Lymphocytic Lung Disease in Children With Primary Immunodeficiencies.
Frontiers In Immunology
Rodina, Yulia Y; Deripapa, E E; Shvets, O O; Mukhina, A A; Roppelt, A A; Yuhacheva, D D; Laberko, A A; Burlakov, V V; Abramov, D D; Tereshchenko, G G; Novichkova, G G; Shcherbina, Anna A
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
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
Platinum-Based Chemotherapy in Metastatic Prostate Cancer With DNA Repair Gene Alterations.
Jco Precision Oncology
Mota, Jose Mauricio JM; Barnett, Ethan E; Nauseef, Jones T JT; Nguyen, Bastien B; Stopsack, Konrad H KH; Wibmer, Andreas A; Flynn, Jessica R JR; Heller, Glenn G; Danila, Daniel C DC; Rathkopf, Dana D; Slovin, Susan S; Kantoff, Philip W PW; Scher, Howard I HI; Morris, Michael J MJ; Schultz, Nikolaus N; Solit, David B DB; Abida, Wassim W
Inherited DNA Repair Gene Mutations in Men with Lethal Prostate Cancer.
Genes
Rantapero, Tommi T; Wahlfors, Tiina T; Kähler, Anna A; Hultman, Christina C; Lindberg, Johan J; Tammela, Teuvo Lj TL; Nykter, Matti M; Schleutker, Johanna J; Wiklund, Fredrik F
Publication Date: 2020-03-14
Variant appearance in text: ATM: Q852X; rs758081262
Prevalence of Germline Mutations Associated With Cancer Risk in Patients With Intraductal Papillary Mucinous Neoplasms.
Gastroenterology
Skaro, Michael M; Nanda, Neha N; Gauthier, Christian C; Felsenstein, Matthäus M; Jiang, Zhengdong Z; Qiu, Miaozhen M; Shindo, Koji K; Yu, Jun J; Hutchings, Danielle D; Javed, Ammar A AA; Beckman, Ross R; He, Jin J; Wolfgang, Christopher L CL; Thompson, Elizabeth E; Hruban, Ralph H RH; Klein, Alison P AP; Goggins, Michael M; Wood, Laura D LD; Roberts, Nicholas J NJ
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
Somatic mutations in salivary duct carcinoma and potential therapeutic targets.
Oncotarget
Khoo, Timothy K TK; Yu, Bing B; Smith, Joel A JA; Clarke, Angus J AJ; Luk, Peter P PP; Selinger, Christina I CI; Mahon, Kate L KL; Kraitsek, Spiridoula S; Palme, Carsten C; Boyer, Michael J MJ; Dinger, Marcel E ME; Cowley, Mark J MJ; O'Toole, Sandra A SA; Clark, Jonathan R JR; Gupta, Ruta R
Spatio-temporal mutation profiles of case-matched colorectal carcinomas and their metastases reveal unique de novo mutations in metachronous lung metastases by targeted next generation sequencing.
Molecular Cancer
Kovaleva, Valentina V; Geissler, Anna-Lena AL; Lutz, Lisa L; Fritsch, Ralph R; Makowiec, Frank F; Wiesemann, Sebastian S; Hopt, Ulrich T UT; Passlick, Bernward B; Werner, Martin M; Lassmann, Silke S
Publication Date: 2016-10-18
Variant appearance in text: ATM: 2554C>T; Gln852Ter
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
Genetic lesions associated with chronic lymphocytic leukemia transformation to Richter syndrome.
The Journal Of Experimental Medicine
Fabbri, Giulia G; Khiabanian, Hossein H; Holmes, Antony B AB; Wang, Jiguang J; Messina, Monica M; Mullighan, Charles G CG; Pasqualucci, Laura L; Rabadan, Raul R; Dalla-Favera, Riccardo R