Common genetic variations in telomere length genes and lung cancer: a Mendelian randomisation study and its novel application in lung tumour transcriptome.
Elife
Cortez Cardoso Penha, Ricardo R; Smith-Byrne, Karl K; Atkins, Joshua R JR; Haycock, Philip C PC; Kar, Siddhartha S; Codd, Veryan V; Samani, Nilesh J NJ; Nelson, Christopher C; Milojevic, Maja M; Gabriel, Aurélie A G AAG; Amos, Christopher C; Brennan, Paul P; Hung, Rayjean J RJ; Kachuri, Linda L; Mckay, James D JD
Fanconi anemia and dyskeratosis congenita/telomere biology disorders: Two inherited bone marrow failure syndromes with genomic instability.
Frontiers In Oncology
Fiesco-Roa, Moisés Ó MÓ; García-de Teresa, Benilde B; Leal-Anaya, Paula P; van 't Hek, Renée R; Wegman-Ostrosky, Talia T; Frías, Sara S; Rodríguez, Alfredo A
Genetic variation in TERT modifies the risk of hepatocellular carcinoma in alcohol-related cirrhosis: results from a genome-wide case-control study.
Gut
Buch, Stephan S; Innes, Hamish H; Lutz, Philipp Ludwig PL; Nischalke, Hans Dieter HD; Marquardt, Jens U JU; Fischer, Janett J; Weiss, Karl Heinz KH; Rosendahl, Jonas J; Marot, Astrid A; Krawczyk, Marcin M; Casper, Markus M; Lammert, Frank F; Eyer, Florian F; Vogel, Arndt A; Marhenke, Silke S; von Felden, Johann J; Sharma, Rohini R; Atkinson, Stephen Rahul SR; McQuillin, Andrew A; Nattermann, Jacob J; Schafmayer, Clemens C; Franke, Andre A; Strassburg, Christian C; Rietschel, Marcella M; Altmann, Heidi H; Sulk, Stefan S; Thangapandi, Veera Raghavan VR; Brosch, Mario M; Lackner, Carolin C; Stauber, Rudolf E RE; Canbay, Ali A; Link, Alexander A; Reiberger, Thomas T; Mandorfer, Mattias M; Semmler, Georg G; Scheiner, Bernhard B; Datz, Christian C; Romeo, Stefano S; Ginanni Corradini, Stefano S; Irving, William Lucien WL; Morling, Joanne R JR; Guha, Indra Neil IN; Barnes, Eleanor E; Ansari, M Azim MA; Quistrebert, Jocelyn J; Valenti, Luca L; Müller, Sascha A SA; Morgan, Marsha Yvonne MY; Dufour, Jean-François JF; Trebicka, Jonel J; Berg, Thomas T; Deltenre, Pierre P; Mueller, Sebastian S; Hampe, Jochen J; Stickel, Felix F
Germline mutations among Polish patients with acute myeloid leukemia.
Hereditary Cancer In Clinical Practice
Bąk, Aneta A; Skonieczka, Katarzyna K; Jaśkowiec, Anna A; Junkiert-Czarnecka, Anna A; Heise, Marta M; Pilarska-Deltow, Maria M; Potoczek, Stanisław S; Czyżewska, Maria M; Haus, Olga O
Publication Date: 2021-10-12
Variant appearance in text: TERT: 835G>A; Ala279Thr; rs61748181
Polygenic basis and biomedical consequences of telomere length variation.
Nature Genetics
Codd, Veryan V; Wang, Qingning Q; Allara, Elias E; Musicha, Crispin C; Kaptoge, Stephen S; Stoma, Svetlana S; Jiang, Tao T; Hamby, Stephen E SE; Braund, Peter S PS; Bountziouka, Vasiliki V; Budgeon, Charley A CA; Denniff, Matthew M; Swinfield, Chloe C; Papakonstantinou, Manolo M; Sheth, Shilpi S; Nanus, Dominika E DE; Warner, Sophie C SC; Wang, Minxian M; Khera, Amit V AV; Eales, James J; Ouwehand, Willem H WH; Thompson, John R JR; Di Angelantonio, Emanuele E; Wood, Angela M AM; Butterworth, Adam S AS; Danesh, John N JN; Nelson, Christopher P CP; Samani, Nilesh J NJ
Polygenic basis and biomedical consequences of telomere length variation.
Nature Genetics
Codd, Veryan V; Wang, Qingning Q; Allara, Elias E; Musicha, Crispin C; Kaptoge, Stephen S; Stoma, Svetlana S; Jiang, Tao T; Hamby, Stephen E SE; Braund, Peter S PS; Bountziouka, Vasiliki V; Budgeon, Charley A CA; Denniff, Matthew M; Swinfield, Chloe C; Papakonstantinou, Manolo M; Sheth, Shilpi S; Nanus, Dominika E DE; Warner, Sophie C SC; Wang, Minxian M; Khera, Amit V AV; Eales, James J; Ouwehand, Willem H WH; Thompson, John R JR; Di Angelantonio, Emanuele E; Wood, Angela M AM; Butterworth, Adam S AS; Danesh, John N JN; Nelson, Christopher P CP; Samani, Nilesh J NJ
NGS Analysis Confirms Common TP53 and RB1 Mutations, and Suggests MYC Amplification in Ocular Adnexal Sebaceous Carcinomas.
International Journal Of Molecular Sciences
Peterson, Cornelia C; Moore, Robert R; Hicks, Jessica L JL; Morsberger, Laura A LA; De Marzo, Angelo M AM; Zou, Ying Y; Eberhart, Charles G CG; Campbell, Ashley A AA
Large-scale cross-cancer fine-mapping of the 5p15.33 region reveals multiple independent signals.
Hgg Advances
Chen, Hongjie H; Majumdar, Arunabha A; Wang, Lu L; Kar, Siddhartha S; Brown, Kevin M KM; Feng, Helian H; Turman, Constance C; Dennis, Joe J; Easton, Douglas D; Michailidou, Kyriaki K; Simard, Jacques J; , ; Bishop, Timothy T; Cheng, Iona C IC; Huyghe, Jeroen R JR; Schmit, Stephanie L SL; , ; , ; , ; O'Mara, Tracy A TA; Spurdle, Amanda B AB; , ; Gharahkhani, Puya P; Schumacher, Johannes J; Jankowski, Janusz J; Gocke, Ines I; , ; Bondy, Melissa L ML; Houlston, Richard S RS; Jenkins, Robert B RB; Melin, Beatrice B; , ; Lesseur, Corina C; Ness, Andy R AR; Diergaarde, Brenda B; Olshan, Andrew F AF; , ; Amos, Christopher I CI; Christiani, David C DC; Landi, Maria T MT; McKay, James D JD; , ; Brossard, Myriam M; Iles, Mark M MM; Law, Matthew H MH; MacGregor, Stuart S; , ; Beesley, Jonathan J; Jones, Michelle R MR; Tyrer, Jonathan J; Winham, Stacey J SJ; , ; Klein, Alison P AP; Petersen, Gloria G; Li, Donghui D; Wolpin, Brian M BM; , ; , ; Eeles, Rosalind A RA; Haiman, Christopher A CA; Kote-Jarai, Zsofia Z; Schumacher, Fredrick R FR; , ; Brennan, Paul P; Chanock, Stephen J SJ; Gaborieau, Valerie V; Purdue, Mark P MP; , ; Pharoah, Paul P; Hung, Rayjean J RJ; Amundadottir, Laufey T LT; Kraft, Peter P; Pasaniuc, Bogdan B; Lindström, Sara S
Large-scale cross-cancer fine-mapping of the 5p15.33 region reveals multiple independent signals.
Hgg Advances
Chen, Hongjie H; Majumdar, Arunabha A; Wang, Lu L; Kar, Siddhartha S; Brown, Kevin M KM; Feng, Helian H; Turman, Constance C; Dennis, Joe J; Easton, Douglas D; Michailidou, Kyriaki K; Simard, Jacques J; , ; Bishop, Timothy T; Cheng, Iona C IC; Huyghe, Jeroen R JR; Schmit, Stephanie L SL; , ; , ; , ; O'Mara, Tracy A TA; Spurdle, Amanda B AB; , ; Gharahkhani, Puya P; Schumacher, Johannes J; Jankowski, Janusz J; Gockel, Ines I; , ; Bondy, Melissa L ML; Houlston, Richard S RS; Jenkins, Robert B RB; Melin, Beatrice B; , ; Lesseur, Corina C; Ness, Andy R AR; Diergaarde, Brenda B; Olshan, Andrew F AF; , ; Amos, Christopher I CI; Christiani, David C DC; Landi, Maria T MT; McKay, James D JD; , ; Brossard, Myriam M; Iles, Mark M MM; Law, Matthew H MH; MacGregor, Stuart S; , ; Beesley, Jonathan J; Jones, Michelle R MR; Tyrer, Jonathan J; Winham, Stacey J SJ; , ; Klein, Alison P AP; Petersen, Gloria G; Li, Donghui D; Wolpin, Brian M BM; , ; , ; Eeles, Rosalind A RA; Haiman, Christopher A CA; Kote-Jarai, Zsofia Z; Schumacher, Fredrick R FR; , ; , ; , ; , ; , ; Brennan, Paul P; Chanock, Stephen J SJ; Gaborieau, Valerie V; Purdue, Mark P MP; , ; Pharoah, Paul P; Hung, Rayjean J RJ; Amundadottir, Laufey T LT; Kraft, Peter P; Pasaniuc, Bogdan B; Lindström, Sara S
Mild catalytic defects of tert rs61748181 polymorphism affect the clinical presentation of chronic obstructive pulmonary disease.
Scientific Reports
Xu, Jialin J; de Oliveira, Diego Madureira DM; Trudeau, Matthew A MA; Yang, Yang Y; Chin, Jessica J Y JJY; Sin, Don D DD; Sandford, Andrew J AJ; Wong, Judy M Y JMY
Publication Date: 2021-02-22
Variant appearance in text: TERT: A279T; rs61748181
The molecular landscape of ETMR at diagnosis and relapse.
Nature
Lambo, Sander S; Gröbner, Susanne N SN; Rausch, Tobias T; Waszak, Sebastian M SM; Schmidt, Christin C; Gorthi, Aparna A; Romero, July Carolina JC; Mauermann, Monika M; Brabetz, Sebastian S; Krausert, Sonja S; Buchhalter, Ivo I; Koster, Jan J; Zwijnenburg, Danny A DA; Sill, Martin M; Hübner, Jens-Martin JM; Mack, Norman N; Schwalm, Benjamin B; Ryzhova, Marina M; Hovestadt, Volker V; Papillon-Cavanagh, Simon S; Chan, Jennifer A JA; Landgraf, Pablo P; Ho, Ben B; Milde, Till T; Witt, Olaf O; Ecker, Jonas J; Sahm, Felix F; Sumerauer, David D; Ellison, David W DW; Orr, Brent A BA; Darabi, Anna A; Haberler, Christine C; Figarella-Branger, Dominique D; Wesseling, Pieter P; Schittenhelm, Jens J; Remke, Marc M; Taylor, Michael D MD; Gil-da-Costa, Maria J MJ; Łastowska, Maria M; Grajkowska, Wiesława W; Hasselblatt, Martin M; Hauser, Peter P; Pietsch, Torsten T; Uro-Coste, Emmanuelle E; Bourdeaut, Franck F; Masliah-Planchon, Julien J; Rigau, Valérie V; Alexandrescu, Sanda S; Wolf, Stephan S; Li, Xiao-Nan XN; Schüller, Ulrich U; Snuderl, Matija M; Karajannis, Matthias A MA; Giangaspero, Felice F; Jabado, Nada N; von Deimling, Andreas A; Jones, David T W DTW; Korbel, Jan O JO; von Hoff, Katja K; Lichter, Peter P; Huang, Annie A; Bishop, Alexander J R AJR; Pfister, Stefan M SM; Korshunov, Andrey A; Kool, Marcel M
Publication Date: 2019-12
Variant appearance in text: TERT: A279T; rs61748181
Intraventricular meningiomas frequently harbor NF2 mutations but lack common genetic alterations in TRAF7, AKT1, SMO, KLF4, PIK3CA, and TERT.
Acta Neuropathologica Communications
Jungwirth, Gerhard G; Warta, Rolf R; Beynon, Christopher C; Sahm, Felix F; von Deimling, Andreas A; Unterberg, Andreas A; Herold-Mende, Christel C; Jungk, Christine C
Publication Date: 2019-08-30
Variant appearance in text: TERT: A279T; rs61748181
A reference collection of patient-derived cell line and xenograft models of proneural, classical and mesenchymal glioblastoma.
Scientific Reports
Stringer, Brett W BW; Day, Bryan W BW; D'Souza, Rochelle C J RCJ; Jamieson, Paul R PR; Ensbey, Kathleen S KS; Bruce, Zara C ZC; Lim, Yi Chieh YC; Goasdoué, Kate K; Offenhäuser, Carolin C; Akgül, Seçkin S; Allan, Suzanne S; Robertson, Thomas T; Lucas, Peter P; Tollesson, Gert G; Campbell, Scott S; Winter, Craig C; Do, Hongdo H; Dobrovic, Alexander A; Inglis, Po-Ling PL; Jeffree, Rosalind L RL; Johns, Terrance G TG; Boyd, Andrew W AW
Publication Date: 2019-03-20
Variant appearance in text: TERT: A279T; rs61748181
Identifying Extrinsic versus Intrinsic Drivers of Variation in Cell Behavior in Human iPSC Lines from Healthy Donors.
Cell Reports
Vigilante, Alessandra A; Laddach, Anna A; Moens, Nathalie N; Meleckyte, Ruta R; Leha, Andreas A; Ghahramani, Arsham A; Culley, Oliver J OJ; Kathuria, Annie A; Hurling, Chloe C; Vickers, Alice A; Wiseman, Erika E; Tewary, Mukul M; Zandstra, Peter W PW; , ; Durbin, Richard R; Fraternali, Franca F; Stegle, Oliver O; Birney, Ewan E; Luscombe, Nicholas M NM; Danovi, Davide D; Watt, Fiona M FM
Specific V-ATPase expression sub-classifies IDHwt lower-grade gliomas and impacts glioma growth in vivo.
Ebiomedicine
Terrasi, Andrea A; Bertolini, Irene I; Martelli, Cristina C; Gaudioso, Gabriella G; Di Cristofori, Andrea A; Storaci, Alessandra Maria AM; Formica, Miriam M; Bosari, Silvano S; Caroli, Manuela M; Ottobrini, Luisa L; Vaccari, Thomas T; Vaira, Valentina V
Publication Date: 2019-03
Variant appearance in text: TERT: A279T; rs61748181
Whole exome sequencing analysis in severe chronic obstructive pulmonary disease.
Human Molecular Genetics
Qiao, Dandi D; Ameli, Asher A; Prokopenko, Dmitry D; Chen, Han H; Kho, Alvin T AT; Parker, Margaret M MM; Morrow, Jarrett J; Hobbs, Brian D BD; Liu, Yanhong Y; Beaty, Terri H TH; Crapo, James D JD; Barnes, Kathleen C KC; Nickerson, Deborah A DA; Bamshad, Michael M; Hersh, Craig P CP; Lomas, David A DA; Agusti, Alvar A; Make, Barry J BJ; Calverley, Peter M A PMA; Donner, Claudio F CF; Wouters, Emiel F EF; Vestbo, Jørgen J; Paré, Peter D PD; Levy, Robert D RD; Rennard, Stephen I SI; Tal-Singer, Ruth R; Spitz, Margaret R MR; Sharma, Amitabh A; Ruczinski, Ingo I; Lange, Christoph C; Silverman, Edwin K EK; Cho, Michael H MH
Fine-mapping of prostate cancer susceptibility loci in a large meta-analysis identifies candidate causal variants.
Nature Communications
Dadaev, Tokhir T; Saunders, Edward J EJ; Newcombe, Paul J PJ; Anokian, Ezequiel E; Leongamornlert, Daniel A DA; Brook, Mark N MN; Cieza-Borrella, Clara C; Mijuskovic, Martina M; Wakerell, Sarah S; Olama, Ali Amin Al AAA; Schumacher, Fredrick R FR; Berndt, Sonja I SI; Benlloch, Sara S; Ahmed, Mahbubl M; Goh, Chee C; Sheng, Xin X; Zhang, Zhuo Z; Muir, Kenneth K; Govindasami, Koveela K; Lophatananon, Artitaya A; Stevens, Victoria L VL; Gapstur, Susan M SM; Carter, Brian D BD; Tangen, Catherine M CM; Goodman, Phyllis P; Thompson, Ian M IM; Batra, Jyotsna J; Chambers, Suzanne S; Moya, Leire L; Clements, Judith J; Horvath, Lisa L; Tilley, Wayne W; Risbridger, Gail G; Gronberg, Henrik H; Aly, Markus M; Nordström, Tobias T; Pharoah, Paul P; Pashayan, Nora N; Schleutker, Johanna J; Tammela, Teuvo L J TLJ; Sipeky, Csilla C; Auvinen, Anssi A; Albanes, Demetrius D; Weinstein, Stephanie S; Wolk, Alicja A; Hakansson, Niclas N; West, Catharine C; Dunning, Alison M AM; Burnet, Neil N; Mucci, Lorelei L; Giovannucci, Edward E; Andriole, Gerald G; Cussenot, Olivier O; Cancel-Tassin, Géraldine G; Koutros, Stella S; Freeman, Laura E Beane LEB; Sorensen, Karina Dalsgaard KD; Orntoft, Torben Falck TF; Borre, Michael M; Maehle, Lovise L; Grindedal, Eli Marie EM; Neal, David E DE; Donovan, Jenny L JL; Hamdy, Freddie C FC; Martin, Richard M RM; Travis, Ruth C RC; Key, Tim J TJ; Hamilton, Robert J RJ; Fleshner, Neil E NE; Finelli, Antonio A; Ingles, Sue Ann SA; Stern, Mariana C MC; Rosenstein, Barry B; Kerns, Sarah S; Ostrer, Harry H; Lu, Yong-Jie YJ; Zhang, Hong-Wei HW; Feng, Ninghan N; Mao, Xueying X; Guo, Xin X; Wang, Guomin G; Sun, Zan Z; Giles, Graham G GG; Southey, Melissa C MC; MacInnis, Robert J RJ; FitzGerald, Liesel M LM; Kibel, Adam S AS; Drake, Bettina F BF; Vega, Ana A; Gómez-Caamaño, Antonio A; Fachal, Laura L; Szulkin, Robert R; Eklund, Martin M; Kogevinas, Manolis M; Llorca, Javier J; Castaño-Vinyals, Gemma G; Penney, Kathryn L KL; Stampfer, Meir M; Park, Jong Y JY; Sellers, Thomas A TA; Lin, Hui-Yi HY; Stanford, Janet L JL; Cybulski, Cezary C; Wokolorczyk, Dominika D; Lubinski, Jan J; Ostrander, Elaine A EA; Geybels, Milan S MS; Nordestgaard, Børge G BG; Nielsen, Sune F SF; Weisher, Maren M; Bisbjerg, Rasmus R; Røder, Martin Andreas MA; Iversen, Peter P; Brenner, Hermann H; Cuk, Katarina K; Holleczek, Bernd B; Maier, Christiane C; Luedeke, Manuel M; Schnoeller, Thomas T; Kim, Jeri J; Logothetis, Christopher J CJ; John, Esther M EM; Teixeira, Manuel R MR; Paulo, Paula P; Cardoso, Marta M; Neuhausen, Susan L SL; Steele, Linda L; Ding, Yuan Chun YC; De Ruyck, Kim K; De Meerleer, Gert G; Ost, Piet P; Razack, Azad A; Lim, Jasmine J; Teo, Soo-Hwang SH; Lin, Daniel W DW; Newcomb, Lisa F LF; Lessel, Davor D; Gamulin, Marija M; Kulis, Tomislav T; Kaneva, Radka R; Usmani, Nawaid N; Slavov, Chavdar C; Mitev, Vanio V; Parliament, Matthew M; Singhal, Sandeep S; Claessens, Frank F; Joniau, Steven S; Van den Broeck, Thomas T; Larkin, Samantha S; Townsend, Paul A PA; Aukim-Hastie, Claire C; Gago-Dominguez, Manuela M; Castelao, Jose Esteban JE; Martinez, Maria Elena ME; Roobol, Monique J MJ; Jenster, Guido G; van Schaik, Ron H N RHN; Menegaux, Florence F; Truong, Thérèse T; Koudou, Yves Akoli YA; Xu, Jianfeng J; Khaw, Kay-Tee KT; Cannon-Albright, Lisa L; Pandha, Hardev H; Michael, Agnieszka A; Kierzek, Andrzej A; Thibodeau, Stephen N SN; McDonnell, Shannon K SK; Schaid, Daniel J DJ; Lindstrom, Sara S; Turman, Constance C; Ma, Jing J; Hunter, David J DJ; Riboli, Elio E; Siddiq, Afshan A; Canzian, Federico F; Kolonel, Laurence N LN; Le Marchand, Loic L; Hoover, Robert N RN; Machiela, Mitchell J MJ; Kraft, Peter P; , ; Freedman, Matthew M; Wiklund, Fredrik F; Chanock, Stephen S; Henderson, Brian E BE; Easton, Douglas F DF; Haiman, Christopher A CA; Eeles, Rosalind A RA; Conti, David V DV; Kote-Jarai, Zsofia Z
Publication Date: 2018-06-11
Variant appearance in text: TERT: A279T; rs61748181
Novel variants in Nordic patients referred for genetic testing of telomere-related disorders.
European Journal Of Human Genetics : Ejhg
Norberg, Anna A; Rosén, Anna A; Raaschou-Jensen, Klas K; Kjeldsen, Lars L; Moilanen, Jukka S JS; Paulsson-Karlsson, Ylva Y; Baliakas, Panagiotis P; Lohi, Olli O; Ahmed, Aymen A; Kittang, Astrid O AO; Larsson, Pär P; Roos, Göran G; Degerman, Sofie S; Hultdin, Magnus M
Heterozygous RTEL1 variants in bone marrow failure and myeloid neoplasms.
Blood Advances
Marsh, Judith C W JCW; Gutierrez-Rodrigues, Fernanda F; Cooper, James J; Jiang, Jie J; Gandhi, Shreyans S; Kajigaya, Sachiko S; Feng, Xingmin X; Ibanez, Maria Del Pilar F MDPF; Donaires, Flávia S FS; Lopes da Silva, João P JP; Li, Zejuan Z; Das, Soma S; Ibanez, Maria M; Smith, Alexander E AE; Lea, Nicholas N; Best, Steven S; Ireland, Robin R; Kulasekararaj, Austin G AG; McLornan, Donal P DP; Pagliuca, Anthony A; Callebaut, Isabelle I; Young, Neal S NS; Calado, Rodrigo T RT; Townsley, Danielle M DM; Mufti, Ghulam J GJ
Adenomatoid tumors of the male and female genital tract are defined by TRAF7 mutations that drive aberrant NF-kB pathway activation.
Modern Pathology : An Official Journal Of The United States And Canadian Academy Of Pathology, Inc
Goode, Benjamin B; Joseph, Nancy M NM; Stevers, Meredith M; Van Ziffle, Jessica J; Onodera, Courtney C; Talevich, Eric E; Grenert, James P JP; Yeh, Iwei I; Bastian, Boris C BC; Phillips, Joanna J JJ; Garg, Karuna K; Rabban, Joseph T JT; Zaloudek, Charles C; Solomon, David A DA
A MUTYH germline mutation is associated with small intestinal neuroendocrine tumors.
Endocrine-Related Cancer
Dumanski, Jan P JP; Rasi, Chiara C; Björklund, Peyman P; Davies, Hanna H; Ali, Abir S AS; Grönberg, Malin M; Welin, Staffan S; Sorbye, Halfdan H; Grønbæk, Henning H; Cunningham, Janet L JL; Forsberg, Lars A LA; Lind, Lars L; Ingelsson, Erik E; Stålberg, Peter P; Hellman, Per P; Tiensuu Janson, Eva E
Publication Date: 2017-08
Variant appearance in text: TERT: Ala279Thr; rs61748181
Whole exome sequencing in the differential diagnosis of Diamond-Blackfan anemia: Clinical and molecular study of three patients with novel RPL5 and mosaic RPS19 mutations.
Blood Cells, Molecules & Diseases
Errichiello, Edoardo E; Vetro, Annalisa A; Mina, Tommaso T; Wischmeijer, Anita A; Berrino, Enrico E; Carella, Miriam M; Romagnoli, Maria M; Sacchini, Patrizia P; Venesio, Tiziana T; Zecca, Marco M; Zuffardi, Orsetta O
The Anatomy to Genomics (ATG) Start Genetics medical school initiative: incorporating exome sequencing data from cadavers used for Anatomy instruction into the first year curriculum.
Bmc Medical Genomics
Gerhard, Glenn S GS; Jin, Qunyan Q; Paynton, Barbara V BV; Popoff, Steven N SN
Rare variants analysis of cutaneous malignant melanoma genes in Parkinson's disease.
Neurobiology Of Aging
Lubbe, S J SJ; Escott-Price, V V; Brice, A A; Gasser, T T; Pittman, A M AM; Bras, J J; Hardy, J J; Heutink, P P; Wood, N M NM; Singleton, A B AB; Grosset, D G DG; Carroll, C B CB; Law, M H MH; Demenais, F F; Iles, M M MM; , ; Bishop, D T DT; Newton-Bishop, J J; Williams, N M NM; Morris, H R HR; ,
Three new pancreatic cancer susceptibility signals identified on chromosomes 1q32.1, 5p15.33 and 8q24.21.
Oncotarget
Zhang, Mingfeng M; Wang, Zhaoming Z; Obazee, Ofure O; Jia, Jinping J; Childs, Erica J EJ; Hoskins, Jason J; Figlioli, Gisella G; Mocci, Evelina E; Collins, Irene I; Chung, Charles C CC; Hautman, Christopher C; Arslan, Alan A AA; Beane-Freeman, Laura L; Bracci, Paige M PM; Buring, Julie J; Duell, Eric J EJ; Gallinger, Steven S; Giles, Graham G GG; Goodman, Gary E GE; Goodman, Phyllis J PJ; Kamineni, Aruna A; Kolonel, Laurence N LN; Kulke, Matthew H MH; Malats, Núria N; Olson, Sara H SH; Sesso, Howard D HD; Visvanathan, Kala K; White, Emily E; Zheng, Wei W; Abnet, Christian C CC; Albanes, Demetrius D; Andreotti, Gabriella G; Brais, Lauren L; Bueno-de-Mesquita, H Bas HB; Basso, Daniela D; Berndt, Sonja I SI; Boutron-Ruault, Marie-Christine MC; Bijlsma, Maarten F MF; Brenner, Hermann H; Burdette, Laurie L; Campa, Daniele D; Caporaso, Neil E NE; Capurso, Gabriele G; Cavestro, Giulia Martina GM; Cotterchio, Michelle M; Costello, Eithne E; Elena, Joanne J; Boggi, Ugo U; Gaziano, J Michael JM; Gazouli, Maria M; Giovannucci, Edward L EL; Goggins, Michael M; Gross, Myron M; Haiman, Christopher A CA; Hassan, Manal M; Helzlsouer, Kathy J KJ; Hu, Nan N; Hunter, David J DJ; Iskierka-Jazdzewska, Elzbieta E; Jenab, Mazda M; Kaaks, Rudolf R; Key, Timothy J TJ; Khaw, Kay-Tee KT; Klein, Eric A EA; Kogevinas, Manolis M; Krogh, Vittorio V; Kupcinskas, Juozas J; Kurtz, Robert C RC; Landi, Maria T MT; Landi, Stefano S; Le Marchand, Loic L; Mambrini, Andrea A; Mannisto, Satu S; Milne, Roger L RL; Neale, Rachel E RE; Oberg, Ann L AL; Panico, Salvatore S; Patel, Alpa V AV; Peeters, Petra H M PH; Peters, Ulrike U; Pezzilli, Raffaele R; Porta, Miquel M; Purdue, Mark M; Quiros, J Ramón JR; Riboli, Elio E; Rothman, Nathaniel N; Scarpa, Aldo A; Scelo, Ghislaine G; Shu, Xiao-Ou XO; Silverman, Debra T DT; Soucek, Pavel P; Strobel, Oliver O; Sund, Malin M; Małecka-Panas, Ewa E; Taylor, Philip R PR; Tavano, Francesca F; Travis, Ruth C RC; Thornquist, Mark M; Tjønneland, Anne A; Tobias, Geoffrey S GS; Trichopoulos, Dimitrios D; Vashist, Yogesh Y; Vodicka, Pavel P; Wactawski-Wende, Jean J; Wentzensen, Nicolas N; Yu, Herbert H; Yu, Kai K; Zeleniuch-Jacquotte, Anne A; Kooperberg, Charles C; Risch, Harvey A HA; Jacobs, Eric J EJ; Li, Donghui D; Fuchs, Charles C; Hoover, Robert R; Hartge, Patricia P; Chanock, Stephen J SJ; Petersen, Gloria M GM; Stolzenberg-Solomon, Rachael S RS; Wolpin, Brian M BM; Kraft, Peter P; Klein, Alison P AP; Canzian, Federico F; Amundadottir, Laufey T LT
Publication Date: 2016-10-11
Variant appearance in text: TERT: A279T; rs61748181
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
Fine mapping of chromosome 5p15.33 based on a targeted deep sequencing and high density genotyping identifies novel lung cancer susceptibility loci.
Carcinogenesis
Kachuri, Linda L; Amos, Christopher I CI; McKay, James D JD; Johansson, Mattias M; Vineis, Paolo P; Bueno-de-Mesquita, H Bas HB; Boutron-Ruault, Marie-Christine MC; Johansson, Mikael M; Quirós, J Ramón JR; Sieri, Sabina S; Travis, Ruth C RC; Weiderpass, Elisabete E; Le Marchand, Loic L; Henderson, Brian E BE; Wilkens, Lynne L; Goodman, Gary E GE; Chen, Chu C; Doherty, Jennifer A JA; Christiani, David C DC; Wei, Yongyue Y; Su, Li L; Tworoger, Shelley S; Zhang, Xuehong X; Kraft, Peter P; Zaridze, David D; Field, John K JK; Marcus, Michael W MW; Davies, Michael P A MPA; Hyde, Russell R; Caporaso, Neil E NE; Landi, Maria Teresa MT; Severi, Gianluca G; Giles, Graham G GG; Liu, Geoffrey G; McLaughlin, John R JR; Li, Yafang Y; Xiao, Xiangjun X; Fehringer, Gord G; Zong, Xuchen X; Denroche, Robert E RE; Zuzarte, Philip C PC; McPherson, John D JD; Brennan, Paul P; Hung, Rayjean J RJ
Publication Date: 2016-01
Variant appearance in text: TERT: Ala279Thr; rs61748181
Sequencing of idiopathic pulmonary fibrosis-related genes reveals independent single gene associations.
Bmj Open Respiratory Research
Coghlan, Meghan A MA; Shifren, Adrian A; Huang, Howard J HJ; Russell, Tonya D TD; Mitra, Robi D RD; Zhang, Qunyuan Q; Wegner, Daniel J DJ; Cole, F Sessions FS; Hamvas, Aaron A
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: TERT: A279T; rs61748181
NCI-60 whole exome sequencing and pharmacological CellMiner analyses.
Plos One
Reinhold, William C WC; Varma, Sudhir S; Sousa, Fabricio F; Sunshine, Margot M; Abaan, Ogan D OD; Davis, Sean R SR; Reinhold, Spencer W SW; Kohn, Kurt W KW; Morris, Joel J; Meltzer, Paul S PS; Doroshow, James H JH; Pommier, Yves Y
Publication Date: 2014
Variant appearance in text: TERT: A279T; rs61748181
Telomerase variant A279T induces telomere dysfunction and inhibits non-canonical telomerase activity in esophageal carcinomas.
Plos One
Zhang, Yuwei Y; Calado, Rodrigo R; Rao, Mahadev M; Hong, Julie A JA; Meeker, Alan K AK; Dumitriu, Bogdan B; Atay, Scott S; McCormick, Peter J PJ; Garfield, Susan H SH; Wangsa, Danny D; Padilla-Nash, Hesed M HM; Burkett, Sandra S; Zhang, Mary M; Kunst, Tricia F TF; Peterson, Nathan R NR; Xi, Sichuan S; Inchauste, Suzanne S; Altorki, Nasser K NK; Casson, Alan G AG; Beer, David G DG; Harris, Curtis C CC; Ried, Thomas T; Young, Neal S NS; Schrump, David S DS
Publication Date: 2014
Variant appearance in text: TERT: A279T; rs61748181
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
Telomere length and telomerase complex mutations in pediatric acute myeloid leukemia.
Leukemia
Aalbers, A M AM; Calado, R T RT; Young, N S NS; Zwaan, C M CM; Wu, C C; Kajigaya, S S; Coenen, E A EA; Baruchel, A A; Geleijns, K K; de Haas, V V; Kaspers, G J L GJ; Kuijpers, T W TW; Reinhardt, D D; Trka, J J; Zimmermann, M M; Pieters, R R; van der Velden, V H J VH; van den Heuvel-Eibrink, M M MM