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Record W2133857310 · doi:10.1038/ng.2566

Multiple independent variants at the TERT locus are associated with telomere length and risks of breast and ovarian cancer

2013· article· en· W2133857310 on OpenAlexafffund
Stig E. Bojesen, Karen A. Pooley, Sharon E. Johnatty, Jonathan Beesley, Kyriaki Michailidou, Jonathan P. Tyrer, Stacey L. Edwards, Hilda A. Pickett, Howard C. Shen, Chanel E. Smart, Kristine M. Hillman, Kate Lawrenson, Michael D. Stutz, Yi Lu, Rod Karevan, Nicholas T. Woods, Rebecca L. Johnston, Juliet D. French, Maren Weischer, Sune F. Nielsen, Melanie Maranian, Maya Ghoussaini, Shahana Ahmed, Caroline Baynes, Manjeet K. Bolla, Qin Wang, Joe Dennis, Lesley McGuffog, Daniel Barrowdale, Andrew Lee, Sue Healey, Michael Lush, Daniel C. Tessier, Daniel Vincent, Françis Bacot, Ignace Vergote, Sandrina Lambrechts, Evelyn Despierre, Harvey A. Risch, Anna González‐Neira, Mary Anne Rossing, Guillermo Pita, Jennifer A. Doherty, Núria Álvarez, Melissa C. Larson, Brooke L. Fridley, Nils Schoof, Jenny Chang‐Claude, Mine Cicek, Julian Peto, Kimberly R. Kalli, Annegien Broeks, Sebastian M. Armasu, Marjanka K. Schmidt, Linde M. Braaf, Boris Winterhoff, Heli Nevanlinna, Gottfried E. Konecny, Diether Lambrechts, Lisa Rogmann, Pascal Guénel, Attila Teoman, Roger L. Milne, Joaquín J. García, Angela Cox, Vijayalakshmi Shridhar, Barbara Burwinkel, Frederik Marmé, Rebecca Hein, Elinor J. Sawyer, Christopher A. Haiman, Shan Wang‐Gohrke, Irene L. Andrulis, Kirsten B. Moysich, John L. Hopper, Kunle Odunsi, Annika Lindblom, Graham G. Giles, Hermann Brenner, Jacques Simard, Galina Lurie, Peter A. Fasching, Michael E. Carney, Paolo Radice, Lynne R. Wilkens, Anthony J. Swerdlow, Marc T. Goodman, Hiltrud Brauch, Montserrat García‐Closas, Peter Hillemanns, Robert Winqvist, Matthias Dürst, Peter Devilee, Ingo B. Runnebaum, Anna Jakubowska, Jan Lubiński, Ralf Bützow, Natalia Bogdanova, Thilo Dörk, Liisa M. Pelttari, Wei Zheng, Arto Leminen, Hoda Anton‐Culver, Clareann H. Bunker, Vessela N. Kristensen, Roberta B. Ness, Kenneth Muir, Robert P. Edwards, Alfons Meindl, Florian Heitz, Keitaro Matsuo, Andreas du Bois, Anna H. Wu, Philipp Harter, Soo‐Hwang Teo, Ira Schwaab, Xiao‐Ou Shu, William J. Blot, Satoyo Hosono, Daehee Kang, Toru Nakanishi, Mikael Hartman, Yasushi Yatabe, Ute Hamann, Beth Y. Karlan, Suleeporn Sangrajrang, Susanne K. Kjær, Valérie Gaborieau, Allan Jensen, Diana Eccles, Estrid Høgdall, Chen‐Yang Shen, Judith Brown, Yin Ling Woo, Mitul Shah, Mat Adenan Noor Azmi, Robert Luben, Siti Zawiah Omar, Kamila Czene, Robert A. Vierkant, Børge G. Nordestgaard, Henrik Flyger, Celine M. Vachon, Janet E. Olson, Xianshu Wang, Douglas A. Levine, Anja Rudolph, Rachel Palmieri Weber, Dieter Flesch‐Janys, Edwin S. Iversen, Stefan Nickels, Joellen M. Schildkraut, Isabel dos‐Santos‐Silva, Daniel W. Cramer, Lorna J. Gibson, Kathryn L. Terry, Olivia Fletcher, Allison F. Vitonis, C. Ellen van der Schoot, Elizabeth M. Poole, Frans B.L. Hogervorst, Shelley S. Tworoger, Jianjun Liu, Elisa V. Bandera, Jingmei Li, Sara H. Olson, Keith Humphreys, Irene Orlow, Carl Blomqvist, Lorna Rodríguez-Rodríguez, Kristiina Aittomäki, Helga B. Salvesen, Taru Muranen, Elisabeth Wik, Barbara Brouwers, Camilla Krakstad, Els Wauters, Mari K. Halle, Hans Wildiers, Lambertus A. Kiemeney, Claire Mulot, Katja K.H. Aben, Pierre Laurent‐Puig, Anne Mvan Altena, Thérèse Truong, Leon F.A.G. Massuger, Javier Benı́tez, Tanja Pejović, José Ignacio Arias Pérez, Maureen E. Hoatlin, M. Pilar Zamora, Linda S. Cook, Sabapathy P. Balasubramanian, Linda E. Kelemen, Andreas Schneeweiß, Nhu D. Le, Christof Sohn, Angela Brooks‐Wilson, Ian Tomlinson, Michael J. Kerin, Nicola Miller, Cezary Cybulski, Brian E. Henderson, Janusz Menkiszak, Fredrick R. Schumacher, Nicolas Wentzensen, Loı̈c Le Marchand, Hannah Yang, Anna Marie Mulligan, Gord Glendon, Svend Aage Engelholm, Julia A. Knight, Claus Høgdall, Carmel Apicella, Martin Gore, Helen Tsimiklis, Honglin Song, Melissa C. Southey, Agnes Jager, Ans M. W. den Van Ouweland, Robert Brown, John W.M. Martens, James M. Flanagan, Mieke Kriege, James Paul, Sara Margolin, Nadeem Siddiqui, Gianluca Severi, Alice S. Whittemore, Laura Baglietto, Valerie McGuire, Christa Stegmaier, Weiva Sieh, Heiko Müller, Volker Arndt, France Labrèche, Yu-Tang Gao, Mark S. Goldberg, Gong Yang, Martine Dumont, Arndt Hartmann, Arif B. Ekici, Matthias W. Beckmann, Catherine M. Phelan, Michael P. Lux, Jenny Permuth‐Wey, Bernard Peissel, Thomas A. Sellers, Filomena Ficarazzi, Monica Barile, Argyrios Ziogas, Alan Ashworth, Aleksandra Gentry‐Maharaj, Michael E. Jones, Susan J. Ramus, Nick Orr, Usha Menon, Celeste Leigh Pearce, Thomas Brüning, Malcolm C. Pike, Yon‐Dschun Ko, Jolanta Lissowska, Jonine D. Figueroa, Jolanta Kupryjańczyk, Stephen J. Chanock, Agnieszka Dansonka‐Mieszkowska, Arja Jukkola‐Vuorinen, Iwona K. Rzepecka, Katri Pylkäs, Mariusz Bidziński, Saila Kauppila, Antoinette Hollestelle, Caroline Seynaeve, Rob A.�E.�M. Tollenaar, Katarzyna Durda, Katarzyna Jaworska, Jaana M. Hartikainen, Veli-Matti Kosma, Vesa Kataja, Natalia Antonenkova, Jirong Long, Martha J. Shrubsole, Sandra Deming-Halverson, Artitaya Lophatananon, Pornthep Siriwanarangsan, Sarah Stewart‐Brown, Nina Ditsch, Peter Lichtner, Rita K. Schmutzler, Hidemi Ito, Hiroji Iwata, Kazuo Tajima, Chiu-Chen Tseng, Daniel O. Stram, David Van Den Berg, Cheng Har Yip, M. Kamran Ikram, Yew-Ching Teh, Hui Cai, Wei Lu, Lisa B. Signorello, Qiuyin Cai, Dong‐Young Noh, Keun-Young Yoo, Hui Miao, Philip Tsau-Choong Iau, Yik Ying Teo, James McKay, Charles L. Shapiro, Foluso O. Ademuyiwa, George Fountzilas, Chia-Ni Hsiung, Jyh-Cherng Yu, Ming‐Feng Hou, Catherine S. Healey, Craig Luccarini, Susan Peock, Dominique Stoppa‐Lyonnet, Paolo Peterlongo, Timothy R. Rebbeck, Marion Piedmonte, Christian F. Singer, Eitan Friedman, Mads Thomassen, Kenneth Offit, Thomas van Overeem Hansen, Susan L. Neuhausen, Csilla I. Szabo, Ignacio Blanco, Judy E. Garber, Steven A. Narod, Jeffrey N. Weitzel, Marco Montagna, Edith Oláh, Andrew K. Godwin, Drakoulis Yannoukakos, David E. Goldgar, Trinidad Caldés, Evgeny N. Imyanitov, Laima Tihomirova, Banu Arun, Ian Campbell, Arjen R. Mensenkamp, Christi J. van Asperen, Kees E. P. van Roozendaal, Hanne Meijers‐Heijboer, J. Margriet Collée, Jan C. Oosterwijk, Maartje J. Hooning, Matti A. Rookus, Rob B. van der Luijt, Theo A.M. van Os, D. Gareth Evans, Debra Frost, Elena Fineberg, Julian Barwell, Lisa Walker, Michael J. Kennedy, Radka Platte, Rosemarie Davidson, Steve D. Ellis, Trevor Cole, Brigitte Bressac–de Paillerets, Bruno Buecher, Francesca Damiola, Laurence Faivre, Marc Frénay, Olga M. Sinilnikova, Olivier Caron, Sophie Giraud, Sylvie Mazoyer, Valérie Bonadona, Virginie Caux‐Moncoutier, Aleksandra Tołoczko‐Grabarek, Jacek Gronwald, Tomasz Byrski, Amanda B. Spurdle, Bernardo Bonanni, Daniela Zaffaroni, Giuseppe Giannini, Loris Bernard, Riccardo Dolcetti, Siranoush Manoukian, Norbert Arnold, Christoph Engel, Helmut Deißler, Kerstin Rhiem, Dieter Niederacher, Hansjoerg Plendl, Christian Sutter, Barbara Wappenschmidt, Åke Borg, Beatrice Melin, Johanna Rantala, Maria Soller, Katherine L. Nathanson, Susan M. Domchek, Gustavo C. Rodriguez, Ritu Salani, Daphne Gschwantler Kaulich, Muy-Kheng M. Tea, Shani Shimon Paluch, Yael Laitman, Anne‐Bine Skytte, Torben A. Kruse, Uffe Birk Jensen, Mark E. Robson, Anne‐Marie Gerdes, Bent Ejlertsen, Lenka Foretová, Sharon A. Savage, Jenny Lester, Penny Soucy, Karoline Kuchenbaecker, Curtis Olswold, Julie M. Cunningham, Susan Slager, V. Shane Pankratz, Ed Dicks, Sunil R. Lakhani, Fergus J. Couch, Per Hall, Álvaro N.A. Monteiro, Simon A. Gayther, Paul D.P. Pharoah, Roger R. Reddel, Ellen L. Goode, Mark H. Greene, Douglas F. Easton, Andrew Berchuck, Antonis C. Antoniou, Georgia Chenevix‐Trench, Alison M. Dunning

Bibliographic record

VenueNature Genetics · 2013
Typearticle
Languageen
FieldMedicine
TopicTelomeres, Telomerase, and Senescence
Canadian institutionsUniversité de MontréalUniversity Health NetworkMount Sinai HospitalLunenfeld-Tanenbaum Research InstituteUniversity of CalgaryBC Cancer AgencyAlberta Health ServicesUniversité LavalMcGill UniversitySimon Fraser UniversityWomen's College HospitalRoyal Victoria HospitalCentre hospitalier universitaire de QuébecUniversity of TorontoPublic Health OntarioMcGill University and Génome Québec Innovation Centre
FundersNational Institute for Health and Care ResearchCanadian Institutes of Health ResearchEuropean CommissionNational Cancer InstituteCancer Research UKWellcome Trust
KeywordsBiologyTelomereLocus (genetics)Breast cancerGeneticsOvarian cancerCancerGene

Abstract

fetched live from OpenAlex
No abstract in any covered source. Its absence is recorded, not treated as a negative.

No abstract. This is not a gap in this database; OpenAlex has none either. 23.3% of the frame is in this state, and the screen finds HALF as much metaresearch here, so the absence is a measured bias rather than a missing field.

How this classification was reachedexpand

Full frame machine prediction

Teacher imitation

Not calibrated prevalence, not ground truth. Human validation pending. The Gemma side is a direct model label for every work in the frame, read from the title-only record. The Codex side is a classifier learned from the 10,348 direct Codex labels and calibrated to design-weighted sample rates; fields without enough sample support carry no Codex call. Candidate is the union of the two sides; consensus is their intersection. These outputs are machine_predicted_unvalidated and are not human labels.

metaresearch head score (Codex)0.000
metaresearch head score (Gemma)0.002
Version: metacan-v3-hybrid-931329e0061cValidation status: machine_predicted_unvalidated
Candidate categoriesnone
Consensus categoriesnone
DomainCandidate signal: none · Consensus signal: none
Study designCandidate signal: Observational · Consensus signal: Observational
GenreCandidate signal: Empirical · Consensus signal: Empirical
Teacher disagreement score0.003
Threshold uncertainty score0.008

Distilled classifier scores by category (both heads)

CategoryCodexGemma
Metaresearch0.0000.002
Meta-epidemiology (narrow)0.0010.000
Meta-epidemiology (broad)0.0000.001
Bibliometrics0.0010.001
Science and technology studies0.0000.000
Scholarly communication0.0010.000
Open science0.0000.000
Research integrity0.0010.001
Insufficient payload (model declined to judge)0.0030.000

Machine scores (provisional)

The two teacher heads of the student model, read on this work. A score orders the frame for review; it never asserts a category, and the validation status ships verbatim with every row.

Baseline scores from an immature model (maturity gate not passed, 7 training rounds). Scores rank; they never assert a category.

Opus teacher head0.017
GPT teacher head0.266
Teacher spread0.249 · how far apart the two teachers sit on this one work
Validation statusscore_only:v0-immature-baseline · verbatim from the scoring run: score_only means the number may rank works, and no category label ships from it

Classification

machine, unvalidated

Machine predicted; a candidate call from one source (direct Gemma or distilled Codex), not a consensus.

The models applied no category: nothing in the taxonomy fit this work.
Study designObservational
Domainnot available
GenreEmpirical

How this classification was reached, model by model and score by score, is at the end of the page under "How this classification was reached".

Quick stats

Citations540
Published2013
Admission routes2
Has abstractno

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Same venueNature GeneticsSame topicTelomeres, Telomerase, and SenescenceFrench-language works237,207