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

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, Phuong L. Mai, Kate Lawrenson, Michael D. Stutz, Yi Lu, Rod Karevan, Nicholas Woods, Rebecca L. Johnston, Juliet D. French, Xiaoqing Chen & 417 others Maren Weischer, Sune F. Nielsen, Melanie J. 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, Nuria Álvarez, Melissa C. Larson, Brooke L. Fridley, Nils Schoof, Jenny Chang-Claude, Mine S. 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, Joaquin J. Garcia, Angela Cox, Vijayalakshmi Shridhar, Barbara Burwinkel, Frederik Marme, 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 Swerdlow, Marc T. Goodman, Hiltrud Brauch, Montserrat Garcia-Closas, Peter Hillemanns, Robert Winqvist, Matthias Dürst, Peter Devilee, Ingo Runnebaum, Anna Jakubowska, Jan Lubinski, Arto Mannermaa, Ralf Butzow, Natalia V. Bogdanova, Thilo Dörk, Liisa M. Pelttari, Wei Zheng, Arto Leminen, Hoda Anton-Culver, Clareann H. Bunker, Vessela Kristensen, Roberta B. Ness, Kenneth Muir, Robert Edwards, Alfons Meindl, Florian Heitz, Keitaro Matsuo, Andreas Du Bois, Anna H. Wu, Philipp Harter, Soo Hwang Teo, Ira Schwaab, Xiao Ou Shu, William Blot, Satoyo Hosono, Daehee Kang, Toru Nakanishi, Mikael Hartman, Yasushi Yatabe, Ute Hamann, Beth Y. Karlan, Suleeporn Sangrajrang, Susanne Krüger Kjaer, Valerie 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 Vachon, Janet E. Olson, Xianshu Wang, Douglas A. Levine, Anja Rudolph, Rachel Palmieri Weber, Dieter Flesch-Janys, Edwin Iversen, Stefan Nickels, Joellen M. Schildkraut, Isabel Dos Santos Silva, Daniel W. Cramer, Lorna 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 Rodriguez-Rodriguez, Kristiina Aittomäki, Helga B. Salvesen, Taru A. Muranen, Elisabeth Wik, Barbara Brouwers, Camilla Krakstad, Els Wauters, Mari K. Halle, Hans Wildiers, Lambertus A. Kiemeney, Claire Mulot, Katja K. Aben, Pierre Laurent-Puig, Anne Mvan Altena, Thérèse Truong, Leon F A G Massuger, Javier Benitez, Tanja Pejovic, Jose Ignacio Arias Perez, Maureen 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 Schumacher, Nicolas Wentzensen, Loic Le Marchand, Hannah P. Yang, Anna Marie Mulligan, Gord Glendon, Svend Aage Engelholm, Julia A. Knight, Claus K. Høgdall, Carmel Apicella, Martin Gore, Helen Tsimiklis, Honglin Song, Melissa C. Southey, Agnes Jager, Ans M Wvan Den 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, John R. McLaughlin, 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 Jones, Susan J. Ramus, Nick Orr, Usha Menon, Celeste L. Pearce, Thomas Brüning, Malcolm C. Pike, Yon Dschun Ko, Jolanta Lissowska, Jonine Figueroa, Jolanta Kupryjanczyk, Stephen J. Chanock, Agnieszka Dansonka-Mieszkowska, Arja Jukkola-Vuorinen, Iwona K. Rzepecka, Katri Pylkäs, Mariusz Bidzinski, Saila Kauppila, Antoinette Hollestelle, Caroline Seynaeve, Rob A E M Tollenaar, Katarzyna Durda, Katarzyna Jaworska, Jaana M. Hartikainen, Veli Matti Kosma, Vesa Kataja, Natalia N. Antonenkova, Jirong Long, Martha 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 Shapiro, Foluso 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 V O Hansen, Susan L. Neuhausen, Csilla I. Szabo, Ignacio Blanco, Judy Garber, Steven A. Narod, Jeffrey N. Weitzel, Marco Montagna, Edith Olah, Andrew K. Godwin, Drakoulis Yannoukakos, David E. Goldgar, Trinidad Caldes, Evgeny N. Imyanitov, Laima Tihomirova, Banu K. 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 Mvan Os, D. Gareth Evans, Debra Frost, Elena Fineberg, Julian Barwell, Lisa Walker, M. John Kennedy, Radka Platte, Rosemarie Davidson, Steve D. Ellis, Trevor Cole, Brigitte Bressac-De Paillerets, Bruno Buecher, Francesca Damiola, Laurence Faivre, Marc Frenay, Olga M. Sinilnikova, Olivier Caron, Sophie Giraud, Sylvie Mazoyer, Valérie Bonadona, Virginie Caux-Moncoutier, Aleksandra Toloczko-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 Tea, Shani Shimon Paluch, Yael Laitman, Anne Bine Skytte, Torben A. Kruse, Uffe Birk Jensen, Mark Robson, Anne Marie Gerdes, Bent Ejlertsen, Lenka Foretova, Sharon A. Savage, Jenny Lester, Penny Soucy, Karoline B. Kuchenbaecker, Curtis Olswold, Julie M. Cunningham, Susan Slager, Vernon S. Pankratz, Ed Dicks, Sunil R. Lakhani, Fergus J. Couch, Per Hall, Alvaro 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

Research output: Contribution to journalArticle

333 Citations (Scopus)

Abstract

TERT-locus SNPs and leukocyte telomere measures are reportedly associated with risks of multiple cancers. Using the Illumina custom genotyping array iCOGs, we analyzed ∼480 SNPs at the TERT locus in breast (n = 103,991), ovarian (n = 39,774) and BRCA1 mutation carrier (n = 11,705) cancer cases and controls. Leukocyte telomere measurements were also available for 53,724 participants. Most associations cluster into three independent peaks. The minor allele at the peak 1 SNP rs2736108 associates with longer telomeres (P = 5.8 × 10 -7), lower risks for estrogen receptor (ER)-negative (P = 1.0 × 10 -8) and BRCA1 mutation carrier (P = 1.1 × 10 -5) breast cancers and altered promoter assay signal. The minor allele at the peak 2 SNP rs7705526 associates with longer telomeres (P = 2.3 × 10 -14), higher risk of low-malignant-potential ovarian cancer (P = 1.3 × 10 -15) and greater promoter activity. The minor alleles at the peak 3 SNPs rs10069690 and rs2242652 increase ER-negative (P = 1.2 × 10 -12) and BRCA1 mutation carrier (P = 1.6 × 10 -14) breast and invasive ovarian (P = 1.3 × 10 -11) cancer risks but not via altered telomere length. The cancer risk alleles of rs2242652 and rs10069690, respectively, increase silencing and generate a truncated TERT splice variant.

Original languageEnglish (US)
Pages (from-to)371-384
Number of pages14
JournalNature Genetics
Volume45
Issue number4
DOIs
StatePublished - Apr 2013

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Telomere
Ovarian Neoplasms
Single Nucleotide Polymorphism
Breast Neoplasms
Alleles
Estrogen Receptors
Mutation
Neoplasms
Breast
Leukocytes

ASJC Scopus subject areas

  • Genetics

Cite this

Bojesen, S. E., Pooley, K. A., Johnatty, S. E., Beesley, J., Michailidou, K., Tyrer, J. P., ... Dunning, A. M. (2013). Multiple independent variants at the TERT locus are associated with telomere length and risks of breast and ovarian cancer. Nature Genetics, 45(4), 371-384. https://doi.org/10.1038/ng.2566

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

In: Nature Genetics, Vol. 45, No. 4, 04.2013, p. 371-384.

Research output: Contribution to journalArticle

Bojesen, SE, Pooley, KA, Johnatty, SE, Beesley, J, Michailidou, K, Tyrer, JP, Edwards, SL, Pickett, HA, Shen, HC, Smart, CE, Hillman, KM, Mai, PL, Lawrenson, K, Stutz, MD, Lu, Y, Karevan, R, Woods, N, Johnston, RL, French, JD, Chen, X, Weischer, M, Nielsen, SF, Maranian, MJ, Ghoussaini, M, Ahmed, S, Baynes, C, Bolla, MK, Wang, Q, Dennis, J, McGuffog, L, Barrowdale, D, Lee, A, Healey, S, Lush, M, Tessier, DC, Vincent, D, Bacot, F, Vergote, I, Lambrechts, S, Despierre, E, Risch, HA, González-Neira, A, Rossing, MA, Pita, G, Doherty, JA, Álvarez, N, Larson, MC, Fridley, BL, Schoof, N, Chang-Claude, J, Cicek, MS, Peto, J, Kalli, KR, Broeks, A, Armasu, SM, Schmidt, MK, Braaf, LM, Winterhoff, B, Nevanlinna, H, Konecny, GE, Lambrechts, D, Rogmann, L, Guénel, P, Teoman, A, Milne, RL, Garcia, JJ, Cox, A, Shridhar, V, Burwinkel, B, Marme, F, Hein, R, Sawyer, EJ, Haiman, CA, Wang-Gohrke, S, Andrulis, IL, Moysich, KB, Hopper, JL, Odunsi, K, Lindblom, A, Giles, GG, Brenner, H, Simard, J, Lurie, G, Fasching, PA, Carney, ME, Radice, P, Wilkens, LR, Swerdlow, A, Goodman, MT, Brauch, H, Garcia-Closas, M, Hillemanns, P, Winqvist, R, Dürst, M, Devilee, P, Runnebaum, I, Jakubowska, A, Lubinski, J, Mannermaa, A, Butzow, R, Bogdanova, NV, Dörk, T, Pelttari, LM, Zheng, W, Leminen, A, Anton-Culver, H, Bunker, CH, Kristensen, V, Ness, RB, Muir, K, Edwards, R, Meindl, A, Heitz, F, Matsuo, K, Du Bois, A, Wu, AH, Harter, P, Teo, SH, Schwaab, I, Shu, XO, Blot, W, Hosono, S, Kang, D, Nakanishi, T, Hartman, M, Yatabe, Y, Hamann, U, Karlan, BY, Sangrajrang, S, Kjaer, SK, Gaborieau, V, Jensen, A, Eccles, D, Høgdall, E, Shen, CY, Brown, J, Woo, YL, Shah, M, Azmi, MAN, Luben, R, Omar, SZ, Czene, K, Vierkant, RA, Nordestgaard, BG, Flyger, H, Vachon, C, Olson, JE, Wang, X, Levine, DA, Rudolph, A, Weber, RP, Flesch-Janys, D, Iversen, E, Nickels, S, Schildkraut, JM, Silva, IDS, Cramer, DW, Gibson, L, Terry, KL, Fletcher, O, Vitonis, AF, Van Der Schoot, CE, Poole, EM, Hogervorst, FBL, Tworoger, SS, Liu, J, Bandera, EV, Li, J, Olson, SH, Humphreys, K, Orlow, I, Blomqvist, C, Rodriguez-Rodriguez, L, Aittomäki, K, Salvesen, HB, Muranen, TA, Wik, E, Brouwers, B, Krakstad, C, Wauters, E, Halle, MK, Wildiers, H, Kiemeney, LA, Mulot, C, Aben, KK, Laurent-Puig, P, Altena, AM, Truong, T, Massuger, LFAG, Benitez, J, Pejovic, T, Perez, JIA, Hoatlin, M, Zamora, MP, Cook, LS, Balasubramanian, SP, Kelemen, LE, Schneeweiss, A, Le, ND, Sohn, C, Brooks-Wilson, A, Tomlinson, I, Kerin, MJ, Miller, N, Cybulski, C, Henderson, BE, Menkiszak, J, Schumacher, F, Wentzensen, N, Le Marchand, L, Yang, HP, Mulligan, AM, Glendon, G, Engelholm, SA, Knight, JA, Høgdall, CK, Apicella, C, Gore, M, Tsimiklis, H, Song, H, Southey, MC, Jager, A, Den Ouweland, AMW, Brown, R, Martens, JWM, Flanagan, JM, Kriege, M, Paul, J, Margolin, S, Siddiqui, N, Severi, G, Whittemore, AS, Baglietto, L, McGuire, V, Stegmaier, C, Sieh, W, Müller, H, Arndt, V, Labrèche, F, Gao, YT, Goldberg, MS, Yang, G, Dumont, M, McLaughlin, JR, Hartmann, A, Ekici, AB, Beckmann, MW, Phelan, CM, Lux, MP, Permuth-Wey, J, Peissel, B, Sellers, TA, Ficarazzi, F, Barile, M, Ziogas, A, Ashworth, A, Gentry-Maharaj, A, Jones, M, Ramus, SJ, Orr, N, Menon, U, Pearce, CL, Brüning, T, Pike, MC, Ko, YD, Lissowska, J, Figueroa, J, Kupryjanczyk, J, Chanock, SJ, Dansonka-Mieszkowska, A, Jukkola-Vuorinen, A, Rzepecka, IK, Pylkäs, K, Bidzinski, M, Kauppila, S, Hollestelle, A, Seynaeve, C, Tollenaar, RAEM, Durda, K, Jaworska, K, Hartikainen, JM, Kosma, VM, Kataja, V, Antonenkova, NN, Long, J, Shrubsole, M, Deming-Halverson, S, Lophatananon, A, Siriwanarangsan, P, Stewart-Brown, S, Ditsch, N, Lichtner, P, Schmutzler, RK, Ito, H, Iwata, H, Tajima, K, Tseng, CC, Stram, DO, Van Den Berg, D, Yip, CH, Ikram, MK, Teh, YC, Cai, H, Lu, W, Signorello, LB, Cai, Q, Noh, DY, Yoo, KY, Miao, H, Iau, PTC, Teo, YY, McKay, J, Shapiro, C, Ademuyiwa, F, Fountzilas, G, Hsiung, CN, Yu, JC, Hou, MF, Healey, CS, Luccarini, C, Peock, S, Stoppa-Lyonnet, D, Peterlongo, P, Rebbeck, TR, Piedmonte, M, Singer, CF, Friedman, E, Thomassen, M, Offit, K, Hansen, TVO, Neuhausen, SL, Szabo, CI, Blanco, I, Garber, J, Narod, SA, Weitzel, JN, Montagna, M, Olah, E, Godwin, AK, Yannoukakos, D, Goldgar, DE, Caldes, T, Imyanitov, EN, Tihomirova, L, Arun, BK, Campbell, I, Mensenkamp, AR, Van Asperen, CJ, Van Roozendaal, KEP, Meijers-Heijboer, H, Collée, JM, Oosterwijk, JC, Hooning, MJ, Rookus, MA, Van Der Luijt, RB, Os, TAM, Evans, DG, Frost, D, Fineberg, E, Barwell, J, Walker, L, Kennedy, MJ, Platte, R, Davidson, R, Ellis, SD, Cole, T, Bressac-De Paillerets, B, Buecher, B, Damiola, F, Faivre, L, Frenay, M, Sinilnikova, OM, Caron, O, Giraud, S, Mazoyer, S, Bonadona, V, Caux-Moncoutier, V, Toloczko-Grabarek, A, Gronwald, J, Byrski, T, Spurdle, AB, Bonanni, B, Zaffaroni, D, Giannini, G, Bernard, L, Dolcetti, R, Manoukian, S, Arnold, N, Engel, C, Deissler, H, Rhiem, K, Niederacher, D, Plendl, H, Sutter, C, Wappenschmidt, B, Borg, Å, Melin, B, Rantala, J, Soller, M, Nathanson, KL, Domchek, SM, Rodriguez, GC, Salani, R, Kaulich, DG, Tea, MK, Paluch, SS, Laitman, Y, Skytte, AB, Kruse, TA, Jensen, UB, Robson, M, Gerdes, AM, Ejlertsen, B, Foretova, L, Savage, SA, Lester, J, Soucy, P, Kuchenbaecker, KB, Olswold, C, Cunningham, JM, Slager, S, Pankratz, VS, Dicks, E, Lakhani, SR, Couch, FJ, Hall, P, Monteiro, ANA, Gayther, SA, Pharoah, PDP, Reddel, RR, Goode, EL, Greene, MH, Easton, DF, Berchuck, A, Antoniou, AC, Chenevix-Trench, G & Dunning, AM 2013, 'Multiple independent variants at the TERT locus are associated with telomere length and risks of breast and ovarian cancer', Nature Genetics, vol. 45, no. 4, pp. 371-384. https://doi.org/10.1038/ng.2566
Bojesen, Stig E. ; Pooley, Karen A. ; Johnatty, Sharon E. ; Beesley, Jonathan ; Michailidou, Kyriaki ; Tyrer, Jonathan P. ; Edwards, Stacey L. ; Pickett, Hilda A. ; Shen, Howard C. ; Smart, Chanel E. ; Hillman, Kristine M. ; Mai, Phuong L. ; Lawrenson, Kate ; Stutz, Michael D. ; Lu, Yi ; Karevan, Rod ; Woods, Nicholas ; Johnston, Rebecca L. ; French, Juliet D. ; Chen, Xiaoqing ; Weischer, Maren ; Nielsen, Sune F. ; Maranian, Melanie J. ; Ghoussaini, Maya ; Ahmed, Shahana ; Baynes, Caroline ; Bolla, Manjeet K. ; Wang, Qin ; Dennis, Joe ; McGuffog, Lesley ; Barrowdale, Daniel ; Lee, Andrew ; Healey, Sue ; Lush, Michael ; Tessier, Daniel C. ; Vincent, Daniel ; Bacot, Françis ; Vergote, Ignace ; Lambrechts, Sandrina ; Despierre, Evelyn ; Risch, Harvey A. ; González-Neira, Anna ; Rossing, Mary Anne ; Pita, Guillermo ; Doherty, Jennifer A. ; Álvarez, Nuria ; Larson, Melissa C. ; Fridley, Brooke L. ; Schoof, Nils ; Chang-Claude, Jenny ; Cicek, Mine S. ; Peto, Julian ; Kalli, Kimberly R. ; Broeks, Annegien ; Armasu, Sebastian M. ; Schmidt, Marjanka K. ; Braaf, Linde M. ; Winterhoff, Boris ; Nevanlinna, Heli ; Konecny, Gottfried E. ; Lambrechts, Diether ; Rogmann, Lisa ; Guénel, Pascal ; Teoman, Attila ; Milne, Roger L. ; Garcia, Joaquin J. ; Cox, Angela ; Shridhar, Vijayalakshmi ; Burwinkel, Barbara ; Marme, Frederik ; Hein, Rebecca ; Sawyer, Elinor J. ; Haiman, Christopher A. ; Wang-Gohrke, Shan ; Andrulis, Irene L. ; Moysich, Kirsten B. ; Hopper, John L. ; Odunsi, Kunle ; Lindblom, Annika ; Giles, Graham G. ; Brenner, Hermann ; Simard, Jacques ; Lurie, Galina ; Fasching, Peter A. ; Carney, Michael E. ; Radice, Paolo ; Wilkens, Lynne R. ; Swerdlow, Anthony ; Goodman, Marc T. ; Brauch, Hiltrud ; Garcia-Closas, Montserrat ; Hillemanns, Peter ; Winqvist, Robert ; Dürst, Matthias ; Devilee, Peter ; Runnebaum, Ingo ; Jakubowska, Anna ; Lubinski, Jan ; Mannermaa, Arto ; Butzow, Ralf ; Bogdanova, Natalia V. ; Dörk, Thilo ; Pelttari, Liisa M. ; Zheng, Wei ; Leminen, Arto ; Anton-Culver, Hoda ; Bunker, Clareann H. ; Kristensen, Vessela ; Ness, Roberta B. ; Muir, Kenneth ; Edwards, Robert ; Meindl, Alfons ; Heitz, Florian ; Matsuo, Keitaro ; Du Bois, Andreas ; Wu, Anna H. ; Harter, Philipp ; Teo, Soo Hwang ; Schwaab, Ira ; Shu, Xiao Ou ; Blot, William ; Hosono, Satoyo ; Kang, Daehee ; Nakanishi, Toru ; Hartman, Mikael ; Yatabe, Yasushi ; Hamann, Ute ; Karlan, Beth Y. ; Sangrajrang, Suleeporn ; Kjaer, Susanne Krüger ; Gaborieau, Valerie ; Jensen, Allan ; Eccles, Diana ; Høgdall, Estrid ; Shen, Chen Yang ; Brown, Judith ; Woo, Yin Ling ; Shah, Mitul ; Azmi, Mat Adenan Noor ; Luben, Robert ; Omar, Siti Zawiah ; Czene, Kamila ; Vierkant, Robert A. ; Nordestgaard, Børge G. ; Flyger, Henrik ; Vachon, Celine ; Olson, Janet E. ; Wang, Xianshu ; Levine, Douglas A. ; Rudolph, Anja ; Weber, Rachel Palmieri ; Flesch-Janys, Dieter ; Iversen, Edwin ; Nickels, Stefan ; Schildkraut, Joellen M. ; Silva, Isabel Dos Santos ; Cramer, Daniel W. ; Gibson, Lorna ; Terry, Kathryn L. ; Fletcher, Olivia ; Vitonis, Allison F. ; Van Der Schoot, C. Ellen ; Poole, Elizabeth M. ; Hogervorst, Frans B L ; Tworoger, Shelley S. ; Liu, Jianjun ; Bandera, Elisa V. ; Li, Jingmei ; Olson, Sara H. ; Humphreys, Keith ; Orlow, Irene ; Blomqvist, Carl ; Rodriguez-Rodriguez, Lorna ; Aittomäki, Kristiina ; Salvesen, Helga B. ; Muranen, Taru A. ; Wik, Elisabeth ; Brouwers, Barbara ; Krakstad, Camilla ; Wauters, Els ; Halle, Mari K. ; Wildiers, Hans ; Kiemeney, Lambertus A. ; Mulot, Claire ; Aben, Katja K. ; Laurent-Puig, Pierre ; Altena, Anne Mvan ; Truong, Thérèse ; Massuger, Leon F A G ; Benitez, Javier ; Pejovic, Tanja ; Perez, Jose Ignacio Arias ; Hoatlin, Maureen ; Zamora, M. Pilar ; Cook, Linda S. ; Balasubramanian, Sabapathy P. ; Kelemen, Linda E. ; Schneeweiss, Andreas ; Le, Nhu D. ; Sohn, Christof ; Brooks-Wilson, Angela ; Tomlinson, Ian ; Kerin, Michael J. ; Miller, Nicola ; Cybulski, Cezary ; Henderson, Brian E. ; Menkiszak, Janusz ; Schumacher, Fredrick ; Wentzensen, Nicolas ; Le Marchand, Loic ; Yang, Hannah P. ; Mulligan, Anna Marie ; Glendon, Gord ; Engelholm, Svend Aage ; Knight, Julia A. ; Høgdall, Claus K. ; Apicella, Carmel ; Gore, Martin ; Tsimiklis, Helen ; Song, Honglin ; Southey, Melissa C. ; Jager, Agnes ; Den Ouweland, Ans M Wvan ; Brown, Robert ; Martens, John W M ; Flanagan, James M. ; Kriege, Mieke ; Paul, James ; Margolin, Sara ; Siddiqui, Nadeem ; Severi, Gianluca ; Whittemore, Alice S. ; Baglietto, Laura ; McGuire, Valerie ; Stegmaier, Christa ; Sieh, Weiva ; Müller, Heiko ; Arndt, Volker ; Labrèche, France ; Gao, Yu Tang ; Goldberg, Mark S. ; Yang, Gong ; Dumont, Martine ; McLaughlin, John R. ; Hartmann, Arndt ; Ekici, Arif B. ; Beckmann, Matthias W. ; Phelan, Catherine M. ; Lux, Michael P. ; Permuth-Wey, Jenny ; Peissel, Bernard ; Sellers, Thomas A. ; Ficarazzi, Filomena ; Barile, Monica ; Ziogas, Argyrios ; Ashworth, Alan ; Gentry-Maharaj, Aleksandra ; Jones, Michael ; Ramus, Susan J. ; Orr, Nick ; Menon, Usha ; Pearce, Celeste L. ; Brüning, Thomas ; Pike, Malcolm C. ; Ko, Yon Dschun ; Lissowska, Jolanta ; Figueroa, Jonine ; Kupryjanczyk, Jolanta ; Chanock, Stephen J. ; Dansonka-Mieszkowska, Agnieszka ; Jukkola-Vuorinen, Arja ; Rzepecka, Iwona K. ; Pylkäs, Katri ; Bidzinski, Mariusz ; Kauppila, Saila ; Hollestelle, Antoinette ; Seynaeve, Caroline ; Tollenaar, Rob A E M ; Durda, Katarzyna ; Jaworska, Katarzyna ; Hartikainen, Jaana M. ; Kosma, Veli Matti ; Kataja, Vesa ; Antonenkova, Natalia N. ; Long, Jirong ; Shrubsole, Martha ; Deming-Halverson, Sandra ; Lophatananon, Artitaya ; Siriwanarangsan, Pornthep ; Stewart-Brown, Sarah ; Ditsch, Nina ; Lichtner, Peter ; Schmutzler, Rita K. ; Ito, Hidemi ; Iwata, Hiroji ; Tajima, Kazuo ; Tseng, Chiu Chen ; Stram, Daniel O. ; Van Den Berg, David ; Yip, Cheng Har ; Ikram, M. Kamran ; Teh, Yew Ching ; Cai, Hui ; Lu, Wei ; Signorello, Lisa B. ; Cai, Qiuyin ; Noh, Dong Young ; Yoo, Keun Young ; Miao, Hui ; Iau, Philip Tsau Choong ; Teo, Yik Ying ; McKay, James ; Shapiro, Charles ; Ademuyiwa, Foluso ; Fountzilas, George ; Hsiung, Chia Ni ; Yu, Jyh Cherng ; Hou, Ming Feng ; Healey, Catherine S. ; Luccarini, Craig ; Peock, Susan ; Stoppa-Lyonnet, Dominique ; Peterlongo, Paolo ; Rebbeck, Timothy R. ; Piedmonte, Marion ; Singer, Christian F. ; Friedman, Eitan ; Thomassen, Mads ; Offit, Kenneth ; Hansen, Thomas V O ; Neuhausen, Susan L. ; Szabo, Csilla I. ; Blanco, Ignacio ; Garber, Judy ; Narod, Steven A. ; Weitzel, Jeffrey N. ; Montagna, Marco ; Olah, Edith ; Godwin, Andrew K. ; Yannoukakos, Drakoulis ; Goldgar, David E. ; Caldes, Trinidad ; Imyanitov, Evgeny N. ; Tihomirova, Laima ; Arun, Banu K. ; Campbell, Ian ; Mensenkamp, Arjen R. ; Van Asperen, Christi J. ; Van Roozendaal, Kees E P ; Meijers-Heijboer, Hanne ; Collée, J. Margriet ; Oosterwijk, Jan C. ; Hooning, Maartje J. ; Rookus, Matti A. ; Van Der Luijt, Rob B. ; Os, Theo A Mvan ; Evans, D. Gareth ; Frost, Debra ; Fineberg, Elena ; Barwell, Julian ; Walker, Lisa ; Kennedy, M. John ; Platte, Radka ; Davidson, Rosemarie ; Ellis, Steve D. ; Cole, Trevor ; Bressac-De Paillerets, Brigitte ; Buecher, Bruno ; Damiola, Francesca ; Faivre, Laurence ; Frenay, Marc ; Sinilnikova, Olga M. ; Caron, Olivier ; Giraud, Sophie ; Mazoyer, Sylvie ; Bonadona, Valérie ; Caux-Moncoutier, Virginie ; Toloczko-Grabarek, Aleksandra ; Gronwald, Jacek ; Byrski, Tomasz ; Spurdle, Amanda B. ; Bonanni, Bernardo ; Zaffaroni, Daniela ; Giannini, Giuseppe ; Bernard, Loris ; Dolcetti, Riccardo ; Manoukian, Siranoush ; Arnold, Norbert ; Engel, Christoph ; Deissler, Helmut ; Rhiem, Kerstin ; Niederacher, Dieter ; Plendl, Hansjoerg ; Sutter, Christian ; Wappenschmidt, Barbara ; Borg, Åke ; Melin, Beatrice ; Rantala, Johanna ; Soller, Maria ; Nathanson, Katherine L. ; Domchek, Susan M. ; Rodriguez, Gustavo C. ; Salani, Ritu ; Kaulich, Daphne Gschwantler ; Tea, Muy Kheng ; Paluch, Shani Shimon ; Laitman, Yael ; Skytte, Anne Bine ; Kruse, Torben A. ; Jensen, Uffe Birk ; Robson, Mark ; Gerdes, Anne Marie ; Ejlertsen, Bent ; Foretova, Lenka ; Savage, Sharon A. ; Lester, Jenny ; Soucy, Penny ; Kuchenbaecker, Karoline B. ; Olswold, Curtis ; Cunningham, Julie M. ; Slager, Susan ; Pankratz, Vernon S. ; Dicks, Ed ; Lakhani, Sunil R. ; Couch, Fergus J. ; Hall, Per ; Monteiro, Alvaro N A ; Gayther, Simon A. ; Pharoah, Paul D P ; Reddel, Roger R. ; Goode, Ellen L. ; Greene, Mark H. ; Easton, Douglas F. ; Berchuck, Andrew ; Antoniou, Antonis C. ; Chenevix-Trench, Georgia ; Dunning, Alison M. / Multiple independent variants at the TERT locus are associated with telomere length and risks of breast and ovarian cancer. In: Nature Genetics. 2013 ; Vol. 45, No. 4. pp. 371-384.
@article{ecc3d081fb3e41029087aa8677a3955b,
title = "Multiple independent variants at the TERT locus are associated with telomere length and risks of breast and ovarian cancer",
abstract = "TERT-locus SNPs and leukocyte telomere measures are reportedly associated with risks of multiple cancers. Using the Illumina custom genotyping array iCOGs, we analyzed ∼480 SNPs at the TERT locus in breast (n = 103,991), ovarian (n = 39,774) and BRCA1 mutation carrier (n = 11,705) cancer cases and controls. Leukocyte telomere measurements were also available for 53,724 participants. Most associations cluster into three independent peaks. The minor allele at the peak 1 SNP rs2736108 associates with longer telomeres (P = 5.8 × 10 -7), lower risks for estrogen receptor (ER)-negative (P = 1.0 × 10 -8) and BRCA1 mutation carrier (P = 1.1 × 10 -5) breast cancers and altered promoter assay signal. The minor allele at the peak 2 SNP rs7705526 associates with longer telomeres (P = 2.3 × 10 -14), higher risk of low-malignant-potential ovarian cancer (P = 1.3 × 10 -15) and greater promoter activity. The minor alleles at the peak 3 SNPs rs10069690 and rs2242652 increase ER-negative (P = 1.2 × 10 -12) and BRCA1 mutation carrier (P = 1.6 × 10 -14) breast and invasive ovarian (P = 1.3 × 10 -11) cancer risks but not via altered telomere length. The cancer risk alleles of rs2242652 and rs10069690, respectively, increase silencing and generate a truncated TERT splice variant.",
author = "Bojesen, {Stig E.} and Pooley, {Karen A.} and Johnatty, {Sharon E.} and Jonathan Beesley and Kyriaki Michailidou and Tyrer, {Jonathan P.} and Edwards, {Stacey L.} and Pickett, {Hilda A.} and Shen, {Howard C.} and Smart, {Chanel E.} and Hillman, {Kristine M.} and Mai, {Phuong L.} and Kate Lawrenson and Stutz, {Michael D.} and Yi Lu and Rod Karevan and Nicholas Woods and Johnston, {Rebecca L.} and French, {Juliet D.} and Xiaoqing Chen and Maren Weischer and Nielsen, {Sune F.} and Maranian, {Melanie J.} and Maya Ghoussaini and Shahana Ahmed and Caroline Baynes and Bolla, {Manjeet K.} and Qin Wang and Joe Dennis and Lesley McGuffog and Daniel Barrowdale and Andrew Lee and Sue Healey and Michael Lush and Tessier, {Daniel C.} and Daniel Vincent and Fran{\cc}is Bacot and Ignace Vergote and Sandrina Lambrechts and Evelyn Despierre and Risch, {Harvey A.} and Anna Gonz{\'a}lez-Neira and Rossing, {Mary Anne} and Guillermo Pita and Doherty, {Jennifer A.} and Nuria {\'A}lvarez and Larson, {Melissa C.} and Fridley, {Brooke L.} and Nils Schoof and Jenny Chang-Claude and Cicek, {Mine S.} and Julian Peto and Kalli, {Kimberly R.} and Annegien Broeks and Armasu, {Sebastian M.} and Schmidt, {Marjanka K.} and Braaf, {Linde M.} and Boris Winterhoff and Heli Nevanlinna and Konecny, {Gottfried E.} and Diether Lambrechts and Lisa Rogmann and Pascal Gu{\'e}nel and Attila Teoman and Milne, {Roger L.} and Garcia, {Joaquin J.} and Angela Cox and Vijayalakshmi Shridhar and Barbara Burwinkel and Frederik Marme and Rebecca Hein and Sawyer, {Elinor J.} and Haiman, {Christopher A.} and Shan Wang-Gohrke and Andrulis, {Irene L.} and Moysich, {Kirsten B.} and Hopper, {John L.} and Kunle Odunsi and Annika Lindblom and Giles, {Graham G.} and Hermann Brenner and Jacques Simard and Galina Lurie and Fasching, {Peter A.} and Carney, {Michael E.} and Paolo Radice and Wilkens, {Lynne R.} and Anthony Swerdlow and Goodman, {Marc T.} and Hiltrud Brauch and Montserrat Garcia-Closas and Peter Hillemanns and Robert Winqvist and Matthias D{\"u}rst and Peter Devilee and Ingo Runnebaum and Anna Jakubowska and Jan Lubinski and Arto Mannermaa and Ralf Butzow and Bogdanova, {Natalia V.} and Thilo D{\"o}rk and Pelttari, {Liisa M.} and Wei Zheng and Arto Leminen and Hoda Anton-Culver and Bunker, {Clareann H.} and Vessela Kristensen and Ness, {Roberta B.} and Kenneth Muir and Robert Edwards and Alfons Meindl and Florian Heitz and Keitaro Matsuo and {Du Bois}, Andreas and Wu, {Anna H.} and Philipp Harter and Teo, {Soo Hwang} and Ira Schwaab and Shu, {Xiao Ou} and William Blot and Satoyo Hosono and Daehee Kang and Toru Nakanishi and Mikael Hartman and Yasushi Yatabe and Ute Hamann and Karlan, {Beth Y.} and Suleeporn Sangrajrang and Kjaer, {Susanne Kr{\"u}ger} and Valerie Gaborieau and Allan Jensen and Diana Eccles and Estrid H{\o}gdall and Shen, {Chen Yang} and Judith Brown and Woo, {Yin Ling} and Mitul Shah and Azmi, {Mat Adenan Noor} and Robert Luben and Omar, {Siti Zawiah} and Kamila Czene and Vierkant, {Robert A.} and Nordestgaard, {B{\o}rge G.} and Henrik Flyger and Celine Vachon and Olson, {Janet E.} and Xianshu Wang and Levine, {Douglas A.} and Anja Rudolph and Weber, {Rachel Palmieri} and Dieter Flesch-Janys and Edwin Iversen and Stefan Nickels and Schildkraut, {Joellen M.} and Silva, {Isabel Dos Santos} and Cramer, {Daniel W.} and Lorna Gibson and Terry, {Kathryn L.} and Olivia Fletcher and Vitonis, {Allison F.} and {Van Der Schoot}, {C. Ellen} and Poole, {Elizabeth M.} and Hogervorst, {Frans B L} and Tworoger, {Shelley S.} and Jianjun Liu and Bandera, {Elisa V.} and Jingmei Li and Olson, {Sara H.} and Keith Humphreys and Irene Orlow and Carl Blomqvist and Lorna Rodriguez-Rodriguez and Kristiina Aittom{\"a}ki and Salvesen, {Helga B.} and Muranen, {Taru A.} and Elisabeth Wik and Barbara Brouwers and Camilla Krakstad and Els Wauters and Halle, {Mari K.} and Hans Wildiers and Kiemeney, {Lambertus A.} and Claire Mulot and Aben, {Katja K.} and Pierre Laurent-Puig and Altena, {Anne Mvan} and Th{\'e}r{\`e}se Truong and Massuger, {Leon F A G} and Javier Benitez and Tanja Pejovic and Perez, {Jose Ignacio Arias} and Maureen Hoatlin and Zamora, {M. Pilar} and Cook, {Linda S.} and Balasubramanian, {Sabapathy P.} and Kelemen, {Linda E.} and Andreas Schneeweiss and Le, {Nhu D.} and Christof Sohn and Angela Brooks-Wilson and Ian Tomlinson and Kerin, {Michael J.} and Nicola Miller and Cezary Cybulski and Henderson, {Brian E.} and Janusz Menkiszak and Fredrick Schumacher and Nicolas Wentzensen and {Le Marchand}, Loic and Yang, {Hannah P.} and Mulligan, {Anna Marie} and Gord Glendon and Engelholm, {Svend Aage} and Knight, {Julia A.} and H{\o}gdall, {Claus K.} and Carmel Apicella and Martin Gore and Helen Tsimiklis and Honglin Song and Southey, {Melissa C.} and Agnes Jager and {Den Ouweland}, {Ans M Wvan} and Robert Brown and Martens, {John W M} and Flanagan, {James M.} and Mieke Kriege and James Paul and Sara Margolin and Nadeem Siddiqui and Gianluca Severi and Whittemore, {Alice S.} and Laura Baglietto and Valerie McGuire and Christa Stegmaier and Weiva Sieh and Heiko M{\"u}ller and Volker Arndt and France Labr{\`e}che and Gao, {Yu Tang} and Goldberg, {Mark S.} and Gong Yang and Martine Dumont and McLaughlin, {John R.} and Arndt Hartmann and Ekici, {Arif B.} and Beckmann, {Matthias W.} and Phelan, {Catherine M.} and Lux, {Michael P.} and Jenny Permuth-Wey and Bernard Peissel and Sellers, {Thomas A.} and Filomena Ficarazzi and Monica Barile and Argyrios Ziogas and Alan Ashworth and Aleksandra Gentry-Maharaj and Michael Jones and Ramus, {Susan J.} and Nick Orr and Usha Menon and Pearce, {Celeste L.} and Thomas Br{\"u}ning and Pike, {Malcolm C.} and Ko, {Yon Dschun} and Jolanta Lissowska and Jonine Figueroa and Jolanta Kupryjanczyk and Chanock, {Stephen J.} and Agnieszka Dansonka-Mieszkowska and Arja Jukkola-Vuorinen and Rzepecka, {Iwona K.} and Katri Pylk{\"a}s and Mariusz Bidzinski and Saila Kauppila and Antoinette Hollestelle and Caroline Seynaeve and Tollenaar, {Rob A E M} and Katarzyna Durda and Katarzyna Jaworska and Hartikainen, {Jaana M.} and Kosma, {Veli Matti} and Vesa Kataja and Antonenkova, {Natalia N.} and Jirong Long and Martha Shrubsole and Sandra Deming-Halverson and Artitaya Lophatananon and Pornthep Siriwanarangsan and Sarah Stewart-Brown and Nina Ditsch and Peter Lichtner and Schmutzler, {Rita K.} and Hidemi Ito and Hiroji Iwata and Kazuo Tajima and Tseng, {Chiu Chen} and Stram, {Daniel O.} and {Van Den Berg}, David and Yip, {Cheng Har} and Ikram, {M. Kamran} and Teh, {Yew Ching} and Hui Cai and Wei Lu and Signorello, {Lisa B.} and Qiuyin Cai and Noh, {Dong Young} and Yoo, {Keun Young} and Hui Miao and Iau, {Philip Tsau Choong} and Teo, {Yik Ying} and James McKay and Charles Shapiro and Foluso Ademuyiwa and George Fountzilas and Hsiung, {Chia Ni} and Yu, {Jyh Cherng} and Hou, {Ming Feng} and Healey, {Catherine S.} and Craig Luccarini and Susan Peock and Dominique Stoppa-Lyonnet and Paolo Peterlongo and Rebbeck, {Timothy R.} and Marion Piedmonte and Singer, {Christian F.} and Eitan Friedman and Mads Thomassen and Kenneth Offit and Hansen, {Thomas V O} and Neuhausen, {Susan L.} and Szabo, {Csilla I.} and Ignacio Blanco and Judy Garber and Narod, {Steven A.} and Weitzel, {Jeffrey N.} and Marco Montagna and Edith Olah and Godwin, {Andrew K.} and Drakoulis Yannoukakos and Goldgar, {David E.} and Trinidad Caldes and Imyanitov, {Evgeny N.} and Laima Tihomirova and Arun, {Banu K.} and Ian Campbell and Mensenkamp, {Arjen R.} and {Van Asperen}, {Christi J.} and {Van Roozendaal}, {Kees E P} and Hanne Meijers-Heijboer and Coll{\'e}e, {J. Margriet} and Oosterwijk, {Jan C.} and Hooning, {Maartje J.} and Rookus, {Matti A.} and {Van Der Luijt}, {Rob B.} and Os, {Theo A Mvan} and Evans, {D. Gareth} and Debra Frost and Elena Fineberg and Julian Barwell and Lisa Walker and Kennedy, {M. John} and Radka Platte and Rosemarie Davidson and Ellis, {Steve D.} and Trevor Cole and {Bressac-De Paillerets}, Brigitte and Bruno Buecher and Francesca Damiola and Laurence Faivre and Marc Frenay and Sinilnikova, {Olga M.} and Olivier Caron and Sophie Giraud and Sylvie Mazoyer and Val{\'e}rie Bonadona and Virginie Caux-Moncoutier and Aleksandra Toloczko-Grabarek and Jacek Gronwald and Tomasz Byrski and Spurdle, {Amanda B.} and Bernardo Bonanni and Daniela Zaffaroni and Giuseppe Giannini and Loris Bernard and Riccardo Dolcetti and Siranoush Manoukian and Norbert Arnold and Christoph Engel and Helmut Deissler and Kerstin Rhiem and Dieter Niederacher and Hansjoerg Plendl and Christian Sutter and Barbara Wappenschmidt and {\AA}ke Borg and Beatrice Melin and Johanna Rantala and Maria Soller and Nathanson, {Katherine L.} and Domchek, {Susan M.} and Rodriguez, {Gustavo C.} and Ritu Salani and Kaulich, {Daphne Gschwantler} and Tea, {Muy Kheng} and Paluch, {Shani Shimon} and Yael Laitman and Skytte, {Anne Bine} and Kruse, {Torben A.} and Jensen, {Uffe Birk} and Mark Robson and Gerdes, {Anne Marie} and Bent Ejlertsen and Lenka Foretova and Savage, {Sharon A.} and Jenny Lester and Penny Soucy and Kuchenbaecker, {Karoline B.} and Curtis Olswold and Cunningham, {Julie M.} and Susan Slager and Pankratz, {Vernon S.} and Ed Dicks and Lakhani, {Sunil R.} and Couch, {Fergus J.} and Per Hall and Monteiro, {Alvaro N A} and Gayther, {Simon A.} and Pharoah, {Paul D P} and Reddel, {Roger R.} and Goode, {Ellen L.} and Greene, {Mark H.} and Easton, {Douglas F.} and Andrew Berchuck and Antoniou, {Antonis C.} and Georgia Chenevix-Trench and Dunning, {Alison M.}",
year = "2013",
month = "4",
doi = "10.1038/ng.2566",
language = "English (US)",
volume = "45",
pages = "371--384",
journal = "Nature Genetics",
issn = "1061-4036",
publisher = "Nature Publishing Group",
number = "4",

}

TY - JOUR

T1 - Multiple independent variants at the TERT locus are associated with telomere length and risks of breast and ovarian cancer

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AU - Giraud, Sophie

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AU - Bonadona, Valérie

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AU - Manoukian, Siranoush

AU - Arnold, Norbert

AU - Engel, Christoph

AU - Deissler, Helmut

AU - Rhiem, Kerstin

AU - Niederacher, Dieter

AU - Plendl, Hansjoerg

AU - Sutter, Christian

AU - Wappenschmidt, Barbara

AU - Borg, Åke

AU - Melin, Beatrice

AU - Rantala, Johanna

AU - Soller, Maria

AU - Nathanson, Katherine L.

AU - Domchek, Susan M.

AU - Rodriguez, Gustavo C.

AU - Salani, Ritu

AU - Kaulich, Daphne Gschwantler

AU - Tea, Muy Kheng

AU - Paluch, Shani Shimon

AU - Laitman, Yael

AU - Skytte, Anne Bine

AU - Kruse, Torben A.

AU - Jensen, Uffe Birk

AU - Robson, Mark

AU - Gerdes, Anne Marie

AU - Ejlertsen, Bent

AU - Foretova, Lenka

AU - Savage, Sharon A.

AU - Lester, Jenny

AU - Soucy, Penny

AU - Kuchenbaecker, Karoline B.

AU - Olswold, Curtis

AU - Cunningham, Julie M.

AU - Slager, Susan

AU - Pankratz, Vernon S.

AU - Dicks, Ed

AU - Lakhani, Sunil R.

AU - Couch, Fergus J.

AU - Hall, Per

AU - Monteiro, Alvaro N A

AU - Gayther, Simon A.

AU - Pharoah, Paul D P

AU - Reddel, Roger R.

AU - Goode, Ellen L.

AU - Greene, Mark H.

AU - Easton, Douglas F.

AU - Berchuck, Andrew

AU - Antoniou, Antonis C.

AU - Chenevix-Trench, Georgia

AU - Dunning, Alison M.

PY - 2013/4

Y1 - 2013/4

N2 - TERT-locus SNPs and leukocyte telomere measures are reportedly associated with risks of multiple cancers. Using the Illumina custom genotyping array iCOGs, we analyzed ∼480 SNPs at the TERT locus in breast (n = 103,991), ovarian (n = 39,774) and BRCA1 mutation carrier (n = 11,705) cancer cases and controls. Leukocyte telomere measurements were also available for 53,724 participants. Most associations cluster into three independent peaks. The minor allele at the peak 1 SNP rs2736108 associates with longer telomeres (P = 5.8 × 10 -7), lower risks for estrogen receptor (ER)-negative (P = 1.0 × 10 -8) and BRCA1 mutation carrier (P = 1.1 × 10 -5) breast cancers and altered promoter assay signal. The minor allele at the peak 2 SNP rs7705526 associates with longer telomeres (P = 2.3 × 10 -14), higher risk of low-malignant-potential ovarian cancer (P = 1.3 × 10 -15) and greater promoter activity. The minor alleles at the peak 3 SNPs rs10069690 and rs2242652 increase ER-negative (P = 1.2 × 10 -12) and BRCA1 mutation carrier (P = 1.6 × 10 -14) breast and invasive ovarian (P = 1.3 × 10 -11) cancer risks but not via altered telomere length. The cancer risk alleles of rs2242652 and rs10069690, respectively, increase silencing and generate a truncated TERT splice variant.

AB - TERT-locus SNPs and leukocyte telomere measures are reportedly associated with risks of multiple cancers. Using the Illumina custom genotyping array iCOGs, we analyzed ∼480 SNPs at the TERT locus in breast (n = 103,991), ovarian (n = 39,774) and BRCA1 mutation carrier (n = 11,705) cancer cases and controls. Leukocyte telomere measurements were also available for 53,724 participants. Most associations cluster into three independent peaks. The minor allele at the peak 1 SNP rs2736108 associates with longer telomeres (P = 5.8 × 10 -7), lower risks for estrogen receptor (ER)-negative (P = 1.0 × 10 -8) and BRCA1 mutation carrier (P = 1.1 × 10 -5) breast cancers and altered promoter assay signal. The minor allele at the peak 2 SNP rs7705526 associates with longer telomeres (P = 2.3 × 10 -14), higher risk of low-malignant-potential ovarian cancer (P = 1.3 × 10 -15) and greater promoter activity. The minor alleles at the peak 3 SNPs rs10069690 and rs2242652 increase ER-negative (P = 1.2 × 10 -12) and BRCA1 mutation carrier (P = 1.6 × 10 -14) breast and invasive ovarian (P = 1.3 × 10 -11) cancer risks but not via altered telomere length. The cancer risk alleles of rs2242652 and rs10069690, respectively, increase silencing and generate a truncated TERT splice variant.

UR - http://www.scopus.com/inward/record.url?scp=84875717832&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=84875717832&partnerID=8YFLogxK

U2 - 10.1038/ng.2566

DO - 10.1038/ng.2566

M3 - Article

VL - 45

SP - 371

EP - 384

JO - Nature Genetics

JF - Nature Genetics

SN - 1061-4036

IS - 4

ER -