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, Francis, Vergote, Ignace, Lambrechts, Sandrina, Despierre, Evelyn, Risch, Harvey A., Gonzalez-Neira, Anna, Rossing, Mary Anne, Pita, Guillermo, Doherty, Jennifer A., Alvarez, 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, Guenel, 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, Durst, Matthias, Devilee, Peter, Runnebaum, Ingo, Jakubowska, Anna, Lubinski, Jan, Mannermaa, Arto, Butzow, Ralf, Bogdanova, Natalia V., Doerk, 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 Kruger, Gaborieau, Valerie, Jensen, Allan, Eccles, Diana, Hogdall, 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, Borge 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, Row, Irene, Blomqvist, Carl, Rodriguez-Rodriguez, Lorna, Aittomaki, 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, Therese Truong, Massuger, Leon F. A. G., Benitez, Javier, Pejovic, Tanja, Arias Perez, Jose Ignacio, 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, Marchand, Loic Le, Yang, Hannah P., Mulligan, Anna Marie, Glendon, Gord, Engelholm, Svend Aage, Knight, Julia A., Hogdall, 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, Mueller, Heiko, Arndt, Volker, Labreche, 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., Bruening, 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., Pylkas, 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, Ikrarn, 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 Roozendaa, Kees E. P., Meijers-Heijboer, Hanne, Collee, 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, Valerie, 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, Pendl, Hansjoerg, Sutter, Christian, Wappenschmidt, Barbara, Borg, Ake, Mein, 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., Lesterm, 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., Australian Cancer Study, Australian Ovarian Cancer Study, Kathleen Cuningham Foundation Consortium for Research into Familial Breast Cancer (kConFab), Gene Environment Interaction and Breast Cancer (GENICA), Swedish Breast Cancer Study (SWE-BRCA), The Hereditary Breast and Ovarian Cancer Research Group Netherlands (HEBON), Epidemiological study of BRCA1 & BRCA2 Mutation Carriers (EMBRACE) and Genetic Modifiers of Cancer Risk in BRCA1/2 Mutation Carriers (GEMO) (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. doi:10.1038/ng.2566

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Author 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, Francis
Vergote, Ignace
Lambrechts, Sandrina
Despierre, Evelyn
Risch, Harvey A.
Gonzalez-Neira, Anna
Rossing, Mary Anne
Pita, Guillermo
Doherty, Jennifer A.
Alvarez, 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
Guenel, 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
Durst, Matthias
Devilee, Peter
Runnebaum, Ingo
Jakubowska, Anna
Lubinski, Jan
Mannermaa, Arto
Butzow, Ralf
Bogdanova, Natalia V.
Doerk, 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 Kruger
Gaborieau, Valerie
Jensen, Allan
Eccles, Diana
Hogdall, 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, Borge 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
Row, Irene
Blomqvist, Carl
Rodriguez-Rodriguez, Lorna
Aittomaki, 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
Therese Truong
Massuger, Leon F. A. G.
Benitez, Javier
Pejovic, Tanja
Arias Perez, Jose Ignacio
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
Marchand, Loic Le
Yang, Hannah P.
Mulligan, Anna Marie
Glendon, Gord
Engelholm, Svend Aage
Knight, Julia A.
Hogdall, 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
Mueller, Heiko
Arndt, Volker
Labreche, 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.
Bruening, 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.
Pylkas, 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
Ikrarn, 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 Roozendaa, Kees E. P.
Meijers-Heijboer, Hanne
Collee, 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, Valerie
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
Pendl, Hansjoerg
Sutter, Christian
Wappenschmidt, Barbara
Borg, Ake
Mein, 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.
Lesterm, 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.
Australian Cancer Study
Australian Ovarian Cancer Study
Kathleen Cuningham Foundation Consortium for Research into Familial Breast Cancer (kConFab)
Gene Environment Interaction and Breast Cancer (GENICA)
Swedish Breast Cancer Study (SWE-BRCA)
The Hereditary Breast and Ovarian Cancer Research Group Netherlands (HEBON)
Epidemiological study of BRCA1 & BRCA2 Mutation Carriers (EMBRACE)
Genetic Modifiers of Cancer Risk in BRCA1/2 Mutation Carriers (GEMO)
Total Author Count Override 445
Title Multiple independent variants at the TERT locus are associated with telomere length and risks of breast and ovarian cancer
Formatted title
Multiple independent variants at the TERT locus are associated with telomere length and risks of breast and ovarian cancer
Journal name Nature Genetics   Check publisher's open access policy
ISSN 1061-4036
1546-1718
Publication date 2013-04
Sub-type Article (original research)
DOI 10.1038/ng.2566
Volume 45
Issue 4
Start page 371
End page 384
Total pages 14
Place of publication United States
Publisher Nature Publishing Group
Collection year 2014
Language eng
Formatted 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.
Keyword Genome-wide association
Reverse-transcriptase hTERT
Susceptibility loci
TERT-CLPTM1L locus
Genetic-variation
Common variants
Buccal Cells
Fibroblasts
Carcinoma
Metaanalysis
Q-Index Code C1
Q-Index Status Confirmed Code
Institutional Status UQ

 
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