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6. Breast Cancer

Author

Labrèche, France, Goldberg, Mark S., Hashim, Dana, Weiderpass, Elisabete, Anttila, Sisko, editor, and Boffetta, Paolo, editor

Published
2020
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10. Excess risk of Covid-19 infection and mental distress in healthcare workers during successive pandemic waves. Analysis of matched cohorts of healthcare workers and community referents in Alberta, Canada

Author

Galarneau, Jean-Michel, primary, Labreche, France, additional, Durand-Moreau, Quentin, additional, Ruzycki, Shannon, additional, Adisesh, Anil, additional, Burstyn, Igor, additional, Zadunayski, Tanis, additional, and Cherry, Nicola, additional

Published
2023
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15. Breast Cancer

Author

Labrèche, France, Goldberg, Mark S., Weiderpass, Elisabete, Anttila, Sisko, editor, and Boffetta, Paolo, editor

Published
2014
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21. Postmenopausal breast cancer and occupational exposures

Author

Labreche, France, Goldberg, Mark S., Valois, Marie-France, and Nadon, Louise

Subjects
Breast cancer -- Risk factors, Breast cancer -- Demographic aspects, Breast cancer -- Research, Occupational health and safety -- Health aspects, Occupational health and safety -- Research, Health
Published
2010

24. Genome-wide association analysis of more than 120,000 individuals identifies 15 new susceptibility loci for breast cancer

Author

Michailidou, Kyriaki, Beesley, Jonathan, Lindstrom, Sara, Canisius, Sander, Dennis, Joe, Lush, Michael J., Maranian, Mel J., Bolla, Manjeet K., Wang, Qin, Shah, Mitul, Perkins, Barbara J., Czene, Kamila, Eriksson, Mikael, Darabi, Hatef, Brand, Judith S., Bojesen, Stig E., Nordestgaard, Borge G., Flyger, Henrik, Nielsen, Sune F., Rahman, Nazneen, Turnbull, Clare, Fletcher, Olivia, Peto, Julian, Gibson, Lorna, dos-Santos-Silva, Isabel, Chang-Claude, Jenny, Flesch-Janys, Dieter, Rudolph, Anja, Eilber, Ursula, Behrens, Sabine, Nevanlinna, Heli, Muranen, Taru A., Aittomaki, Kristiina, Blomqvist, Carl, Khan, Sofia, Aaltonen, Kirsimari, Ahsan, Habibul, Kibriya, Muhammad G., Whittemore, Alice S., John, Esther M., Malone, Kathleen E., Gammon, Marilie D., Santella, Regina M., Ursin, Giske, Makalic, Enes, Schmidt, Daniel F., Casey, Graham, Hunter, David J., Gapstur, Susan M., Gaudet, Mia M., Diver, W. Ryan, Haiman, Christopher A., Schumacher, Fredrick, Henderson, Brian E., Le Marchand, Loic, Berg, Christine D., Chanock, Stephen J., Figueroa, Jonine, Hoover, Robert N., Lambrechts, Diether, Neven, Patrick, Wildiers, Hans, van Limbergen, Erik, Schmidt, Marjanka K., Broeks, Annegien, Verhoef, Senno, Cornelissen, Sten, Couch, Fergus J., Olson, Janet E., Hallberg, Emily, Vachon, Celine, Waisfisz, Quinten, Meijers-Heijboer, Hanne, Adank, Muriel A., van der Luijt, Rob B., Li, Jingmei, Liu, Jianjun, Humphreys, Keith, Kang, Daehee, Choi, Ji-Yeob, Park, Sue K., Yoo, Keun-Young, Matsuo, Keitaro, Ito, Hidemi, Iwata, Hiroji, Tajima, Kazuo, Guenel, Pascal, Truong, Therese, Mulot, Claire, Sanchez, Marie, Burwinkel, Barbara, Marme, Frederik, Surowy, Harald, Sohn, Christof, Wu, Anna H., Tseng, Chiu-chen, Van den Berg, David, Stram, Daniel O., Gonzalez-Neira, Anna, Benitez, Javier, Zamora, M. Pilar, Arias Perez, Jose Ignacio, Shu, Xiao-Ou, Lu, Wei, Gao, Yu-Tang, Cai, Hui, Cox, Angela, Cross, Simon S., Reed, Malcolm W. R., Andrulis, Irene L., Knight, Julia A., Glendon, Gord, Mulligan, Anna Marie, Sawyer, Elinor J., Tomlinson, Ian, Kerin, Michael J., Miller, Nicola, Lindblom, Annika, Margolin, Sara, Teo, Soo Hwang, Yip, Cheng Har, Taib, Nur Aishah Mohd, Tan, Gie-Hooi, Hooning, Maartje J., Hollestelle, Antoinette, Martens, John W. M., Collee, J. Margriet, Blot, William, Signorello, Lisa B., Cai, Qiuyin, Hopper, John L., Southey, Melissa C., Tsimiklis, Helen, Apicella, Carmel, Shen, Chen-Yang, Hsiung, Chia-Ni, Wu, Pei-Ei, Hou, Ming-Feng, Kristensen, Vessela N., Nord, Silje, Alnaes, Grethe I. Grenaker, Giles, Graham G., Milne, Roger L., McLean, Catriona, Canzian, Federico, Trichopoulos, Dimitrios, Peeters, Petra, Lund, Eiliv, Sund, Malin, Khaw, Kay-Tee, Gunter, Marc J., Palli, Domenico, Mortensen, Lotte Maxild, Dossus, Laure, Huerta, Jose-Maria, Meindl, Alfons, Schmutzler, Rita K., Sutter, Christian, Yang, Rongxi, Muir, Kenneth, Lophatananon, Artitaya, Stewart-Brown, Sarah, Siriwanarangsan, Pornthep, Hartman, Mikael, Miao, Hui, Chia, Kee Seng, Chan, Ching Wan, Fasching, Peter A., Hein, Alexander, Beckmann, Matthias W., Haeberle, Lothar, Brenner, Hermann, Dieffenbach, Aida Karina, Arndt, Volker, Stegmaier, Christa, Ashworth, Alan, Orr, Nick, Schoemaker, Minouk J., Swerdlow, Anthony J., Brinton, Louise, Garcia-Closas, Montserrat, Zheng, Wei, Halverson, Sandra L., Shrubsole, Martha, Long, Jirong, Goldberg, Mark S., Labreche, France, Dumont, Martine, Winqvist, Robert, Pylkas, Katri, Jukkola-Vuorinen, Arja, Grip, Mervi, Brauch, Hiltrud, Hamann, Ute, Bruening, Thomas, Radice, Paolo, Peterlongo, Paolo, Manoukian, Siranoush, Bernard, Loris, Bogdanova, Natalia V., Doerk, Thilo, Mannermaa, Arto, Kataja, Vesa, Kosma, Veli-Matti, Hartikainen, Jaana M., Devilee, Peter, Tollenaar, Robert A. E. M., Seynaeve, Caroline, Van Asperen, Christi J., Jakubowska, Anna, Lubinski, Jan, Jaworska, Katarzyna, Huzarski, Tomasz, Sangrajrang, Suleeporn, Gaborieau, Valerie, Brennan, Paul, Mckay, James, Slager, Susan, Toland, Amanda E., Ambrosone, Christine B., Yannoukakos, Drakoulis, Kabisch, Maria, Torres, Diana, Neuhausen, Susan L., Anton-Culver, Hoda, Luccarini, Craig, Baynes, Caroline, Ahmed, Shahana, Healey, Catherine S., Tessier, Daniel C., Vincent, Daniel, Bacot, Francois, Pita, Guillermo, Rosario Alonso, M., Alvarez, Nuria, Herrero, Daniel, Simard, Jacques, Pharoah, Paul P. D. P., Kraft, Peter, Dunning, Alison M., Chenevix-Trench, Georgia, Hall, Per, Easton, Douglas F., Michailidou, Kyriaki, Beesley, Jonathan, Lindstrom, Sara, Canisius, Sander, Dennis, Joe, Lush, Michael J., Maranian, Mel J., Bolla, Manjeet K., Wang, Qin, Shah, Mitul, Perkins, Barbara J., Czene, Kamila, Eriksson, Mikael, Darabi, Hatef, Brand, Judith S., Bojesen, Stig E., Nordestgaard, Borge G., Flyger, Henrik, Nielsen, Sune F., Rahman, Nazneen, Turnbull, Clare, Fletcher, Olivia, Peto, Julian, Gibson, Lorna, dos-Santos-Silva, Isabel, Chang-Claude, Jenny, Flesch-Janys, Dieter, Rudolph, Anja, Eilber, Ursula, Behrens, Sabine, Nevanlinna, Heli, Muranen, Taru A., Aittomaki, Kristiina, Blomqvist, Carl, Khan, Sofia, Aaltonen, Kirsimari, Ahsan, Habibul, Kibriya, Muhammad G., Whittemore, Alice S., John, Esther M., Malone, Kathleen E., Gammon, Marilie D., Santella, Regina M., Ursin, Giske, Makalic, Enes, Schmidt, Daniel F., Casey, Graham, Hunter, David J., Gapstur, Susan M., Gaudet, Mia M., Diver, W. Ryan, Haiman, Christopher A., Schumacher, Fredrick, Henderson, Brian E., Le Marchand, Loic, Berg, Christine D., Chanock, Stephen J., Figueroa, Jonine, Hoover, Robert N., Lambrechts, Diether, Neven, Patrick, Wildiers, Hans, van Limbergen, Erik, Schmidt, Marjanka K., Broeks, Annegien, Verhoef, Senno, Cornelissen, Sten, Couch, Fergus J., Olson, Janet E., Hallberg, Emily, Vachon, Celine, Waisfisz, Quinten, Meijers-Heijboer, Hanne, Adank, Muriel A., van der Luijt, Rob B., Li, Jingmei, Liu, Jianjun, Humphreys, Keith, Kang, Daehee, Choi, Ji-Yeob, Park, Sue K., Yoo, Keun-Young, Matsuo, Keitaro, Ito, Hidemi, Iwata, Hiroji, Tajima, Kazuo, Guenel, Pascal, Truong, Therese, Mulot, Claire, Sanchez, Marie, Burwinkel, Barbara, Marme, Frederik, Surowy, Harald, Sohn, Christof, Wu, Anna H., Tseng, Chiu-chen, Van den Berg, David, Stram, Daniel O., Gonzalez-Neira, Anna, Benitez, Javier, Zamora, M. Pilar, Arias Perez, Jose Ignacio, Shu, Xiao-Ou, Lu, Wei, Gao, Yu-Tang, Cai, Hui, Cox, Angela, Cross, Simon S., Reed, Malcolm W. R., Andrulis, Irene L., Knight, Julia A., Glendon, Gord, Mulligan, Anna Marie, Sawyer, Elinor J., Tomlinson, Ian, Kerin, Michael J., Miller, Nicola, Lindblom, Annika, Margolin, Sara, Teo, Soo Hwang, Yip, Cheng Har, Taib, Nur Aishah Mohd, Tan, Gie-Hooi, Hooning, Maartje J., Hollestelle, Antoinette, Martens, John W. M., Collee, J. Margriet, Blot, William, Signorello, Lisa B., Cai, Qiuyin, Hopper, John L., Southey, Melissa C., Tsimiklis, Helen, Apicella, Carmel, Shen, Chen-Yang, Hsiung, Chia-Ni, Wu, Pei-Ei, Hou, Ming-Feng, Kristensen, Vessela N., Nord, Silje, Alnaes, Grethe I. Grenaker, Giles, Graham G., Milne, Roger L., McLean, Catriona, Canzian, Federico, Trichopoulos, Dimitrios, Peeters, Petra, Lund, Eiliv, Sund, Malin, Khaw, Kay-Tee, Gunter, Marc J., Palli, Domenico, Mortensen, Lotte Maxild, Dossus, Laure, Huerta, Jose-Maria, Meindl, Alfons, Schmutzler, Rita K., Sutter, Christian, Yang, Rongxi, Muir, Kenneth, Lophatananon, Artitaya, Stewart-Brown, Sarah, Siriwanarangsan, Pornthep, Hartman, Mikael, Miao, Hui, Chia, Kee Seng, Chan, Ching Wan, Fasching, Peter A., Hein, Alexander, Beckmann, Matthias W., Haeberle, Lothar, Brenner, Hermann, Dieffenbach, Aida Karina, Arndt, Volker, Stegmaier, Christa, Ashworth, Alan, Orr, Nick, Schoemaker, Minouk J., Swerdlow, Anthony J., Brinton, Louise, Garcia-Closas, Montserrat, Zheng, Wei, Halverson, Sandra L., Shrubsole, Martha, Long, Jirong, Goldberg, Mark S., Labreche, France, Dumont, Martine, Winqvist, Robert, Pylkas, Katri, Jukkola-Vuorinen, Arja, Grip, Mervi, Brauch, Hiltrud, Hamann, Ute, Bruening, Thomas, Radice, Paolo, Peterlongo, Paolo, Manoukian, Siranoush, Bernard, Loris, Bogdanova, Natalia V., Doerk, Thilo, Mannermaa, Arto, Kataja, Vesa, Kosma, Veli-Matti, Hartikainen, Jaana M., Devilee, Peter, Tollenaar, Robert A. E. M., Seynaeve, Caroline, Van Asperen, Christi J., Jakubowska, Anna, Lubinski, Jan, Jaworska, Katarzyna, Huzarski, Tomasz, Sangrajrang, Suleeporn, Gaborieau, Valerie, Brennan, Paul, Mckay, James, Slager, Susan, Toland, Amanda E., Ambrosone, Christine B., Yannoukakos, Drakoulis, Kabisch, Maria, Torres, Diana, Neuhausen, Susan L., Anton-Culver, Hoda, Luccarini, Craig, Baynes, Caroline, Ahmed, Shahana, Healey, Catherine S., Tessier, Daniel C., Vincent, Daniel, Bacot, Francois, Pita, Guillermo, Rosario Alonso, M., Alvarez, Nuria, Herrero, Daniel, Simard, Jacques, Pharoah, Paul P. D. P., Kraft, Peter, Dunning, Alison M., Chenevix-Trench, Georgia, Hall, Per, and Easton, Douglas F.

Abstract

Genome-wide association studies (GWAS) and large-scale replication studies have identified common variants in 79 loci associated with breast cancer, explaining similar to 14% of the familial risk of the disease. To identify new susceptibility loci, we performed a meta-analysis of 11 GWAS, comprising 15,748 breast cancer cases and 18,084 controls together with 46,785 cases and 42,892 controls from 41 studies genotyped on a 211,155-marker custom array (iCOGS). Analyses were restricted to women of European ancestry. We generated genotypes for more than 11 million SNPs by imputation using the 1000 Genomes Project reference panel, and we identified 15 new loci associated with breast cancer at P < 5 x 10(-8). Combining association analysis with ChIP-seq chromatin binding data in mammary cell lines and ChIA-PET chromatin interaction data from ENCODE, we identified likely target genes in two regions: SETBP1 at 18q12.3 and RNF115 and PDZK1 at 1q21.1. One association appears to be driven by an amino acid substitution encoded in EXO1.

Published
2015
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25. Identification and characterization of novel associations in the CASP8/ALS2CR12 region on chromosome 2 with breast cancer risk

Author

Lin, Wei-Yu, Camp, Nicola J., Ghoussaini, Maya, Beesley, Jonathan, Michailidou, Kyriaki, Hopper, John L., Apicella, Carmel, Southey, Melissa C., Stone, Jennifer, Schmidt, Marjanka K., Broeks, Annegien, Van't Veer, Laura J., Rutgers, Emiel J. Th, Muir, Kenneth, Lophatananon, Artitaya, Stewart-Brown, Sarah, Siriwanarangsan, Pornthep, Fasching, Peter A., Haeberle, Lothar, Ekici, Arif B., Beckmann, Matthias W., Peto, Julian, Dos-Santos-Silva, Isabel, Fletcher, Olivia, Johnson, Nichola, Bolla, Manjeet K., Wang, Qin, Dennis, Joe, Sawyer, Elinor J., Cheng, Timothy, Tomlinson, Ian, Kerin, Michael J., Miller, Nicola, Marme, Frederik, Surowy, Harald M., Burwinkel, Barbara, Guenel, Pascal, Truong, Therese, Menegaux, Florence, Mulot, Claire, Bojesen, Stig E., Nordestgaard, Borge G., Nielsen, Sune F., Flyger, Henrik, Benitez, Javier, Zamora, M. Pilar, Arias Perez, Jose Ignacio, Menendez, Primitiva, Gonzalez-Neira, Anna, Pita, Guillermo, Rosario Alonso, M., Alvarez, Nuria, Herrera, Daniel, Anton-Culver, Hoda, Brenner, Hermann, Dieffenbach, Aida Karina, Arndt, Volker, Stegmaier, Christa, Meindl, Alfons, Lichtner, Peter, Schmutzler, Rita K., Mueller-Myhsok, Bertram, Brauch, Hiltrud, Bruening, Thomas, Ko, Yon-Dschun, Tessier, Daniel C., Vincent, Daniel, Bacot, Francois, Nevanlinna, Heli, Aittomaeki, Kristiina, Blomqvist, Carl, Khan, Sofia, Matsuo, Keitaro, Ito, Hidemi, Iwata, Hiroji, Horio, Akiyo, Bogdanova, Natalia V., Antonenkova, Natalia N., Doerk, Thilo, Lindblom, Annika, Margolin, Sara, Mannermaa, Arto, Kataja, Vesa, Kosma, Veli-Matti, Hartikainen, Jaana M., Wu, Anna H., Tseng, Chiu-Chen, Van den Berg, David, Stram, Daniel O., Neven, Patrick, Wauters, Els, Wildiers, Hans, Lambrechts, Diether, Chang-Claude, Jenny, Rudolph, Anja, Seibold, Petra, Flesch-Janys, Dieter, Radice, Paolo, Peterlongo, Paolo, Manoukian, Siranoush, Bonanni, Bernardo, Couch, Fergus J., Wang, Xianshu, Vachon, Celine, Purrington, Kristen, Giles, Graham G., Milne, Roger L., Mclean, Catriona, Haiman, Christopher A., Henderson, Brian E., Schumacher, Fredrick, Le Marchand, Loic, Simard, Jacques, Goldberg, Mark S., Labreche, France, Dumont, Martine, Teo, Soo Hwang, Yip, Cheng Har, Hassan, Norhashimah, Vithana, Eranga Nishanthie, Kristensen, Vessela, Zheng, Wei, Deming-Halverson, Sandra, Shrubsole, Martha J., Long, Jirong, Winqvist, Robert, Pylkaes, Katri, Jukkola-Vuorinen, Arja, Kauppila, Saila, Andrulis, Irene L., Knight, Julia A., Glendon, Gord, Tchatchou, Sandrine, Devilee, Peter, Tollenaar, Robert A. E. M., Seynaeve, Caroline, Van Asperen, Christi J., Garcia-Closas, Montserrat, Figueroa, Jonine, Lissowska, Jolanta, Brinton, Louise, Czene, Kamila, Darabi, Hatef, Eriksson, Mikael, Brand, Judith S., Hooning, Maartje J., Hollestelle, Antoinette, Van den Ouweland, Ans M. W., Jager, Agnes, Li, Jingmei, Liu, Jianjun, Humphreys, Keith, Shu, Xiao-Ou, Lu, Wei, Gao, Yu-Tang, Cai, Hui, Cross, Simon S., Reed, Malcolm W. R., Blot, William, Signorello, Lisa B., Cai, Qiuyin, Pharoah, Paul D. P., Perkins, Barbara, Shah, Mitul, Blows, Fiona M., Kang, Daehee, Yoo, Keun-Young, Noh, Dong-Young, Hartman, Mikael, Miao, Hui, Chia, Kee Seng, Putti, Thomas Choudary, Hamann, Ute, Luccarini, Craig, Baynes, Caroline, Ahmed, Shahana, Maranian, Mel, Healey, Catherine S., Jakubowska, Anna, Lubinski, Jan, Jaworska-Bieniek, Katarzyna, Durda, Katarzyna, Sangrajrang, Suleeporn, Gaborieau, Valerie, Brennan, Paul, Mckay, James, Slager, Susan, Toland, Amanda E., Yannoukakos, Drakoulis, Shen, Chen-Yang, Hsiung, Chia-Ni, Wu, Pei-Ei, Ding, Shian-ling, Ashworth, Alan, Jones, Michael, Orr, Nick, Swerdlow, Anthony J., Tsimiklis, Helen, Makalic, Enes, Schmidt, Daniel F., Bui, Quang M., Chanock, Stephen J., Hunter, David J., Hein, Rebecca, Dahmen, Norbert, Beckmann, Lars, Aaltonen, Kirsimari, Muranen, Taru A., Heikkinen, Tuomas, Irwanto, Astrid, Rahman, Nazneen, Turnbull, Clare A., Waisfisz, Quinten, Meijers-Heijboer, Hanne E. J., Adank, Muriel A., Van der Luijt, Rob B., Hall, Per, Chenevix-Trench, Georgia, Dunning, Alison, Easton, Douglas F., Cox, Angela, Lin, Wei-Yu, Camp, Nicola J., Ghoussaini, Maya, Beesley, Jonathan, Michailidou, Kyriaki, Hopper, John L., Apicella, Carmel, Southey, Melissa C., Stone, Jennifer, Schmidt, Marjanka K., Broeks, Annegien, Van't Veer, Laura J., Rutgers, Emiel J. Th, Muir, Kenneth, Lophatananon, Artitaya, Stewart-Brown, Sarah, Siriwanarangsan, Pornthep, Fasching, Peter A., Haeberle, Lothar, Ekici, Arif B., Beckmann, Matthias W., Peto, Julian, Dos-Santos-Silva, Isabel, Fletcher, Olivia, Johnson, Nichola, Bolla, Manjeet K., Wang, Qin, Dennis, Joe, Sawyer, Elinor J., Cheng, Timothy, Tomlinson, Ian, Kerin, Michael J., Miller, Nicola, Marme, Frederik, Surowy, Harald M., Burwinkel, Barbara, Guenel, Pascal, Truong, Therese, Menegaux, Florence, Mulot, Claire, Bojesen, Stig E., Nordestgaard, Borge G., Nielsen, Sune F., Flyger, Henrik, Benitez, Javier, Zamora, M. Pilar, Arias Perez, Jose Ignacio, Menendez, Primitiva, Gonzalez-Neira, Anna, Pita, Guillermo, Rosario Alonso, M., Alvarez, Nuria, Herrera, Daniel, Anton-Culver, Hoda, Brenner, Hermann, Dieffenbach, Aida Karina, Arndt, Volker, Stegmaier, Christa, Meindl, Alfons, Lichtner, Peter, Schmutzler, Rita K., Mueller-Myhsok, Bertram, Brauch, Hiltrud, Bruening, Thomas, Ko, Yon-Dschun, Tessier, Daniel C., Vincent, Daniel, Bacot, Francois, Nevanlinna, Heli, Aittomaeki, Kristiina, Blomqvist, Carl, Khan, Sofia, Matsuo, Keitaro, Ito, Hidemi, Iwata, Hiroji, Horio, Akiyo, Bogdanova, Natalia V., Antonenkova, Natalia N., Doerk, Thilo, Lindblom, Annika, Margolin, Sara, Mannermaa, Arto, Kataja, Vesa, Kosma, Veli-Matti, Hartikainen, Jaana M., Wu, Anna H., Tseng, Chiu-Chen, Van den Berg, David, Stram, Daniel O., Neven, Patrick, Wauters, Els, Wildiers, Hans, Lambrechts, Diether, Chang-Claude, Jenny, Rudolph, Anja, Seibold, Petra, Flesch-Janys, Dieter, Radice, Paolo, Peterlongo, Paolo, Manoukian, Siranoush, Bonanni, Bernardo, Couch, Fergus J., Wang, Xianshu, Vachon, Celine, Purrington, Kristen, Giles, Graham G., Milne, Roger L., Mclean, Catriona, Haiman, Christopher A., Henderson, Brian E., Schumacher, Fredrick, Le Marchand, Loic, Simard, Jacques, Goldberg, Mark S., Labreche, France, Dumont, Martine, Teo, Soo Hwang, Yip, Cheng Har, Hassan, Norhashimah, Vithana, Eranga Nishanthie, Kristensen, Vessela, Zheng, Wei, Deming-Halverson, Sandra, Shrubsole, Martha J., Long, Jirong, Winqvist, Robert, Pylkaes, Katri, Jukkola-Vuorinen, Arja, Kauppila, Saila, Andrulis, Irene L., Knight, Julia A., Glendon, Gord, Tchatchou, Sandrine, Devilee, Peter, Tollenaar, Robert A. E. M., Seynaeve, Caroline, Van Asperen, Christi J., Garcia-Closas, Montserrat, Figueroa, Jonine, Lissowska, Jolanta, Brinton, Louise, Czene, Kamila, Darabi, Hatef, Eriksson, Mikael, Brand, Judith S., Hooning, Maartje J., Hollestelle, Antoinette, Van den Ouweland, Ans M. W., Jager, Agnes, Li, Jingmei, Liu, Jianjun, Humphreys, Keith, Shu, Xiao-Ou, Lu, Wei, Gao, Yu-Tang, Cai, Hui, Cross, Simon S., Reed, Malcolm W. R., Blot, William, Signorello, Lisa B., Cai, Qiuyin, Pharoah, Paul D. P., Perkins, Barbara, Shah, Mitul, Blows, Fiona M., Kang, Daehee, Yoo, Keun-Young, Noh, Dong-Young, Hartman, Mikael, Miao, Hui, Chia, Kee Seng, Putti, Thomas Choudary, Hamann, Ute, Luccarini, Craig, Baynes, Caroline, Ahmed, Shahana, Maranian, Mel, Healey, Catherine S., Jakubowska, Anna, Lubinski, Jan, Jaworska-Bieniek, Katarzyna, Durda, Katarzyna, Sangrajrang, Suleeporn, Gaborieau, Valerie, Brennan, Paul, Mckay, James, Slager, Susan, Toland, Amanda E., Yannoukakos, Drakoulis, Shen, Chen-Yang, Hsiung, Chia-Ni, Wu, Pei-Ei, Ding, Shian-ling, Ashworth, Alan, Jones, Michael, Orr, Nick, Swerdlow, Anthony J., Tsimiklis, Helen, Makalic, Enes, Schmidt, Daniel F., Bui, Quang M., Chanock, Stephen J., Hunter, David J., Hein, Rebecca, Dahmen, Norbert, Beckmann, Lars, Aaltonen, Kirsimari, Muranen, Taru A., Heikkinen, Tuomas, Irwanto, Astrid, Rahman, Nazneen, Turnbull, Clare A., Waisfisz, Quinten, Meijers-Heijboer, Hanne E. J., Adank, Muriel A., Van der Luijt, Rob B., Hall, Per, Chenevix-Trench, Georgia, Dunning, Alison, Easton, Douglas F., and Cox, Angela

Abstract

Previous studies have suggested that polymorphisms in CASP8 on chromosome 2 are associated with breast cancer risk. To clarify the role of CASP8 in breast cancer susceptibility, we carried out dense genotyping of this region in the Breast Cancer Association Consortium (BCAC). Single-nucleotide polymorphisms (SNPs) spanning a 1 Mb region around CASP8 were genotyped in 46 450 breast cancer cases and 42 600 controls of European origin from 41 studies participating in the BCAC as part of a custom genotyping array experiment (iCOGS). Missing genotypes and SNPs were imputed and, after quality exclusions, 501 typed and 1232 imputed SNPs were included in logistic regression models adjusting for study and ancestry principal components. The SNPs retained in the final model were investigated further in data from nine genome-wide association studies (GWAS) comprising in total 10 052 case and 12 575 control subjects. The most significant association signal observed in European subjects was for the imputed intronic SNP rs1830298 in ALS2CR12 (telomeric to CASP8), with per allele odds ratio and 95% confidence interval [OR (95% confidence interval, Cl)] for the minor allele of 1.05(1.03-1.07), P = 1 x 10(-5). Three additional independent signals from intronic SNPs were identified, in CASP8 (rs36043647), ALS2CR11 (rs59278883) and CFLAR (rs7558475). The association with rs1830298 was replicated in the imputed results from the combined GWAS (P = 3 x 10(-6)), yielding a combined OR (95% Cl) of 1.06(1.04-1.08), P = 1 x 10(-9). Analyses of gene expression associations in peripheral blood and normal breast tissue indicate that CASP8 might be the target gene, suggesting a mechanism involving apoptosis.

Published
2015

26. Fine-Scale Mapping of the 5q11.2 Breast Cancer Locus Reveals at Least Three Independent Risk Variants Regulating MAP3K1

Author

Glubb, Dylan M., Maranian, Mel J., Michailidou, Kyriaki, Pooley, Karen A., Meyer, Kerstin B., Kar, Siddhartha, Carlebur, Saskia, O'Reilly, Martin, Betts, Joshua A., Hillman, Kristine M., Kaufmann, Susanne, Beesley, Jonathan, Canisius, Sander, Hopper, John L., Southey, Melissa C., Tsimiklis, Helen, Apicella, Carmel, Schmidt, Marjanka K., Broeks, Annegien, Hogervorst, Frans B., van der Schoot, C. Ellen, Muir, Kenneth, Lophatananon, Artitaya, Stewart-Brown, Sarah, Siriwanarangsan, Pornthep, Fasching, Peter A., Ruebner, Matthias, Ekici, Arif B., Beckmann, Matthias W., Peto, Julian, Dos-Santos-Silva, Isabel, Fletcher, Olivia, Johnson, Nichola, Pharoah, Paul D. P., Bolla, Manjeet K., Wang, Qin, Dennis, Joe, Sawyer, Elinor J., Tomlinson, Ian, Kerin, Michael J., Miller, Nicola, Burwinkel, Barbara, Marme, Frederik, Yang, Rongxi, Surowy, Harald, Guenel, Pascal, Truong, Therese, Menegaux, Florence, Sanchez, Marie, Bojesen, Stig E., Nordestgaard, Borge G., Nielsen, Sune F., Flyger, Henrik, Gonzalez-Neira, Anna, Benitez, Javier, Pilar Zamora, M., Arias Perez, Jose Ignacio, Anton-Culver, Hoda, Neuhausen, Susan L., Brenner, Hermann, Dieffenbach, Aida Karina, Arndt, Volker, Stegmaier, Christa, Meindl, Alfons, Schmutzler, Rita K., Brauch, Hiltrud, Ko, Yon-Dschun, Bruening, Thomas, Nevanlinna, Heli, Muranen, Taru A., Aittomaeki, Kristiina, Blomqvist, Carl, Matsuo, Keitaro, Ito, Hidemi, Iwata, Hiroji, Tanaka, Hideo, Doerk, Thilo, Bogdanova, Natalia V., Helbig, Sonja, Lindblom, Annika, Margolin, Sara, Mannermaa, Arto, Kataja, Vesa, Kosma, Veli-Matti, Hartikainen, Jaana M., Wu, Anna H., Tseng, Chiu-chen, Van den Berg, David, Stram, Daniel O., Lambrechts, Diether, Zhao, Hui, Weltens, Caroline, van Limbergen, Erik, Chang-Claude, Jenny, Flesch-Janys, Dieter, Rudolph, Anja, Seibold, Petra, Radice, Paolo, Peterlongo, Paolo, Barile, Monica, Capra, Fabio, Couch, Fergus J., Olson, Janet E., Hallberg, Emily, Vachon, Celine, Giles, Graham G., Milne, Roger L., McLean, Catriona, Haiman, Christopher A., Henderson, Brian E., Schumacher, Fredrick, Le Marchand, Loic, Simard, Jacques, Goldberg, Mark S., Labreche, France, Dumont, Martine, Teo, Soo Hwang, Yip, Cheng Har, See, Mee-Hoong, Cornes, Belinda, Cheng, Ching-Yu, Ikram, M. Kamran, Kristensen, Vessela, Zheng, Wei, Halverson, Sandra L., Shrubsole, Martha, Long, Jirong, Winqvist, Robert, Pylkaes, Katri, Jukkola-Vuorinen, Arja, Kauppila, Saila, Andrulis, Irene L., Knight, Julia A., Glendon, Gord, Tchatchou, Sandrine, Devilee, Peter, Tollenaar, Robert A. E. M., Seynaeve, Caroline, Van Asperen, Christi J., Garcia-Closas, Montserrat, Figueroa, Jonine, Chanock, Stephen J., Lissowska, Jolanta, Czene, Kamila, Klevebring, Daniel, Darabi, Hatef, Eriksson, Mikael, Hooning, Maartje J., Hollestelle, Antoinette, Martens, John W. M., Collee, J. Margriet, Hall, Per, Li, Jingmei, Humphreys, Keith, Shu, Xiao-Ou, Lu, Wei, Gao, Yu-Tang, Cai, Hui, Cox, Angela, Cross, Simon S., Reed, Malcolm W. R., Blot, William, Signorello, Lisa B., Cai, Qiuyin, Shah, Mitul, Ghoussaini, Maya, Kang, Daehee, Choi, Ji-Yeob, Park, Sue K., Noh, Dong-Young, Hartman, Mikael, Miao, Hui, Lim, Wei Yen, Tang, Anthony, Hamann, Ute, Torres, Diana, Jakubowska, Anna, Lubinski, Jan, Jaworska, Katarzyna, Durda, Katarzyna, Sangrajrang, Suleeporn, Gaborieau, Valerie, Brennan, Paul, McKay, James, Olswold, Curtis, Slager, Susan, Toland, Amanda E., Yannoukakos, Drakoulis, Shen, Chen-Yang, Wu, Pei-Ei, Yu, Jyh-Cherng, Hou, Ming-Feng, Swerdlow, Anthony, Ashworth, Alan, Orr, Nick, Jones, Michael, Pita, Guillermo, Rosario Alonso, M., Alvarez, Nuria, Herrero, Daniel, Tessier, Daniel C., Vincent, Daniel, Bacot, Francois, Luccarini, Craig, Baynes, Caroline, Ahmed, Shahana, Healey, Catherine S., Brown, Melissa A., Ponder, Bruce A. J., Chenevix-Trench, Georgia, Thompson, Deborah J., Edwards, Stacey L., Easton, Douglas F., Dunning, Alison M., French, Juliet D., Glubb, Dylan M., Maranian, Mel J., Michailidou, Kyriaki, Pooley, Karen A., Meyer, Kerstin B., Kar, Siddhartha, Carlebur, Saskia, O'Reilly, Martin, Betts, Joshua A., Hillman, Kristine M., Kaufmann, Susanne, Beesley, Jonathan, Canisius, Sander, Hopper, John L., Southey, Melissa C., Tsimiklis, Helen, Apicella, Carmel, Schmidt, Marjanka K., Broeks, Annegien, Hogervorst, Frans B., van der Schoot, C. Ellen, Muir, Kenneth, Lophatananon, Artitaya, Stewart-Brown, Sarah, Siriwanarangsan, Pornthep, Fasching, Peter A., Ruebner, Matthias, Ekici, Arif B., Beckmann, Matthias W., Peto, Julian, Dos-Santos-Silva, Isabel, Fletcher, Olivia, Johnson, Nichola, Pharoah, Paul D. P., Bolla, Manjeet K., Wang, Qin, Dennis, Joe, Sawyer, Elinor J., Tomlinson, Ian, Kerin, Michael J., Miller, Nicola, Burwinkel, Barbara, Marme, Frederik, Yang, Rongxi, Surowy, Harald, Guenel, Pascal, Truong, Therese, Menegaux, Florence, Sanchez, Marie, Bojesen, Stig E., Nordestgaard, Borge G., Nielsen, Sune F., Flyger, Henrik, Gonzalez-Neira, Anna, Benitez, Javier, Pilar Zamora, M., Arias Perez, Jose Ignacio, Anton-Culver, Hoda, Neuhausen, Susan L., Brenner, Hermann, Dieffenbach, Aida Karina, Arndt, Volker, Stegmaier, Christa, Meindl, Alfons, Schmutzler, Rita K., Brauch, Hiltrud, Ko, Yon-Dschun, Bruening, Thomas, Nevanlinna, Heli, Muranen, Taru A., Aittomaeki, Kristiina, Blomqvist, Carl, Matsuo, Keitaro, Ito, Hidemi, Iwata, Hiroji, Tanaka, Hideo, Doerk, Thilo, Bogdanova, Natalia V., Helbig, Sonja, Lindblom, Annika, Margolin, Sara, Mannermaa, Arto, Kataja, Vesa, Kosma, Veli-Matti, Hartikainen, Jaana M., Wu, Anna H., Tseng, Chiu-chen, Van den Berg, David, Stram, Daniel O., Lambrechts, Diether, Zhao, Hui, Weltens, Caroline, van Limbergen, Erik, Chang-Claude, Jenny, Flesch-Janys, Dieter, Rudolph, Anja, Seibold, Petra, Radice, Paolo, Peterlongo, Paolo, Barile, Monica, Capra, Fabio, Couch, Fergus J., Olson, Janet E., Hallberg, Emily, Vachon, Celine, Giles, Graham G., Milne, Roger L., McLean, Catriona, Haiman, Christopher A., Henderson, Brian E., Schumacher, Fredrick, Le Marchand, Loic, Simard, Jacques, Goldberg, Mark S., Labreche, France, Dumont, Martine, Teo, Soo Hwang, Yip, Cheng Har, See, Mee-Hoong, Cornes, Belinda, Cheng, Ching-Yu, Ikram, M. Kamran, Kristensen, Vessela, Zheng, Wei, Halverson, Sandra L., Shrubsole, Martha, Long, Jirong, Winqvist, Robert, Pylkaes, Katri, Jukkola-Vuorinen, Arja, Kauppila, Saila, Andrulis, Irene L., Knight, Julia A., Glendon, Gord, Tchatchou, Sandrine, Devilee, Peter, Tollenaar, Robert A. E. M., Seynaeve, Caroline, Van Asperen, Christi J., Garcia-Closas, Montserrat, Figueroa, Jonine, Chanock, Stephen J., Lissowska, Jolanta, Czene, Kamila, Klevebring, Daniel, Darabi, Hatef, Eriksson, Mikael, Hooning, Maartje J., Hollestelle, Antoinette, Martens, John W. M., Collee, J. Margriet, Hall, Per, Li, Jingmei, Humphreys, Keith, Shu, Xiao-Ou, Lu, Wei, Gao, Yu-Tang, Cai, Hui, Cox, Angela, Cross, Simon S., Reed, Malcolm W. R., Blot, William, Signorello, Lisa B., Cai, Qiuyin, Shah, Mitul, Ghoussaini, Maya, Kang, Daehee, Choi, Ji-Yeob, Park, Sue K., Noh, Dong-Young, Hartman, Mikael, Miao, Hui, Lim, Wei Yen, Tang, Anthony, Hamann, Ute, Torres, Diana, Jakubowska, Anna, Lubinski, Jan, Jaworska, Katarzyna, Durda, Katarzyna, Sangrajrang, Suleeporn, Gaborieau, Valerie, Brennan, Paul, McKay, James, Olswold, Curtis, Slager, Susan, Toland, Amanda E., Yannoukakos, Drakoulis, Shen, Chen-Yang, Wu, Pei-Ei, Yu, Jyh-Cherng, Hou, Ming-Feng, Swerdlow, Anthony, Ashworth, Alan, Orr, Nick, Jones, Michael, Pita, Guillermo, Rosario Alonso, M., Alvarez, Nuria, Herrero, Daniel, Tessier, Daniel C., Vincent, Daniel, Bacot, Francois, Luccarini, Craig, Baynes, Caroline, Ahmed, Shahana, Healey, Catherine S., Brown, Melissa A., Ponder, Bruce A. J., Chenevix-Trench, Georgia, Thompson, Deborah J., Edwards, Stacey L., Easton, Douglas F., Dunning, Alison M., and French, Juliet D.

Abstract

Genome-wide association studies (GWASs) have revealed SNP rs889312 on 5q11.2 to be associated with breast cancer risk in women of European ancestry. In an attempt to identify the biologically relevant variants, we analyzed 909 genetic variants across 5q11.2 in 103,991 breast cancer individuals and control individuals from 52 studies in the Breast Cancer Association Consortium. Multiple logistic regression analyses identified three independent risk signals: the strongest associations were with 15 correlated variants (iCHAV1), where the minor allele of the best candidate, rs62355902, associated with significantly increased risks of both estrogen-receptor-positive (ER-: odds ratio [OR] = 1.24, 95% confidence interval [CI] = 1.21-1.27, p(trend) = 5.7 3 10(-44)) and estrogen-receptor-negative (ER-: OR = 1.10, 95% CI = 1.05-1.15, p(trend) = 3.0 x 10(-4)) tumors. After adjustment for rs62355902, we found evidence of association of a further 173 variants (iCHAV2) containing three subsets with a range of effects (the strongest was rs113317823 [p(cond) = 1.61 x 10(-5)]) and five variants composing iCHAV3 (lead rs11949391; ER-: OR = 0.90, 95% CI = 0.87-0.93, p(cond) = 1.4 x 10(-4)). Twenty-six percent of the prioritized candidate variants coincided with four putative regulatory elements that interact with the MAP3K1 promoter through chromatin looping and affect MAP3K1 promoter activity. Functional analysis indicated that the cancer risk alleles of four candidates (rs74345699 and rs62355900 [iCHAV1], rs16886397 [iCHAV2a], and rs17432750 [iCHAV3]) increased MAP3K1 transcriptional activity. Chromatin immunoprecipitation analysis revealed diminished GATA3 binding to the minor (cancer-protective) allele of rs17432750, indicating a mechanism for its action. We propose that the cancer risk alleles act to increase MAP3K1 expression in vivo and might promote breast cancer cell survival.

Published
2015

27. Prediction of Breast Cancer Risk Based on Profiling With Common Genetic Variants

Author

Mavaddat, Nasim, Pharoah, Paul D. P., Michailidou, Kyriaki, Tyrer, Jonathan, Brook, Mark N., Bolla, Manjeet K., Wang, Qin, Dennis, Joe, Dunning, Alison M., Shah, Mitul, Luben, Robert, Brown, Judith, Bojesen, Stig E., Nordestgaard, Borge G., Nielsen, Sune F., Flyger, Henrik, Czene, Kamila, Darabi, Hatef, Eriksson, Mikael, Peto, Julian, dos-Santos-Silva, Isabel, Dudbridge, Frank, Johnson, Nichola, Schmidt, Marjanka K., Broeks, Annegien, Verhoef, Senno, Rutgers, Emiel J., Swerdlow, Anthony, Ashworth, Alan, Orr, Nick, Schoemaker, Minouk J., Figueroa, Jonine, Chanock, Stephen J., Brinton, Louise, Lissowska, Jolanta, Couch, Fergus J., Olson, Janet E., Vachon, Celine, Pankratz, Vernon S., Lambrechts, Diether, Wildiers, Hans, Van Ongeval, Chantal, Van Limbergen, Erik, Kristensen, Vessela, Alnaes, Grethe Grenaker, Nord, Silje, Borresen-Dale, Anne-Lise, Nevanlinna, Heli, Muranen, Taru A., Aittomaeki, Kristiina, Blomqvist, Carl, Chang-Claude, Jenny, Rudolph, Anja, Seibold, Petra, Flesch-Janys, Dieter, Fasching, Peter A., Haeberle, Lothar, Ekici, Arif B., Beckmann, Matthias W., Burwinkel, Barbara, Marme, Frederik, Schneeweiss, Andreas, Sohn, Christof, Trentham-Dietz, Amy, Newcomb, Polly, Titus, Linda, Egan, Kathleen M., Hunter, David J., Lindstrom, Sara, Tamimi, Rulla M., Kraft, Peter, Rahman, Nazneen, Turnbull, Clare, Renwick, Anthony, Seal, Sheila, Li, Jingmei, Liu, Jianjun, Humphreys, Keith, Benitez, Javier, Zamora, M. Pilar, Perez, Jose Ignacio Arias, Menendez, Primitiva, Jakubowska, Anna, Lubinski, Jan, Jaworska-Bieniek, Katarzyna, Durda, Katarzyna, Bogdanova, Natalia V., Antonenkova, Natalia N., Doerk, Thilo, Anton-Culver, Hoda, Neuhausen, Susan L., Ziogas, Argyrios, Bernstein, Leslie, Devilee, Peter, Tollenaar, Robert A. E. M., Seynaeve, Caroline, van Asperen, Christi J., Cox, Angela, Cross, Simon S., Reed, Malcolm W. R., Khusnutdinova, Elza, Bermisheva, Marina, Prokofyeva, Darya, Takhirova, Zalina, Meindl, Alfons, Schmutzler, Rita K., Sutter, Christian, Yang, Rongxi, Schuermann, Peter, Bremer, Michael, Christiansen, Hans, Park-Simon, Tjoung-Won, Hillemanns, Peter, Guenel, Pascal, Truong, Therese, Menegaux, Florence, Sanchez, Marie, Radice, Paolo, Peterlongo, Paolo, Manoukian, Siranoush, Pensotti, Valeria, Hopper, John L., Tsimiklis, Helen, Apicella, Carmel, Southey, Melissa C., Brauch, Hiltrud, Bruening, Thomas, Ko, Yon-Dschun, Sigurdson, Alice J., Doody, Michele M., Hamann, Ute, Torres, Diana, Ulmer, Hans-Ulrich, Försti, Asta, Sawyer, Elinor J., Tomlinson, Ian, Kerin, Michael J., Miller, Nicola, Andrulis, Irene L., Knight, Julia A., Glendon, Gord, Mulligan, Anna Marie, Chenevix-Trench, Georgia, Balleine, Rosemary, Giles, Graham G., Milne, Roger L., McLean, Catriona, Lindblom, Annika, Margolin, Sara, Haiman, Christopher A., Henderson, Brian E., Schumacher, Fredrick, Le Marchand, Loic, Eilber, Ursula, Wang-Gohrke, Shan, Hooning, Maartje J., Hollestelle, Antoinette, van den Ouweland, Ans M. W., Koppert, Linetta B., Carpenter, Jane, Clarke, Christine, Scott, Rodney, Mannermaa, Arto, Kataja, Vesa, Kosma, Veli-Matti, Hartikainen, Jaana M., Brenner, Hermann, Arndt, Volker, Stegmaier, Christa, Dieffenbach, Aida Karina, Winqvist, Robert, Pylkaes, Katri, Jukkola-Vuorinen, Arja, Grip, Mervi, Offit, Kenneth, Vijai, Joseph, Robson, Mark, Rau-Murthy, Rohini, Dwek, Miriam, Swann, Ruth, Perkins, Katherine Annie, Goldberg, Mark S., Labreche, France, Dumont, Martine, Eccles, Diana M., Tapper, William J., Rafiq, Sajjad, John, Esther M., Whittemore, Alice S., Slager, Susan, Yannoukakos, Drakoulis, Toland, Amanda E., Yao, Song, Zheng, Wei, Halverson, Sandra L., Gonzalez-Neira, Anna, Pita, Guillermo, Alonso, M. Rosario, Alvarez, Nuria, Herrero, Daniel, Tessier, Daniel C., Vincent, Daniel, Bacot, Francois, Luccarini, Craig, Baynes, Caroline, Ahmed, Shahana, Maranian, Mel, Healey, Catherine S., Simard, Jacques, Hall, Per, Easton, Douglas F., Garcia-Closas, Montserrat, Mavaddat, Nasim, Pharoah, Paul D. P., Michailidou, Kyriaki, Tyrer, Jonathan, Brook, Mark N., Bolla, Manjeet K., Wang, Qin, Dennis, Joe, Dunning, Alison M., Shah, Mitul, Luben, Robert, Brown, Judith, Bojesen, Stig E., Nordestgaard, Borge G., Nielsen, Sune F., Flyger, Henrik, Czene, Kamila, Darabi, Hatef, Eriksson, Mikael, Peto, Julian, dos-Santos-Silva, Isabel, Dudbridge, Frank, Johnson, Nichola, Schmidt, Marjanka K., Broeks, Annegien, Verhoef, Senno, Rutgers, Emiel J., Swerdlow, Anthony, Ashworth, Alan, Orr, Nick, Schoemaker, Minouk J., Figueroa, Jonine, Chanock, Stephen J., Brinton, Louise, Lissowska, Jolanta, Couch, Fergus J., Olson, Janet E., Vachon, Celine, Pankratz, Vernon S., Lambrechts, Diether, Wildiers, Hans, Van Ongeval, Chantal, Van Limbergen, Erik, Kristensen, Vessela, Alnaes, Grethe Grenaker, Nord, Silje, Borresen-Dale, Anne-Lise, Nevanlinna, Heli, Muranen, Taru A., Aittomaeki, Kristiina, Blomqvist, Carl, Chang-Claude, Jenny, Rudolph, Anja, Seibold, Petra, Flesch-Janys, Dieter, Fasching, Peter A., Haeberle, Lothar, Ekici, Arif B., Beckmann, Matthias W., Burwinkel, Barbara, Marme, Frederik, Schneeweiss, Andreas, Sohn, Christof, Trentham-Dietz, Amy, Newcomb, Polly, Titus, Linda, Egan, Kathleen M., Hunter, David J., Lindstrom, Sara, Tamimi, Rulla M., Kraft, Peter, Rahman, Nazneen, Turnbull, Clare, Renwick, Anthony, Seal, Sheila, Li, Jingmei, Liu, Jianjun, Humphreys, Keith, Benitez, Javier, Zamora, M. Pilar, Perez, Jose Ignacio Arias, Menendez, Primitiva, Jakubowska, Anna, Lubinski, Jan, Jaworska-Bieniek, Katarzyna, Durda, Katarzyna, Bogdanova, Natalia V., Antonenkova, Natalia N., Doerk, Thilo, Anton-Culver, Hoda, Neuhausen, Susan L., Ziogas, Argyrios, Bernstein, Leslie, Devilee, Peter, Tollenaar, Robert A. E. M., Seynaeve, Caroline, van Asperen, Christi J., Cox, Angela, Cross, Simon S., Reed, Malcolm W. R., Khusnutdinova, Elza, Bermisheva, Marina, Prokofyeva, Darya, Takhirova, Zalina, Meindl, Alfons, Schmutzler, Rita K., Sutter, Christian, Yang, Rongxi, Schuermann, Peter, Bremer, Michael, Christiansen, Hans, Park-Simon, Tjoung-Won, Hillemanns, Peter, Guenel, Pascal, Truong, Therese, Menegaux, Florence, Sanchez, Marie, Radice, Paolo, Peterlongo, Paolo, Manoukian, Siranoush, Pensotti, Valeria, Hopper, John L., Tsimiklis, Helen, Apicella, Carmel, Southey, Melissa C., Brauch, Hiltrud, Bruening, Thomas, Ko, Yon-Dschun, Sigurdson, Alice J., Doody, Michele M., Hamann, Ute, Torres, Diana, Ulmer, Hans-Ulrich, Försti, Asta, Sawyer, Elinor J., Tomlinson, Ian, Kerin, Michael J., Miller, Nicola, Andrulis, Irene L., Knight, Julia A., Glendon, Gord, Mulligan, Anna Marie, Chenevix-Trench, Georgia, Balleine, Rosemary, Giles, Graham G., Milne, Roger L., McLean, Catriona, Lindblom, Annika, Margolin, Sara, Haiman, Christopher A., Henderson, Brian E., Schumacher, Fredrick, Le Marchand, Loic, Eilber, Ursula, Wang-Gohrke, Shan, Hooning, Maartje J., Hollestelle, Antoinette, van den Ouweland, Ans M. W., Koppert, Linetta B., Carpenter, Jane, Clarke, Christine, Scott, Rodney, Mannermaa, Arto, Kataja, Vesa, Kosma, Veli-Matti, Hartikainen, Jaana M., Brenner, Hermann, Arndt, Volker, Stegmaier, Christa, Dieffenbach, Aida Karina, Winqvist, Robert, Pylkaes, Katri, Jukkola-Vuorinen, Arja, Grip, Mervi, Offit, Kenneth, Vijai, Joseph, Robson, Mark, Rau-Murthy, Rohini, Dwek, Miriam, Swann, Ruth, Perkins, Katherine Annie, Goldberg, Mark S., Labreche, France, Dumont, Martine, Eccles, Diana M., Tapper, William J., Rafiq, Sajjad, John, Esther M., Whittemore, Alice S., Slager, Susan, Yannoukakos, Drakoulis, Toland, Amanda E., Yao, Song, Zheng, Wei, Halverson, Sandra L., Gonzalez-Neira, Anna, Pita, Guillermo, Alonso, M. Rosario, Alvarez, Nuria, Herrero, Daniel, Tessier, Daniel C., Vincent, Daniel, Bacot, Francois, Luccarini, Craig, Baynes, Caroline, Ahmed, Shahana, Maranian, Mel, Healey, Catherine S., Simard, Jacques, Hall, Per, Easton, Douglas F., and Garcia-Closas, Montserrat

Abstract

Background: Data for multiple common susceptibility alleles for breast cancer may be combined to identify women at different levels of breast cancer risk. Such stratification could guide preventive and screening strategies. However, empirical evidence for genetic risk stratification is lacking. Methods: We investigated the value of using 77 breast cancer-associated single nucleotide polymorphisms (SNPs) for risk stratification, in a study of 33 673 breast cancer cases and 33 381 control women of European origin. We tested all possible pair-wise multiplicative interactions and constructed a 77-SNP polygenic risk score (PRS) for breast cancer overall and by estrogen receptor (ER) status. Absolute risks of breast cancer by PRS were derived from relative risk estimates and UK incidence and mortality rates. Results: There was no strong evidence for departure from a multiplicative model for any SNP pair. Women in the highest 1% of the PRS had a three-fold increased risk of developing breast cancer compared with women in the middle quintile (odds ratio [OR] = 3.36, 95% confidence interval [CI] = 2.95 to 3.83). The ORs for ER-positive and ER-negative disease were 3.73 (95% CI = 3.24 to 4.30) and 2.80 (95% CI = 2.26 to 3.46), respectively. Lifetime risk of breast cancer for women in the lowest and highest quintiles of the PRS were 5.2% and 16.6% for a woman without family history, and 8.6% and 24.4% for a woman with a first-degree family history of breast cancer. Conclusions: The PRS stratifies breast cancer risk in women both with and without a family history of breast cancer. The observed level of risk discrimination could inform targeted screening and prevention strategies. Further discrimination may be achievable through combining the PRS with lifestyle/environmental factors, although these were not considered in this report.

Published
2015

28. Genetic Predisposition to In Situ and Invasive Lobular Carcinoma of the Breast

Author

University of Helsinki, Department of Obstetrics and Gynecology, University of Helsinki, Haartman Institute, University of Helsinki, Clinicum, Sawyer, Elinor, Roylance, Rebecca, Petridis, Christos, Brook, Mark N., Nowinski, Salpie, Papouli, Efterpi, Fletcher, Olivia, Pinder, Sarah, Hanby, Andrew, Kohut, Kelly, Gorman, Patricia, Caneppele, Michele, Peto, Julian, Silva, Isabel dos Santos, Johnson, Nichola, Swann, Ruth, Dwek, Miriam, Perkins, Katherine-Anne, Gillett, Cheryl, Houlston, Richard, Ross, Gillian, De Ieso, Paolo, Southey, Melissa C., Hopper, John L., Provenzano, Elena, Apicella, Carmel, Wesseling, Jelle, Cornelissen, Sten, Keeman, Renske, Fasching, Peter A., Jud, Sebastian M., Ekici, Arif B., Beckmann, Matthias W., Kerin, Michael J., Marme, Federick, Schneeweiss, Andreas, Sohn, Christof, Burwinkel, Barbara, Guenel, Pascal, Truong, Therese, Laurent-Puig, Pierre, Kerbrat, Pierre, Bojesen, Stig E., Nordestgaard, Borge G., Nielsen, Sune F., Flyger, Henrik, Milne, Roger L., Perez, Jose Ignacio Arias, Menendez, Primitiva, Benitez, Javier, Brenner, Hermann, Dieffenbach, Aida Karina, Arndt, Volker, Stegmaier, Christa, Meindl, Alfons, Lichtner, Peter, Schmutzler, Rita K., Lochmann, Magdalena, Brauch, Hiltrud, Fischer, Hans-Peter, Ko, Yon-Dschun, Nevanlinna, Heli, Muranen, Taru A., Aittomaki, Kristiina, Blomqvist, Carl, Bogdanova, Natalia V., Dork, Thilo, Lindblom, Annika, Margolin, Sara, Mannermaa, Arto, Kataja, Vesa, Kosma, Veli-Matti, Hartikainen, Jaana M., Chenevix-Trench, Georgia, Lambrechts, Diether, Weltens, Caroline, Van Limbergen, Erik, Hatse, Sigrid, Chang-Claude, Jenny, Rudolph, Anja, Seibold, Petra, Flesch-Janys, Dieter, Radice, Paolo, Peterlongo, Paolo, Bonanni, Bernardo, Volorio, Sara, Giles, Graham G., Severi, Gianluca, Baglietto, Laura, Mclean, Catriona A., Haiman, Christopher A., Henderson, Brian E., Schumacher, Fredrick, Le Marchand, Loic, Simard, Jacques, Goldberg, Mark S., Labreche, France, Dumont, Martine, Kristensen, Vessela, Winqvist, Robert, Pylkas, Katri, Jukkola-Vuorinen, Arja, Kauppila, Saila, Andrulis, Irene L., Knight, Julia A., Glendon, Gord, Mulligan, Anna Marie, Devillee, Peter, Tollenaar, Rob A. E. M., Seynaeve, Caroline M., Kriege, Mieke, Figueroa, Jonine, Chanock, Stephen J., Sherman, Mark E., Hooning, Maartje J., Hollestelle, Antoinette, van den Ouweland, Ans M. W., van Deurzen, Carolien H. M., Li, Jingmei, Czene, Kamila, Humphreys, Keith, Cox, Angela, Cross, Simon S., Reed, Malcolm W. R., Shah, Mitul, Jakubowska, Anna, Lubinski, Jan, Jaworska-Bieniek, Katarzyna, Durda, Katarzyna, Swerdlow, Anthony, Ashworth, Alan, Orr, Nicholas, Schoemaker, Minouk, Couch, Fergus J., Hallberg, Emily, Gonzalez-Neira, Anna, Pita, Guillermo, Alonso, M. Rosario, Tessier, Daniel C., Vincent, Daniel, Bacot, Francois, Bolla, Manjeet K., Wang, Qin, Dennis, Joe, Michailidou, Kyriaki, Dunning, Alison M., Hall, Per, Easton, Doug, Pharoah, Paul, Schmidt, Marjanka K., Tomlinson, Ian, Garcia-Closas, Montserrat, GENICA Network, KConFab Investigators, University of Helsinki, Department of Obstetrics and Gynecology, University of Helsinki, Haartman Institute, University of Helsinki, Clinicum, Sawyer, Elinor, Roylance, Rebecca, Petridis, Christos, Brook, Mark N., Nowinski, Salpie, Papouli, Efterpi, Fletcher, Olivia, Pinder, Sarah, Hanby, Andrew, Kohut, Kelly, Gorman, Patricia, Caneppele, Michele, Peto, Julian, Silva, Isabel dos Santos, Johnson, Nichola, Swann, Ruth, Dwek, Miriam, Perkins, Katherine-Anne, Gillett, Cheryl, Houlston, Richard, Ross, Gillian, De Ieso, Paolo, Southey, Melissa C., Hopper, John L., Provenzano, Elena, Apicella, Carmel, Wesseling, Jelle, Cornelissen, Sten, Keeman, Renske, Fasching, Peter A., Jud, Sebastian M., Ekici, Arif B., Beckmann, Matthias W., Kerin, Michael J., Marme, Federick, Schneeweiss, Andreas, Sohn, Christof, Burwinkel, Barbara, Guenel, Pascal, Truong, Therese, Laurent-Puig, Pierre, Kerbrat, Pierre, Bojesen, Stig E., Nordestgaard, Borge G., Nielsen, Sune F., Flyger, Henrik, Milne, Roger L., Perez, Jose Ignacio Arias, Menendez, Primitiva, Benitez, Javier, Brenner, Hermann, Dieffenbach, Aida Karina, Arndt, Volker, Stegmaier, Christa, Meindl, Alfons, Lichtner, Peter, Schmutzler, Rita K., Lochmann, Magdalena, Brauch, Hiltrud, Fischer, Hans-Peter, Ko, Yon-Dschun, Nevanlinna, Heli, Muranen, Taru A., Aittomaki, Kristiina, Blomqvist, Carl, Bogdanova, Natalia V., Dork, Thilo, Lindblom, Annika, Margolin, Sara, Mannermaa, Arto, Kataja, Vesa, Kosma, Veli-Matti, Hartikainen, Jaana M., Chenevix-Trench, Georgia, Lambrechts, Diether, Weltens, Caroline, Van Limbergen, Erik, Hatse, Sigrid, Chang-Claude, Jenny, Rudolph, Anja, Seibold, Petra, Flesch-Janys, Dieter, Radice, Paolo, Peterlongo, Paolo, Bonanni, Bernardo, Volorio, Sara, Giles, Graham G., Severi, Gianluca, Baglietto, Laura, Mclean, Catriona A., Haiman, Christopher A., Henderson, Brian E., Schumacher, Fredrick, Le Marchand, Loic, Simard, Jacques, Goldberg, Mark S., Labreche, France, Dumont, Martine, Kristensen, Vessela, Winqvist, Robert, Pylkas, Katri, Jukkola-Vuorinen, Arja, Kauppila, Saila, Andrulis, Irene L., Knight, Julia A., Glendon, Gord, Mulligan, Anna Marie, Devillee, Peter, Tollenaar, Rob A. E. M., Seynaeve, Caroline M., Kriege, Mieke, Figueroa, Jonine, Chanock, Stephen J., Sherman, Mark E., Hooning, Maartje J., Hollestelle, Antoinette, van den Ouweland, Ans M. W., van Deurzen, Carolien H. M., Li, Jingmei, Czene, Kamila, Humphreys, Keith, Cox, Angela, Cross, Simon S., Reed, Malcolm W. R., Shah, Mitul, Jakubowska, Anna, Lubinski, Jan, Jaworska-Bieniek, Katarzyna, Durda, Katarzyna, Swerdlow, Anthony, Ashworth, Alan, Orr, Nicholas, Schoemaker, Minouk, Couch, Fergus J., Hallberg, Emily, Gonzalez-Neira, Anna, Pita, Guillermo, Alonso, M. Rosario, Tessier, Daniel C., Vincent, Daniel, Bacot, Francois, Bolla, Manjeet K., Wang, Qin, Dennis, Joe, Michailidou, Kyriaki, Dunning, Alison M., Hall, Per, Easton, Doug, Pharoah, Paul, Schmidt, Marjanka K., Tomlinson, Ian, Garcia-Closas, Montserrat, GENICA Network, and KConFab Investigators

Published
2014

29. Genetic variation at CYP3A is associated with age at menarche and breast cancer risk: a case-control study

Author

Johnson, Nichola, Dudbridge, Frank, Orr, Nick, Gibson, Lorna, Jones, Michael E., Schoemaker, Minouk J., Folkerd, Elizabeth J., Haynes, Ben P., Hopper, John L., Southey, Melissa C., Dite, Gillian S., Apicella, Carmel, Schmidt, Marjanka K., Broeks, Annegien, Van't Veer, Laura J., Atsma, Femke, Muir, Kenneth, Lophatananon, Artitaya, Fasching, Peter A., Beckmann, Matthias W., Ekici, Arif B., Renner, Stefan P., Sawyer, Elinor, Tomlinson, Ian, Kerin, Michael, Miller, Nicola, Burwinkel, Barbara, Marme, Frederik, Schneeweiss, Andreas, Sohn, Christof, Guenel, Pascal, Truong, Therese, Cordina, Emilie, Menegaux, Florence, Bojesen, Stig E., Nordestgaard, Borge G., Flyger, Henrik, Milne, Roger, Zamora, M. Pilar, Arias Perez, Jose Ignacio, Benitez, Javier, Bernstein, Leslie, Anton-Culver, Hoda, Ziogas, Argyrios, Dur, Christina Clarke, Brenner, Hermann, Mueller, Heiko, Arndt, Volker, Dieffenbach, Aida Karina, Meindl, Alfons, Heil, Joerg, Bartram, Claus R., Schmutzler, Rita K., Brauch, Hiltrud, Justenhoven, Christina, Ko, Yon-Dschun, Nevanlinna, Heli, Muranen, Taru A., Aittomaeki, Kristiina, Blomqvist, Carl, Matsuo, Keitaro, Doerk, Thilo, Bogdanova, Natalia V., Antonenkova, Natalia N., Lindblom, Annika, Mannermaa, Arto, Kataja, Vesa, Kosma, Veli-Matti, Hartikainen, Jaana M., Chenevix-Trench, Georgia, Beesley, Jonathan, Wu, Anna H., Van den Berg, David, Tseng, Chiu-Chen, Lambrechts, Diether, Smeets, Dominiek, Neven, Patrick, Wildiers, Hans, Chang-Claude, Jenny, Rudolph, Anja, Nickels, Stefan, Flesch-Janys, Dieter, Radice, Paolo, Peterlongo, Paolo, Bonanni, Bernardo, Pensotti, Valeria, Couch, Fergus J., Olson, Janet E., Wang, Xianshu, Fredericksen, Zachary, Pankratz, Vernon S., Giles, Graham G., Severi, Gianluca, Baglietto, Laura, Haiman, Chris, Simard, Jacques, Goldberg, Mark S., Labreche, France, Dumont, Martine, Soucy, Penny, Teo, Soo, Yip, Cheng Har, Phuah, Sze Yee, Cornes, Belinda K., Kristensen, Vessela N., Alnaes, Grethe Grenaker, Borresen-Dale, Anne-Lise, Zheng, Wei, Winqvist, Robert, Pylkaes, Katri, Jukkola-Vuorinen, Arja, Grip, Mervi, Andrulis, Irene L., Knight, Julia A., Glendon, Gord, Mulligan, Anna Marie, Devillee, Peter, Figueroa, Jonine, Chanock, Stephen J., Lissowska, Jolanta, Sherman, Mark E., Hall, Per, Schoof, Nils, Hooning, Maartje, Hollestelle, Antoinette, Oldenburg, Rogier A., Tilanus-Linthorst, Madeleine, Liu, Jianjun, Cox, Angie, Brock, Ian W., Reed, Malcolm W. R., Cross, Simon S., Blot, William, Signorello, Lisa B., Pharoah, Paul D. P., Dunning, Alison M., Shah, Mitul, Kang, Daehee, Noh, Dong-Young, Park, Sue K., Choi, Ji-Yeob, Hartman, Mikael, Miao, Hui, Lim, Wei Yen, Tang, Anthony, Hamann, Ute, Foersti, Asta, Ruediger, Thomas, Ulmer, Hans Ulrich, Jakubowska, Anna, Lubinski, Jan, Jaworska-Bieniek, Katarzyna, Durda, Katarzyna, Sangrajrang, Suleeporn, Gaborieau, Valerie, Brennan, Paul, Mckay, James, Slager, Susan, Toland, Amanda E., Vachon, Celine, Yannoukakos, Drakoulis, Shen, Chen-Yang, Yu, Jyh-Cherng, Huang, Chiun-Sheng, Hou, Ming-Feng, Gonzalez-Neira, Anna, Tessier, Daniel C., Vincent, Daniel, Bacot, Francois, Luccarini, Craig, Dennis, Joe, Michailidou, Kyriaki, Bolla, Manjeet K., Wang, Jean, Easton, Douglas F., Garcia-Closas, Montserrat, Dowsett, Mitch, Ashworth, Alan, Swerdlow, Anthony J., Peto, Julian, Silva, Isabel dos Santos, Fletcher, Olivia, Johnson, Nichola, Dudbridge, Frank, Orr, Nick, Gibson, Lorna, Jones, Michael E., Schoemaker, Minouk J., Folkerd, Elizabeth J., Haynes, Ben P., Hopper, John L., Southey, Melissa C., Dite, Gillian S., Apicella, Carmel, Schmidt, Marjanka K., Broeks, Annegien, Van't Veer, Laura J., Atsma, Femke, Muir, Kenneth, Lophatananon, Artitaya, Fasching, Peter A., Beckmann, Matthias W., Ekici, Arif B., Renner, Stefan P., Sawyer, Elinor, Tomlinson, Ian, Kerin, Michael, Miller, Nicola, Burwinkel, Barbara, Marme, Frederik, Schneeweiss, Andreas, Sohn, Christof, Guenel, Pascal, Truong, Therese, Cordina, Emilie, Menegaux, Florence, Bojesen, Stig E., Nordestgaard, Borge G., Flyger, Henrik, Milne, Roger, Zamora, M. Pilar, Arias Perez, Jose Ignacio, Benitez, Javier, Bernstein, Leslie, Anton-Culver, Hoda, Ziogas, Argyrios, Dur, Christina Clarke, Brenner, Hermann, Mueller, Heiko, Arndt, Volker, Dieffenbach, Aida Karina, Meindl, Alfons, Heil, Joerg, Bartram, Claus R., Schmutzler, Rita K., Brauch, Hiltrud, Justenhoven, Christina, Ko, Yon-Dschun, Nevanlinna, Heli, Muranen, Taru A., Aittomaeki, Kristiina, Blomqvist, Carl, Matsuo, Keitaro, Doerk, Thilo, Bogdanova, Natalia V., Antonenkova, Natalia N., Lindblom, Annika, Mannermaa, Arto, Kataja, Vesa, Kosma, Veli-Matti, Hartikainen, Jaana M., Chenevix-Trench, Georgia, Beesley, Jonathan, Wu, Anna H., Van den Berg, David, Tseng, Chiu-Chen, Lambrechts, Diether, Smeets, Dominiek, Neven, Patrick, Wildiers, Hans, Chang-Claude, Jenny, Rudolph, Anja, Nickels, Stefan, Flesch-Janys, Dieter, Radice, Paolo, Peterlongo, Paolo, Bonanni, Bernardo, Pensotti, Valeria, Couch, Fergus J., Olson, Janet E., Wang, Xianshu, Fredericksen, Zachary, Pankratz, Vernon S., Giles, Graham G., Severi, Gianluca, Baglietto, Laura, Haiman, Chris, Simard, Jacques, Goldberg, Mark S., Labreche, France, Dumont, Martine, Soucy, Penny, Teo, Soo, Yip, Cheng Har, Phuah, Sze Yee, Cornes, Belinda K., Kristensen, Vessela N., Alnaes, Grethe Grenaker, Borresen-Dale, Anne-Lise, Zheng, Wei, Winqvist, Robert, Pylkaes, Katri, Jukkola-Vuorinen, Arja, Grip, Mervi, Andrulis, Irene L., Knight, Julia A., Glendon, Gord, Mulligan, Anna Marie, Devillee, Peter, Figueroa, Jonine, Chanock, Stephen J., Lissowska, Jolanta, Sherman, Mark E., Hall, Per, Schoof, Nils, Hooning, Maartje, Hollestelle, Antoinette, Oldenburg, Rogier A., Tilanus-Linthorst, Madeleine, Liu, Jianjun, Cox, Angie, Brock, Ian W., Reed, Malcolm W. R., Cross, Simon S., Blot, William, Signorello, Lisa B., Pharoah, Paul D. P., Dunning, Alison M., Shah, Mitul, Kang, Daehee, Noh, Dong-Young, Park, Sue K., Choi, Ji-Yeob, Hartman, Mikael, Miao, Hui, Lim, Wei Yen, Tang, Anthony, Hamann, Ute, Foersti, Asta, Ruediger, Thomas, Ulmer, Hans Ulrich, Jakubowska, Anna, Lubinski, Jan, Jaworska-Bieniek, Katarzyna, Durda, Katarzyna, Sangrajrang, Suleeporn, Gaborieau, Valerie, Brennan, Paul, Mckay, James, Slager, Susan, Toland, Amanda E., Vachon, Celine, Yannoukakos, Drakoulis, Shen, Chen-Yang, Yu, Jyh-Cherng, Huang, Chiun-Sheng, Hou, Ming-Feng, Gonzalez-Neira, Anna, Tessier, Daniel C., Vincent, Daniel, Bacot, Francois, Luccarini, Craig, Dennis, Joe, Michailidou, Kyriaki, Bolla, Manjeet K., Wang, Jean, Easton, Douglas F., Garcia-Closas, Montserrat, Dowsett, Mitch, Ashworth, Alan, Swerdlow, Anthony J., Peto, Julian, Silva, Isabel dos Santos, and Fletcher, Olivia

Abstract

Introduction: We have previously shown that a tag single nucleotide polymorphism (rs10235235), which maps to the CYP3A locus (7q22.1), was associated with a reduction in premenopausal urinary estrone glucuronide levels and a modest reduction in risk of breast cancer in women age <= 50 years. Methods: We further investigated the association of rs10235235 with breast cancer risk in a large case control study of 47,346 cases and 47,570 controls from 52 studies participating in the Breast Cancer Association Consortium. Genotyping of rs10235235 was conducted using a custom Illumina Infinium array. Stratified analyses were conducted to determine whether this association was modified by age at diagnosis, ethnicity, age at menarche or tumor characteristics. Results: We confirmed the association of rs10235235 with breast cancer risk for women of European ancestry but found no evidence that this association differed with age at diagnosis. Heterozygote and homozygote odds ratios (ORs) were OR = 0.98 (95% CI 0.94, 1.01; P = 0.2) and OR = 0.80 (95% CI 0.69, 0.93; P = 0.004), respectively (P-trend = 0.02). There was no evidence of effect modification by tumor characteristics. rs10235235 was, however, associated with age at menarche in controls (P-trend = 0.005) but not cases (P-trend = 0.97). Consequently the association between rs10235235 and breast cancer risk differed according to age at menarche (P-het = 0.02); the rare allele of rs10235235 was associated with a reduction in breast cancer risk for women who had their menarche age >= 15 years (ORhet = 0.84, 95% CI 0.75, 0.94; ORhom = 0.81, 95% CI 0.51, 1.30; P-trend = 0.002) but not for those who had their menarche age <= 11 years (ORhet = 1.06, 95% CI 0.95, 1.19, ORhom = 1.07, 95% CI 0.67, 1.72; P-trend = 0.29). Conclusions: To our knowledge rs10235235 is the first single nucleotide polymorphism to be associated with both breast cancer risk and age at menarche consistent with the well-documented association between later age

Published
2014

30. Genetic Predisposition to In Situ and Invasive Lobular Carcinoma of the Breast

Author

Sawyer, Elinor, Roylance, Rebecca, Petridis, Christos, Brook, Mark N., Nowinski, Salpie, Papouli, Efterpi, Fletcher, Olivia, Pinder, Sarah, Hanby, Andrew, Kohut, Kelly, Gorman, Patricia, Caneppele, Michele, Peto, Julian, Silva, Isabel dos Santos, Johnson, Nichola, Swann, Ruth, Dwek, Miriam, Perkins, Katherine-Anne, Gillett, Cheryl, Houlston, Richard, Ross, Gillian, De Ieso, Paolo, Southey, Melissa C., Hopper, John L., Provenzano, Elena, Apicella, Carmel, Wesseling, Jelle, Cornelissen, Sten, Keeman, Renske, Fasching, Peter A., Jud, Sebastian M., Ekici, Arif B., Beckmann, Matthias W., Kerin, Michael J., Marme, Federick, Schneeweiss, Andreas, Sohn, Christof, Burwinkel, Barbara, Guenel, Pascal, Truong, Therese, Laurent-Puig, Pierre, Kerbrat, Pierre, Bojesen, Stig E., Nordestgaard, Borge G., Nielsen, Sune F., Flyger, Henrik, Milne, Roger L., Perez, Jose Ignacio Arias, Menendez, Primitiva, Benitez, Javier, Brenner, Hermann, Dieffenbach, Aida Karina, Arndt, Volker, Stegmaier, Christa, Meindl, Alfons, Lichtner, Peter, Schmutzler, Rita K., Lochmann, Magdalena, Brauch, Hiltrud, Fischer, Hans-Peter, Ko, Yon-Dschun, Nevanlinna, Heli, Muranen, Taru A., Aittomaki, Kristiina, Blomqvist, Carl, Bogdanova, Natalia V., Dork, Thilo, Lindblom, Annika, Margolin, Sara, Mannermaa, Arto, Kataja, Vesa, Kosma, Veli-Matti, Hartikainen, Jaana M., Chenevix-Trench, Georgia, Lambrechts, Diether, Weltens, Caroline, Van Limbergen, Erik, Hatse, Sigrid, Chang-Claude, Jenny, Rudolph, Anja, Seibold, Petra, Flesch-Janys, Dieter, Radice, Paolo, Peterlongo, Paolo, Bonanni, Bernardo, Volorio, Sara, Giles, Graham G., Severi, Gianluca, Baglietto, Laura, Mclean, Catriona A., Haiman, Christopher A., Henderson, Brian E., Schumacher, Fredrick, Le Marchand, Loic, Simard, Jacques, Goldberg, Mark S., Labreche, France, Dumont, Martine, Kristensen, Vessela, Winqvist, Robert, Pylkas, Katri, Jukkola-Vuorinen, Arja, Kauppila, Saila, Andrulis, Irene L., Knight, Julia A., Glendon, Gord, Mulligan, Anna Marie, Devillee, Peter, Tollenaar, Rob A. E. M., Seynaeve, Caroline M., Kriege, Mieke, Figueroa, Jonine, Chanock, Stephen J., Sherman, Mark E., Hooning, Maartje J., Hollestelle, Antoinette, van den Ouweland, Ans M. W., van Deurzen, Carolien H. M., Li, Jingmei, Czene, Kamila, Humphreys, Keith, Cox, Angela, Cross, Simon S., Reed, Malcolm W. R., Shah, Mitul, Jakubowska, Anna, Lubinski, Jan, Jaworska-Bieniek, Katarzyna, Durda, Katarzyna, Swerdlow, Anthony, Ashworth, Alan, Orr, Nicholas, Schoemaker, Minouk, Couch, Fergus J., Hallberg, Emily, Gonzalez-Neira, Anna, Pita, Guillermo, Alonso, M. Rosario, Tessier, Daniel C., Vincent, Daniel, Bacot, Francois, Bolla, Manjeet K., Wang, Qin, Dennis, Joe, Michailidou, Kyriaki, Dunning, Alison M., Hall, Per, Easton, Doug, Pharoah, Paul, Schmidt, Marjanka K., Tomlinson, Ian, Garcia-Closas, Montserrat, Sawyer, Elinor, Roylance, Rebecca, Petridis, Christos, Brook, Mark N., Nowinski, Salpie, Papouli, Efterpi, Fletcher, Olivia, Pinder, Sarah, Hanby, Andrew, Kohut, Kelly, Gorman, Patricia, Caneppele, Michele, Peto, Julian, Silva, Isabel dos Santos, Johnson, Nichola, Swann, Ruth, Dwek, Miriam, Perkins, Katherine-Anne, Gillett, Cheryl, Houlston, Richard, Ross, Gillian, De Ieso, Paolo, Southey, Melissa C., Hopper, John L., Provenzano, Elena, Apicella, Carmel, Wesseling, Jelle, Cornelissen, Sten, Keeman, Renske, Fasching, Peter A., Jud, Sebastian M., Ekici, Arif B., Beckmann, Matthias W., Kerin, Michael J., Marme, Federick, Schneeweiss, Andreas, Sohn, Christof, Burwinkel, Barbara, Guenel, Pascal, Truong, Therese, Laurent-Puig, Pierre, Kerbrat, Pierre, Bojesen, Stig E., Nordestgaard, Borge G., Nielsen, Sune F., Flyger, Henrik, Milne, Roger L., Perez, Jose Ignacio Arias, Menendez, Primitiva, Benitez, Javier, Brenner, Hermann, Dieffenbach, Aida Karina, Arndt, Volker, Stegmaier, Christa, Meindl, Alfons, Lichtner, Peter, Schmutzler, Rita K., Lochmann, Magdalena, Brauch, Hiltrud, Fischer, Hans-Peter, Ko, Yon-Dschun, Nevanlinna, Heli, Muranen, Taru A., Aittomaki, Kristiina, Blomqvist, Carl, Bogdanova, Natalia V., Dork, Thilo, Lindblom, Annika, Margolin, Sara, Mannermaa, Arto, Kataja, Vesa, Kosma, Veli-Matti, Hartikainen, Jaana M., Chenevix-Trench, Georgia, Lambrechts, Diether, Weltens, Caroline, Van Limbergen, Erik, Hatse, Sigrid, Chang-Claude, Jenny, Rudolph, Anja, Seibold, Petra, Flesch-Janys, Dieter, Radice, Paolo, Peterlongo, Paolo, Bonanni, Bernardo, Volorio, Sara, Giles, Graham G., Severi, Gianluca, Baglietto, Laura, Mclean, Catriona A., Haiman, Christopher A., Henderson, Brian E., Schumacher, Fredrick, Le Marchand, Loic, Simard, Jacques, Goldberg, Mark S., Labreche, France, Dumont, Martine, Kristensen, Vessela, Winqvist, Robert, Pylkas, Katri, Jukkola-Vuorinen, Arja, Kauppila, Saila, Andrulis, Irene L., Knight, Julia A., Glendon, Gord, Mulligan, Anna Marie, Devillee, Peter, Tollenaar, Rob A. E. M., Seynaeve, Caroline M., Kriege, Mieke, Figueroa, Jonine, Chanock, Stephen J., Sherman, Mark E., Hooning, Maartje J., Hollestelle, Antoinette, van den Ouweland, Ans M. W., van Deurzen, Carolien H. M., Li, Jingmei, Czene, Kamila, Humphreys, Keith, Cox, Angela, Cross, Simon S., Reed, Malcolm W. R., Shah, Mitul, Jakubowska, Anna, Lubinski, Jan, Jaworska-Bieniek, Katarzyna, Durda, Katarzyna, Swerdlow, Anthony, Ashworth, Alan, Orr, Nicholas, Schoemaker, Minouk, Couch, Fergus J., Hallberg, Emily, Gonzalez-Neira, Anna, Pita, Guillermo, Alonso, M. Rosario, Tessier, Daniel C., Vincent, Daniel, Bacot, Francois, Bolla, Manjeet K., Wang, Qin, Dennis, Joe, Michailidou, Kyriaki, Dunning, Alison M., Hall, Per, Easton, Doug, Pharoah, Paul, Schmidt, Marjanka K., Tomlinson, Ian, and Garcia-Closas, Montserrat

Abstract

Invasive lobular breast cancer (ILC) accounts for 10-15% of all invasive breast carcinomas. It is generally ER positive (ER+) and often associated with lobular carcinoma in situ (LCIS). Genome-wide association studies have identified more than 70 common polymorphisms that predispose to breast cancer, but these studies included predominantly ductal (IDC) carcinomas. To identify novel common polymorphisms that predispose to ILC and LCIS, we pooled data from 6,023 cases (5,622 ILC, 401 pure LCIS) and 34,271 controls from 36 studies genotyped using the iCOGS chip. Six novel SNPs most strongly associated with ILC/LCIS in the pooled analysis were genotyped in a further 516 lobular cases (482 ILC, 36 LCIS) and 1,467 controls. These analyses identified a lobular-specific SNP at 7q34 (rs11977670, OR (95% CI) for ILC = 1.13 (1.09-1.18), P = 6.0x10(-10); P-het for ILC vs IDC ER+ tumors = 1.8x10(-4)). Of the 75 known breast cancer polymorphisms that were genotyped, 56 were associated with ILC and 15 with LCIS at P<0.05. Two SNPs showed significantly stronger associations for ILC than LCIS (rs2981579/10q26/FGFR2, P-het = 0.04 and rs889312/5q11/MAP3K1, P-het = 0.03); and two showed stronger associations for LCIS than ILC (rs6678914/1q32/LGR6, P-het = 0.001 and rs1752911/6q14, P-het = 0.04). In addition, seven of the 75 known loci showed significant differences between ER+ tumors with IDC and ILC histology, three of these showing stronger associations for ILC (rs11249433/1p11, rs2981579/10q26/FGFR2 and rs10995190/10q21/ZNF365) and four associated only with IDC (5p12/rs10941679; rs2588809/14q24/RAD51L1, rs6472903/8q21 and rs1550623/2q31/CDCA7). In conclusion, we have identified one novel lobular breast cancer specific predisposition polymorphism at 7q34, and shown for the first time that common breast cancer polymorphisms predispose to LCIS. We have shown that many of the ER+ breast cancer predisposition loci also predispose to ILC, although there is some heterogeneity between ER+

Published
2014

31. MicroRNA Related Polymorphisms and Breast Cancer Risk

Author

Khan, Sofia, Greco, Dario, Michailidou, Kyriaki, Milne, Roger L., Muranen, Taru A., Heikkinen, Tuomas, Aaltonen, Kirsimari, Dennis, Joe, Bolla, Manjeet K., Liu, Jianjun, Hall, Per, Irwanto, Astrid, Humphreys, Keith, Li, Jingmei, Czene, Kamila, Chang-Claude, Jenny, Hein, Rebecca, Rudolph, Anja, Seibold, Petra, Flesch-Janys, Dieter, Fletcher, Olivia, Peto, Julian, Silva, Isabel dos Santos, Johnson, Nichola, Gibson, Lorna, Aitken, Zoe, Hopper, John L., Tsimiklis, Helen, Bui, Minh, Makalic, Enes, Schmidt, Daniel F., Southey, Melissa C., Apicella, Carmel, Stone, Jennifer, Waisfisz, Quinten, Meijers-Heijboer, Hanne, Adank, Muriel A., van der Luijt, Rob B., Meindl, Alfons, Schmutzler, Rita K., Muller-Myhsok, Bertram, Lichtner, Peter, Turnbull, Clare, Rahman, Nazneen, Chanock, Stephen J., Hunter, David J., Cox, Angela, Cross, Simon S., Reed, Malcolm W. R., Schmidt, Marjanka K., Broeks, Annegien, Van't Veer, Laura J., Hogervorst, Frans B., Fasching, Peter A., Schrauder, Michael G., Ekici, Arif B., Beckmann, Matthias W., Bojesen, Stig E., Nordestgaard, Borge G., Nielsen, Sune F., Flyger, Henrik, Benitez, Javier, Zamora, Pilar M., Perez, Jose I. A., Haiman, Christopher A., Henderson, Brian E., Schumacher, Fredrick, Le Marchand, Loic, Pharoah, Paul D. P., Dunning, Alison M., Shah, Mitul, Luben, Robert, Brown, Judith, Couch, Fergus J., Wang, Xianshu, Vachon, Celine, Olson, Janet E., Lambrechts, Diether, Moisse, Matthieu, Paridaens, Robert, Christiaens, Marie-Rose, Guenel, Pascal, Truong, Therese, Laurent-Puig, Pierre, Mulot, Claire, Marme, Frederick, Burwinkel, Barbara, Schneeweiss, Andreas, Sohn, Christof, Sawyer, Elinor J., Tomlinson, Ian, Kerin, Michael J., Miller, Nicola, Andrulis, Irene L., Knight, Julia A., Tchatchou, Sandrine, Mulligan, Anna Marie, Dork, Thilo, Bogdanova, Natalia V., Antonenkova, Natalia N., Anton-Culver, Hoda, Darabi, Hatef, Eriksson, Mikael, Garcia-Closas, Montserrat, Figueroa, Jonine, Lissowska, Jolanta, Brinton, Louise, Devilee, Peter, Tollenaar, Robert A. E. M., Seynaeve, Caroline, van Asperen, Christi J., Kristensen, Vessela N., Slager, Susan, Toland, Amanda E., Ambrosone, Christine B., Yannoukakos, Drakoulis, Lindblom, Annika, Margolin, Sara, Radice, Paolo, Peterlongo, Paolo, Barile, Monica, Mariani, Paolo, Hooning, Maartje J., Martens, John W. M., Collee, J. Margriet, Jager, Agnes, Jakubowska, Anna, Lubinski, Jan, Jaworska-Bieniek, Katarzyna, Durda, Katarzyna, Giles, Graham G., McLean, Catriona, Brauch, Hiltrud, Bruning, Thomas, Ko, Yon-Dschun, Brenner, Hermann, Dieffenbach, Aida Karina, Arndt, Volker, Stegmaier, Christa, Swerdlow, Anthony, Ashworth, Alan, Orr, Nick, Jones, Michael, Simard, Jacques, Goldberg, Mark S., Labreche, France, Dumont, Martine, Winqvist, Robert, Pylkas, Katri, Jukkola-Vuorinen, Arja, Grip, Mervi, Kataja, Vesa, Kosma, Veli-Matti, Hartikainen, Jaana M., Mannermaa, Arto, Hamann, Ute, Chenevix-Trench, Georgia, Blomqvist, Carl, Aittomaki, Kristiina, Easton, Douglas F., Nevanlinna, Heli, Khan, Sofia, Greco, Dario, Michailidou, Kyriaki, Milne, Roger L., Muranen, Taru A., Heikkinen, Tuomas, Aaltonen, Kirsimari, Dennis, Joe, Bolla, Manjeet K., Liu, Jianjun, Hall, Per, Irwanto, Astrid, Humphreys, Keith, Li, Jingmei, Czene, Kamila, Chang-Claude, Jenny, Hein, Rebecca, Rudolph, Anja, Seibold, Petra, Flesch-Janys, Dieter, Fletcher, Olivia, Peto, Julian, Silva, Isabel dos Santos, Johnson, Nichola, Gibson, Lorna, Aitken, Zoe, Hopper, John L., Tsimiklis, Helen, Bui, Minh, Makalic, Enes, Schmidt, Daniel F., Southey, Melissa C., Apicella, Carmel, Stone, Jennifer, Waisfisz, Quinten, Meijers-Heijboer, Hanne, Adank, Muriel A., van der Luijt, Rob B., Meindl, Alfons, Schmutzler, Rita K., Muller-Myhsok, Bertram, Lichtner, Peter, Turnbull, Clare, Rahman, Nazneen, Chanock, Stephen J., Hunter, David J., Cox, Angela, Cross, Simon S., Reed, Malcolm W. R., Schmidt, Marjanka K., Broeks, Annegien, Van't Veer, Laura J., Hogervorst, Frans B., Fasching, Peter A., Schrauder, Michael G., Ekici, Arif B., Beckmann, Matthias W., Bojesen, Stig E., Nordestgaard, Borge G., Nielsen, Sune F., Flyger, Henrik, Benitez, Javier, Zamora, Pilar M., Perez, Jose I. A., Haiman, Christopher A., Henderson, Brian E., Schumacher, Fredrick, Le Marchand, Loic, Pharoah, Paul D. P., Dunning, Alison M., Shah, Mitul, Luben, Robert, Brown, Judith, Couch, Fergus J., Wang, Xianshu, Vachon, Celine, Olson, Janet E., Lambrechts, Diether, Moisse, Matthieu, Paridaens, Robert, Christiaens, Marie-Rose, Guenel, Pascal, Truong, Therese, Laurent-Puig, Pierre, Mulot, Claire, Marme, Frederick, Burwinkel, Barbara, Schneeweiss, Andreas, Sohn, Christof, Sawyer, Elinor J., Tomlinson, Ian, Kerin, Michael J., Miller, Nicola, Andrulis, Irene L., Knight, Julia A., Tchatchou, Sandrine, Mulligan, Anna Marie, Dork, Thilo, Bogdanova, Natalia V., Antonenkova, Natalia N., Anton-Culver, Hoda, Darabi, Hatef, Eriksson, Mikael, Garcia-Closas, Montserrat, Figueroa, Jonine, Lissowska, Jolanta, Brinton, Louise, Devilee, Peter, Tollenaar, Robert A. E. M., Seynaeve, Caroline, van Asperen, Christi J., Kristensen, Vessela N., Slager, Susan, Toland, Amanda E., Ambrosone, Christine B., Yannoukakos, Drakoulis, Lindblom, Annika, Margolin, Sara, Radice, Paolo, Peterlongo, Paolo, Barile, Monica, Mariani, Paolo, Hooning, Maartje J., Martens, John W. M., Collee, J. Margriet, Jager, Agnes, Jakubowska, Anna, Lubinski, Jan, Jaworska-Bieniek, Katarzyna, Durda, Katarzyna, Giles, Graham G., McLean, Catriona, Brauch, Hiltrud, Bruning, Thomas, Ko, Yon-Dschun, Brenner, Hermann, Dieffenbach, Aida Karina, Arndt, Volker, Stegmaier, Christa, Swerdlow, Anthony, Ashworth, Alan, Orr, Nick, Jones, Michael, Simard, Jacques, Goldberg, Mark S., Labreche, France, Dumont, Martine, Winqvist, Robert, Pylkas, Katri, Jukkola-Vuorinen, Arja, Grip, Mervi, Kataja, Vesa, Kosma, Veli-Matti, Hartikainen, Jaana M., Mannermaa, Arto, Hamann, Ute, Chenevix-Trench, Georgia, Blomqvist, Carl, Aittomaki, Kristiina, Easton, Douglas F., and Nevanlinna, Heli

Abstract

Genetic variations, such as single nucleotide polymorphisms (SNPs) in microRNAs (miRNA) or in the miRNA binding sites may affect the miRNA dependent gene expression regulation, which has been implicated in various cancers, including breast cancer, and may alter individual susceptibility to cancer. We investigated associations between miRNA related SNPs and breast cancer risk. First we evaluated 2,196 SNPs in a case-control study combining nine genome wide association studies (GWAS). Second, we further investigated 42 SNPs with suggestive evidence for association using 41,785 cases and 41,880 controls from 41 studies included in the Breast Cancer Association Consortium (BCAC). Combining the GWAS and BCAC data within a meta-analysis, we estimated main effects on breast cancer risk as well as risks for estrogen receptor (ER) and age defined subgroups. Five miRNA binding site SNPs associated significantly with breast cancer risk: rs1045494 (odds ratio (OR) 0.92; 95% confidence interval (CI): 0.88-0.96), rs1052532 (OR 0.97; 95% CI: 0.95-0.99), rs10719 (OR 0.97; 95% CI: 0.94-0.99), rs4687554 (OR 0.97; 95% CI: 0.95-0.99, and rs3134615 (OR 1.03; 95% CI: 1.01-1.05) located in the 3' UTR of CASP8, HDDC3, DROSHA, MUSTN1, and MYCL1, respectively. DROSHA belongs to miRNA machinery genes and has a central role in initial miRNA processing. The remaining genes are involved in different molecular functions, including apoptosis and gene expression regulation. Further studies are warranted to elucidate whether the miRNA binding site SNPs are the causative variants for the observed risk effects.

Published
2014

33. Climate Change and Occupational Health and Safety in a Temperate Climate : Potential Impacts and Research Priorities in Quebec, Canada

Author

Adam-Poupart, Ariane, Labreche, France, Smargiassi, Audrey, Duguay, Patrice, Busque, Marc-Antoine, Gagne, Charles, Rintamaki, Hannu, Kjellström, Tord, Zayed, Joseph, Adam-Poupart, Ariane, Labreche, France, Smargiassi, Audrey, Duguay, Patrice, Busque, Marc-Antoine, Gagne, Charles, Rintamaki, Hannu, Kjellström, Tord, and Zayed, Joseph

Abstract

The potential impacts of climate change (CC) on Occupational Health and Safety (OHS) have been studied a little in tropical countries, while they received no attention in northern industrialized countries with a temperate climate. This work aimed to establish an overview of the potential links between CC and OHS in those countries and to determine research priorities for Quebec, Canada. A narrative review of the scientific literature (2005-2010) was presented to a working group of international and national experts and stakeholders during a workshop held in 2010. The working group was invited to identify knowledge gaps, and a modified Delphi method helped prioritize research avenues. This process highlighted five categories of hazards that are likely to impact OHS in northern industrialized countries: heat waves/increased temperatures, air pollutants, UV radiation, extreme weather events, vector-borne/zoonotic diseases. These hazards will affect working activities related to natural resources (i.e. agriculture, fishing and forestry) and may influence the socioeconomic context (built environment and green industries), thus indirectly modifying OHS. From this consensus approach, three categories of research were identified: 1) Knowledge acquisition on hazards, target populations and methods of adaptation; 2) Surveillance of diseases/accidents/occupational hazards; and 3) Development of new occupational adaptation strategies.

Published
2013
Full Text
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34. Multiple independent variants at the TERT locus are associated with telomere length and risks of breast and ovarian cancer

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, Johnstonw, 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, Truong, Therese, 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., 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, Johnstonw, 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, Truong, Therese, 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, and Dunning, Alison M.

Abstract

TERT-locus SNPs and leukocyte telomere measures are reportedly associated with risks of multiple cancers. Using the Illumina custom genotyping array iCOG, we analyzed similar to 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 x 10(-7)), lower risks for estrogen receptor (ER)-negative (P = 1.0 x 10(-8)) and BRCA1 mutation carrier (P = 1.1 x 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 x 10(-14)), higher risk of low-malignant-potential ovarian cancer (P = 1.3 x 10(-15)) and greater promoter activity. The minor alleles at the peak 3 SNPs rs10069690 and rs2242652 increase ER-negative (P = 1.2 x 10(-12)) and BRCA1 mutation carrier (P = 1.6 x 10-14) breast and invasive ovarian (P = 1.3 x 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.

Published
2013
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35. Fine-Scale Mapping of the FGFR2 Breast Cancer Risk Locus: Putative Functional Variants Differentially Bind FOXA1 and E2F1

Author

Meyer, Kerstin B., O'Reilly, Martin, Michailidou, Kyriaki, Carlebur, Saskia, Edwards, Stacey L., French, Juliet D., Prathalingham, Radhika, Dennis, Joe, Bolla, Manjeet K., Wang, Qin, de Santiago, Ines, Hopper, John L., Tsimiklis, Helen, Apicella, Carmel, Southey, Melissa C., Schmidt, Marjanka K., Broeks, Annegien, Van't Veer, Laura J., Hogervorst, Frans B., Muir, Kenneth, Lophatananon, Artitaya, Stewart-Brown, Sarah, Siriwanarangsan, Pornthep, Fasching, Peter A., Lux, Michael P., Ekici, Arif B., Beckmann, Matthias W., Peto, Julian, Silva, Isabel dos Santos, Fletcher, Olivia, Johnson, Nichola, Sawyer, Elinor J., Tomlinson, Ian, Kerin, Michael J., Miller, Nicola, Marme, Federick, Schneeweiss, Andreas, Sohn, Christof, Burwinkel, Barbara, Guenel, Pascal, Truong, Therese, Laurent-Puig, Pierre, Menegaux, Florence, Bojesen, Stig E., Nordestgaard, Borge G., Nielsen, Sune F., Flyger, Henrik, Milne, Roger L., Pilar Zamora, M., Arias, Jose I., Benitez, Javier, Neuhausen, Susan, Anton-Culver, Hoda, Ziogas, Argyrios, Dur, Christina C., Brenner, Hermann, Mueller, Heiko, Arndt, Volker, Stegmaier, Christa, Meindl, Alfons, Schmutzler, Rita K., Engel, Christoph, Ditsch, Nina, Brauch, Hiltrud, Bruening, Thomas, Ko, Yon-Dschun, Nevanlinna, Heli, Muranen, Taru A., Aittomaeki, Kristiina, Blomqvist, Carl, Matsuo, Keitaro, Ito, Hidemi, Iwata, Hiroji, Yatabe, Yasushi, Doerk, Thilo, Helbig, Sonja, Bogdanova, Natalia V., Lindblom, Annika, Margolin, Sara, Mannermaa, Arto, Kataja, Vesa, Kosma, Veli-Matti, Hartikainen, Jaana M., Chenevix-Trench, Georgia, Wu, Anna H., Tseng, Chiu-chen, Van Den Berg, David, Stram, Daniel O., Lambrechts, Diether, Thienpont, Bernard, Christiaens, Marie-Rose, Smeets, Ann, Chang-Claude, Jenny, Rudolph, Anja, Seibold, Petra, Flesch-Janys, Dieter, Radice, Paolo, Peterlongo, Paolo, Bonanni, Bernardo, Bernard, Loris, Couch, Fergus J., Olson, Janet E., Wang, Xianshu, Purrington, Kristen, Giles, Graham G., Severi, Gianluca, Baglietto, Laura, McLean, Catriona, Haiman, Christopher A., Henderson, Brian E., Schumacher, Fredrick, Le Marchand, Loic, Simard, Jacques, Goldberg, Mark S., Labreche, France, Dumont, Martine, Teo, Soo-Hwang, Yip, Cheng-Har, Phuah, Sze-Yee, Kristensen, Vessela, Alnaes, Grethe Grenaker, Borresen-Dale, Anne-Lise, Zheng, Wei, Deming-Halverson, Sandra, Shrubsole, Martha, Long, Jirong, Winqvist, Robert, Pylkaes, Katri, Jukkola-Vuorinen, Arja, Kauppila, Saila, Andrulis, Irene L., Knight, Julia A., Glendon, Gord, Tchatchou, Sandrine, Devilee, Peter, Tollenaar, Robert A. E. M., Seynaeve, Caroline M., Garcia-Closas, Montserrat, Figueroa, Jonine, Chanock, Stephen J., Lissowska, Jolanta, Czene, Kamila, Darabi, Hartef, Eriksson, Kimael, Hooning, Maartje J., Martens, John W. M., van den Ouweland, Ans M. W., van Deurzen, Carolien H. M., Hall, Per, Li, Jingmei, Liu, Jianjun, Humphreys, Keith, Shu, Xiao-Ou, Lu, Wei, Gao, Yu-Tang, Cai, Hui, Cox, Angela, Reed, Malcolm W. R., Blot, William, Signorello, Lisa B., Cai, Qiuyin, Pharoah, Paul D. P., Ghoussaini, Maya, Harrington, Patricia, Tyrer, Jonathan, Kang, Daehee, Choi, Ji-Yeob, Park, Sue K., Noh, Dong-Young, Hartman, Mikael, Hui, Miao, Lim, Wei-Yen, Buhari, Shaik A., Hamann, Ute, Foersti, Asta, Ruediger, Thomas, Ulmer, Hans-Ulrich, Jakubowska, Anna, Lubinski, Jan, Jaworska, Katarzyna, Durda, Katarzyna, Sangrajrang, Suleeporn, Gaborieau, Valerie, Brennan, Paul, Mckay, James, Vachon, Celine, Slager, Susan, Fostira, Florentia, Pilarski, Robert, Shen, Chen-Yang, Hsiung, Chia-Ni, Wu, Pei-Ei, Hou, Ming-Feng, Swerdlow, Anthony, Ashworth, Alan, Orr, Nick, Schoemaker, Minouk J., Ponder, Bruce A. J., Dunning, Alison M., Easton, Douglas F., Meyer, Kerstin B., O'Reilly, Martin, Michailidou, Kyriaki, Carlebur, Saskia, Edwards, Stacey L., French, Juliet D., Prathalingham, Radhika, Dennis, Joe, Bolla, Manjeet K., Wang, Qin, de Santiago, Ines, Hopper, John L., Tsimiklis, Helen, Apicella, Carmel, Southey, Melissa C., Schmidt, Marjanka K., Broeks, Annegien, Van't Veer, Laura J., Hogervorst, Frans B., Muir, Kenneth, Lophatananon, Artitaya, Stewart-Brown, Sarah, Siriwanarangsan, Pornthep, Fasching, Peter A., Lux, Michael P., Ekici, Arif B., Beckmann, Matthias W., Peto, Julian, Silva, Isabel dos Santos, Fletcher, Olivia, Johnson, Nichola, Sawyer, Elinor J., Tomlinson, Ian, Kerin, Michael J., Miller, Nicola, Marme, Federick, Schneeweiss, Andreas, Sohn, Christof, Burwinkel, Barbara, Guenel, Pascal, Truong, Therese, Laurent-Puig, Pierre, Menegaux, Florence, Bojesen, Stig E., Nordestgaard, Borge G., Nielsen, Sune F., Flyger, Henrik, Milne, Roger L., Pilar Zamora, M., Arias, Jose I., Benitez, Javier, Neuhausen, Susan, Anton-Culver, Hoda, Ziogas, Argyrios, Dur, Christina C., Brenner, Hermann, Mueller, Heiko, Arndt, Volker, Stegmaier, Christa, Meindl, Alfons, Schmutzler, Rita K., Engel, Christoph, Ditsch, Nina, Brauch, Hiltrud, Bruening, Thomas, Ko, Yon-Dschun, Nevanlinna, Heli, Muranen, Taru A., Aittomaeki, Kristiina, Blomqvist, Carl, Matsuo, Keitaro, Ito, Hidemi, Iwata, Hiroji, Yatabe, Yasushi, Doerk, Thilo, Helbig, Sonja, Bogdanova, Natalia V., Lindblom, Annika, Margolin, Sara, Mannermaa, Arto, Kataja, Vesa, Kosma, Veli-Matti, Hartikainen, Jaana M., Chenevix-Trench, Georgia, Wu, Anna H., Tseng, Chiu-chen, Van Den Berg, David, Stram, Daniel O., Lambrechts, Diether, Thienpont, Bernard, Christiaens, Marie-Rose, Smeets, Ann, Chang-Claude, Jenny, Rudolph, Anja, Seibold, Petra, Flesch-Janys, Dieter, Radice, Paolo, Peterlongo, Paolo, Bonanni, Bernardo, Bernard, Loris, Couch, Fergus J., Olson, Janet E., Wang, Xianshu, Purrington, Kristen, Giles, Graham G., Severi, Gianluca, Baglietto, Laura, McLean, Catriona, Haiman, Christopher A., Henderson, Brian E., Schumacher, Fredrick, Le Marchand, Loic, Simard, Jacques, Goldberg, Mark S., Labreche, France, Dumont, Martine, Teo, Soo-Hwang, Yip, Cheng-Har, Phuah, Sze-Yee, Kristensen, Vessela, Alnaes, Grethe Grenaker, Borresen-Dale, Anne-Lise, Zheng, Wei, Deming-Halverson, Sandra, Shrubsole, Martha, Long, Jirong, Winqvist, Robert, Pylkaes, Katri, Jukkola-Vuorinen, Arja, Kauppila, Saila, Andrulis, Irene L., Knight, Julia A., Glendon, Gord, Tchatchou, Sandrine, Devilee, Peter, Tollenaar, Robert A. E. M., Seynaeve, Caroline M., Garcia-Closas, Montserrat, Figueroa, Jonine, Chanock, Stephen J., Lissowska, Jolanta, Czene, Kamila, Darabi, Hartef, Eriksson, Kimael, Hooning, Maartje J., Martens, John W. M., van den Ouweland, Ans M. W., van Deurzen, Carolien H. M., Hall, Per, Li, Jingmei, Liu, Jianjun, Humphreys, Keith, Shu, Xiao-Ou, Lu, Wei, Gao, Yu-Tang, Cai, Hui, Cox, Angela, Reed, Malcolm W. R., Blot, William, Signorello, Lisa B., Cai, Qiuyin, Pharoah, Paul D. P., Ghoussaini, Maya, Harrington, Patricia, Tyrer, Jonathan, Kang, Daehee, Choi, Ji-Yeob, Park, Sue K., Noh, Dong-Young, Hartman, Mikael, Hui, Miao, Lim, Wei-Yen, Buhari, Shaik A., Hamann, Ute, Foersti, Asta, Ruediger, Thomas, Ulmer, Hans-Ulrich, Jakubowska, Anna, Lubinski, Jan, Jaworska, Katarzyna, Durda, Katarzyna, Sangrajrang, Suleeporn, Gaborieau, Valerie, Brennan, Paul, Mckay, James, Vachon, Celine, Slager, Susan, Fostira, Florentia, Pilarski, Robert, Shen, Chen-Yang, Hsiung, Chia-Ni, Wu, Pei-Ei, Hou, Ming-Feng, Swerdlow, Anthony, Ashworth, Alan, Orr, Nick, Schoemaker, Minouk J., Ponder, Bruce A. J., Dunning, Alison M., and Easton, Douglas F.

Abstract

The 10q26 locus in the second intron of FGFR2 is the locus most strongly associated with estrogen-receptor-positive breast cancer in genome-wide association studies. We conducted fine-scale mapping in case-control studies genotyped with a custom chip (iCOGS), comprising 41 studies (n = 89,050) of European ancestry, 9 Asian ancestry studies (n = 13,983), and 2 African ancestry studies (n = 2,028) from the Breast Cancer Association Consortium. We identified three statistically independent risk signals within the locus. Within risk signals 1 and 3, genetic analysis identified five and two variants, respectively, highly correlated with the most strongly associated SNPs. By using a combination of genetic fine mapping, data on DNase hypersensitivity, and electrophoretic mobility shift assays to study protein-DNA binding, we identified rs35054928, rs2981578, and rs45631563 as putative functional SNPs. Chromatin immunoprecipitation showed that FOXA1 preferentially bound to the risk-associated allele (C) of rs2981578 and was able to recruit ER alpha to this site in an allele-specific manner, whereas E2F1 preferentially bound the risk variant of rs35054928. The risk alleles were preferentially found in open chromatin and bound by Ser5 phosphorylated RNA polymerase II, suggesting that the risk alleles are associated with changes in transcription. Chromatin conformation capture demonstrated that the risk region was able to interact with the promoter of FGFR2, the likely target gene of this risk region. A role for FOXA1 in mediating breast cancer susceptibility at this locus is consistent with the finding that the FGFR2 risk locus primarily predisposes to estrogen-receptor-positive disease.

Published
2013

36. Fine-mapping identifies two additional breast cancer susceptibility loci at 9q31.2

Author

Orr, Nick, Dudbridge, Frank, Dryden, Nicola, Maguire, Sarah, Novo, Daniela, Perrakis, Eleni, Johnson, Nichola, Ghoussaini, Maya, Hopper, John L., Southey, Melissa C., Apicella, Carmel, Stone, Jennifer, Schmidt, Marjanka K., Broeks, Annegien, Van't Veer, Laura J., Hogervorst, Frans B., Fasching, Peter A., Haeberle, Lothar, Ekici, Arif B., Beckmann, Matthias W., Gibson, Lorna, Aitken, Zoe, Warren, Helen, Sawyer, Elinor, Tomlinson, Ian, Kerin, Michael J., Miller, Nicola, Burwinkel, Barbara, Marme, Frederik, Schneeweiss, Andreas, Sohn, Chistof, Guénel, Pascal, Truong, Thérèse, Cordina-Duverger, Emilie, Sanchez, Marie, Bojesen, Stig E., Nordestgaard, Børge G., Nielsen, Sune F., Flyger, Henrik, Benitez, Javier, Zamora, Maria Pilar, Arias Perez, Jose Ignacio, Menéndez, Primitiva, Anton-Culver, Hoda, Neuhausen, Susan L., Brenner, Hermann, Dieffenbach, Aida Karina, Arndt, Volker, Stegmaier, Christa, Hamann, Ute, Brauch, Hiltrud, Justenhoven, Christina, Brüning, Thomas, Ko, Yon-Dschun, Nevanlinna, Heli, Aittomäki, Kristiina, Blomqvist, Carl, Khan, Sofia, Bogdanova, Natalia, Dörk, Thilo, Lindblom, Annika, Margolin, Sara, Mannermaa, Arto, Kataja, Vesa, Kosma, Veli-Matti, Hartikainen, Jaana M., Chenevix-Trench, Georgia, Beesley, Jonathan, Lambrechts, Diether, Moisse, Matthieu, Floris, Guiseppe, Beuselinck, Benoit, Chang-Claude, Jenny, Rudolph, Anja, Seibold, Petra, Flesch-Janys, Dieter, Radice, Paolo, Peterlongo, Paolo, Peissel, Bernard, Pensotti, Valeria, Couch, Fergus J., Olson, Janet E., Slettedahl, Seth, Vachon, Celine, Giles, Graham G., Milne, Roger L., McLean, Catriona, Haiman, Christopher A., Henderson, Brian E., Schumacher, Fredrick, Le Marchand, Loic, Simard, Jacques, Goldberg, Mark S., Labrèche, France, Dumont, Martine, Kristensen, Vessela, Alnæs, Grethe Grenaker, Nord, Silje, Borresen-Dale, Anne-Lise, Zheng, Wei, Deming-Halverson, Sandra, Shrubsole, Martha, Long, Jirong, Winqvist, Robert, Pylkäs, Katri, Jukkola-Vuorinen, Arja, Grip, Mervi, Andrulis, Irene L., Knight, Julia A., Glendon, Gord, Tchatchou, Sandrine, Devilee, Peter, Tollenaar, Robertus A. E. M., Seynaeve, Caroline M., Van Asperen, Christi J., Garcia-Closas, Montserrat, Figueroa, Jonine, Chanock, Stephen J., Lissowska, Jolanta, Czene, Kamila, Darabi, Hatef, Eriksson, Mikael, Klevebring, Daniel, Hooning, Maartje J., Hollestelle, Antoinette, van Deurzen, Carolien H. M., Kriege, Mieke, Hall, Per, Li, Jingmei, Liu, Jianjun, Humphreys, Keith, Cox, Angela, Cross, Simon S., Reed, Malcolm W. R., Pharoah, Paul D. P., Dunning, Alison M., Shah, Mitul, Perkins, Barbara J., Jakubowska, Anna, Lubinski, Jan, Jaworska-Bieniek, Katarzyna, Durda, Katarzyna, Ashworth, Alan, Swerdlow, Anthony, Jones, Michael, Schoemaker, Minouk J., Meindl, Alfons, Schmutzler, Rita K., Olswold, Curtis, Slager, Susan, Toland, Amanda E., Yannoukakos, Drakoulis, Muir, Kenneth, Lophatananon, Artitaya, Stewart-Brown, Sarah, Siriwanarangsan, Pornthep, Matsuo, Keitaro, Ito, Hidema, Iwata, Hiroji, Ishiguro, Junko, Wu, Anna H., Tseng, Chiu-chen, Van Den Berg, David, Stram, Daniel O., Teo, Soo Hwang, Yip, Cheng Har, Kang, Peter, Ikram, Mohammad Kamran, Shu, Xiao-Ou, Lu, Wei, Gao, Yu-Tang, Cai, Hui, Kang, Daehee, Choi, Ji-Yeob, Park, Sue K., Noh, Dong-Young, Hartman, Mikael, Miao, Hui, Lim, Wei Yen, Lee, Soo Chin, Sangrajrang, Suleeporn, Gaborieau, Valerie, Brennan, Paul, Mckay, James, Wu, Pei-Ei, Hou, Ming-Feng, Yu, Jyh-Cherng, Shen, Chen-Yang, Blot, William, Cai, Qiuyin, Signorello, Lisa B., Luccarini, Craig, Bayes, Caroline, Ahmed, Shahana, Maranian, Mel, Healey, Catherine S., González-Neira, Anna, Pita, Guillermo, Alonso, M. Rosario, Álvarez, Nuria, Herrero, Daniel, Tessier, Daniel C., Vincent, Daniel, Bacot, Francois, Hunter, David J., Lindstrom, Sara, Dennis, Joe, Michailidou, Kyriaki, Bolla, Manjeet K., Easton, Douglas F., dos Santos Silva, Isabel, Fletcher, Olivia, and Peto, Julian

Abstract

We recently identified a novel susceptibility variant, rs865686, for estrogen-receptor positive breast cancer at 9q31.2. Here, we report a fine-mapping analysis of the 9q31.2 susceptibility locus using 43 160 cases and 42 600 controls of European ancestry ascertained from 52 studies and a further 5795 cases and 6624 controls of Asian ancestry from nine studies. Single nucleotide polymorphism (SNP) rs676256 was most strongly associated with risk in Europeans (odds ratios [OR] = 0.90 [0.88–0.92]; P-value = 1.58 × 10−25). This SNP is one of a cluster of highly correlated variants, including rs865686, that spans ∼14.5 kb. We identified two additional independent association signals demarcated by SNPs rs10816625 (OR = 1.12 [1.08–1.17]; P-value = 7.89 × 10−09) and rs13294895 (OR = 1.09 [1.06–1.12]; P-value = 2.97 × 10−11). SNP rs10816625, but not rs13294895, was also associated with risk of breast cancer in Asian individuals (OR = 1.12 [1.06–1.18]; P-value = 2.77 × 10−05). Functional genomic annotation using data derived from breast cancer cell-line models indicates that these SNPs localise to putative enhancer elements that bind known drivers of hormone-dependent breast cancer, including ER-α, FOXA1 and GATA-3. In vitro analyses indicate that rs10816625 and rs13294895 have allele-specific effects on enhancer activity and suggest chromatin interactions with the KLF4 gene locus. These results demonstrate the power of dense genotyping in large studies to identify independent susceptibility variants. Analysis of associations using subjects with different ancestry, combined with bioinformatic and genomic characterisation, can provide strong evidence for the likely causative alleles and their functional basis.

Published
2015
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37. Physician based surveillance system for occupational respiratory diseases: the experience of PROPULSE, Quebec, Canada.

Author

Labreche, France P.

Subjects
INDUSTRIAL hygiene
Abstract

To evaluate the feasibility of implementing a physician based surveillance system of occupational respiratory diseases (PROPULSE) in Quebec with regard to physician participation rate, characteristics of reported cases, and comparison with official statistics from the Workers' Compensation Board (WCB). All chest physicians and allergists in Quebec were asked to report suspected new cases of occupational respiratory diseases, on a monthly basis, between October 1992 and September 1993. For each case, personal information was collected and the physician's opinion on whether the condition was related to work was categorised as highly likely, likely, and unlikely. Of the 161 physicians initially approached, 68% participated. Physicians rated 48% of suspected cases as highly likely, 29% as likely, and 20% as unlikely. The most often reported diagnosis was asthma (63%), followed by diseases related to asbestos (16%). Silicosis was less frequent (5%) but it was reported for six workers under 40 of whom five were involved in sandblasting activities. The high proportion of cases of asthma probably reflects the increasing importance of this disease but may also reflect the different patterns of reporting among physicians with different expertise. The distribution of cases by diagnostic category is quite different between the PROPULSE system and that of the WCB (annual mean number of compensated cases during a four year period). Asthmaand allergic alveolitis are more frequent in PROPULSE, reactive airways dysfunction syndrome are about the same in both systems, and other diseases are more frequent among compensated cases. T'he most frequent sensitising agents reported for asthma were the same in both systems (isocyanates, flour, and wood dust). 15% of the PROPULSE cases were not covered by the WCB, and therefore would not be found in the board's official statistics. A physician based reporting procedure can be implemented as part of a surveillance system to supplement data fro [ABSTRACT FROM AUTHOR]

Published
1997

38. Occupational risk factors for female breast cancer: a review.

Author

Labreche, France, Goldberg, Mark S., Goldberg, M S, and Labrèche, F

Subjects
HUMAN beings, RISK assessment, THRESHOLD limit values (Industrial toxicology)
Abstract

Objectives: Although progress has been made in identifying personal risk factors and in improving treatment for female breast cancer, incidence rates continue to increase. With women now occupying a sizable fraction of the workforce, it is worth inquiring whether there are occupational risk factors for breast cancer. This is a review of occupational studies on female breast cancer.Methods: Suitable reports and published articles with associations of female breast cancer and occupation were identified from technical reports, by searching the MEDLINE bibliographic data base, and by reviewing each paper on cancer that was published in 20 major journals during the period from about 1971-94.Results: A total of 115 studies were identified; 19 studies relied exclusively on data collected for administrative purposes, and there were four incident case-control studies and 92 cohort studies. Although data for individual industries, occupations, and exposures were sparse, there was limited evidence of an association with employment in the pharmaceutical industry and among cosmetologists and beauticians. Associations were also found for chemists and occupations with possible exposure to extremely low frequency electromagnetic fields, but potential methodological weaknesses preclude drawing any definite conclusions. There was little support for increased risks among textiles workers, dry cleaning workers, and nuclear industry workers.Conclusions: Few high quality occupational studies directed specifically toward women have been carried out to allow the unambiguous identification of occupational risk factors for breast cancer. It is suggested that investigations that account for non-occupational risk factors and that assess exposure in a more detailed way be carried out. One strategy already suggested is to conduct population based, case-control studies in which subjects are interviewed about their occupational histories and exposure to chemical and physical agents which are then attributed from the job descriptions by a team of experts. These studies can then be supplemented when necessary with cohort studies of specific populations. [ABSTRACT FROM AUTHOR]

Published
1996
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39. Multiple independent variants at the TERT locus are associated with telomere length and risks of breast and ovarian cancer

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, 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 William, Gibson, Lorna, Terry, Kathryn Lynne, Fletcher, Olivia, Vitonis, Allison F, van der Schoot, C Ellen, Poole, Elizabeth M., Hogervorst, Frans B L, Tworoger, Shelley Slate, 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 Ellen, 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, and Dunning, Alison M

Abstract

TERT-locus single nucleotide polymorphisms (SNPs) and leucocyte telomere measures are reportedly associated with risks of multiple cancers. Using the iCOGs chip, we analysed ~480 TERT-locus SNPs in breast (n=103,991), ovarian (n=39,774) and BRCA1 mutation carrier (11,705) cancer cases and controls. 53,724 participants have leucocyte telomere measures. Most associations cluster into three independent peaks. Peak 1 SNP rs2736108 minor allele associates with longer telomeres (P=5.8×10−7), reduced estrogen receptor negative (ER-negative) (P=1.0×10−8) and BRCA1 mutation carrier (P=1.1×10−5) breast cancer risks, and altered promoter-assay signal. Peak 2 SNP rs7705526 minor allele associates with longer telomeres (P=2.3×10−14), increased low malignant potential ovarian cancer risk (P=1.3×10−15) and increased promoter activity. Peak 3 SNPs rs10069690 and rs2242652 minor alleles 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.

Published
2013
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40. Genetic variation in mitotic regulatory pathway genes is associated with breast tumor grade

Author

Pontificia Universidad Javeriana. Facultad de Medicina. Instituto de Genética Humana, Torres, Diana, Purrington, Kristen S., Slettedahl, Seth, Bolla, Manjeet K., Michailidou, Kyriaki, Czene, Kamila, Nevanlinna, Heli, Bojesen, Stig E., Andrulis, Irene L., Cox, Angela, Hall, Per, Carpenter, Jane, Yannoukakos, Drakoulis, Haiman, Christopher A., Fasching, Peter A., Mannermaa, Arto, Winqvist, Robert, Brenner, Hermann, Lindblom, Annika, Chenevix-Trench, Georgia, Benitez, Javier, Swerdlow, Anthony, Kristensen, Vessela, Guenel, Pascal, Meindl, Alfons, Darabi, Hatef, Eriksson, Mikael, Fagerholm, Rainer, Aittomaki, Kristiina, Blomqvist, Carl, Nordestgaard, Borge G., Nielsen, Sune F., Flyger, Henrik, Wang, Xianshu, Olswold, Curtis, Olson, Janet E., Mulligan, Anna Marie, Knight, Julia A., Tchatchou, Sandrine, Reed, Malcolm W. R., Cross, Simon S., Liu, Jianjun, Li, Jingmei, Humphreys, Keith, Clarke, Christine, Scott, Rodney, Fostira, Florentia, Fountzilas, George, Konstantopoulou, Irene, Henderson, Brian E., Schumacher, Fredrick, Le Marchand, Loic, Ekici, Arif B., Hartmann, Arndt, Beckmann, Matthias W., Hartikainen, Jaana M., Kosma, Veli-Matti, Kataja, Vesa, Jukkola-Vuorinen, Arja, Pylkas, Katri, Kauppila, Saila, Dieffenbach, Aida Karina, Stegmaier, Christa, Arndt, Volker, Margolin, Sara, Balleine, Rosemary, Arias Perez, Jose Ignacio, Pilar Zamora, M., Menendez, Primitiva, Ashworth, Alan, Jones, Michael, Orr, Nick, Arveux, Patrick, Kerbrat, Pierre, Therese Truong, Bugert, Peter, Toland, Amanda E., Ambrosone, Christine B., Labreche, France, Goldberg, Mark S., Dumont, Martine, Ziogas, Argyrios, Lee, Eunjung, Dite, Gillian S., Apicella, Carmel, Southey, Melissa C., Long, Jirong, Shrubsole, Martha, Deming-Halverson, Sandra, Ficarazzi, Filomena, Barile, Monica, Peterlongo, Paolo, Durda, Katarzyna, Jaworska Bieniek, Katarzyna, Tollenaar, Robert A. E. M., Seynaeve, Caroline, Ko, Yon Dschun, Van Deurzen, Carolien H. M., Martens, John W. M., Kriege, Mieke, Figueroa, Jonine D., Chanock, Stephen J., Lissowska, Jolanta, Tomlinson, Ian, Kerin, Michael J., Miller, Nicola, Schneeweiss, Andreas, Tapper, William J., Gerty, Susan M., Durcan, Lorraine, Mclean, Catriona, Milne, Roger L., Baglietto, Laura, Silva, Isabel dos Santos, Fletcher, Olivia, Johnson, Nichola, Van'T Veer, Laura J., Cornelissen, Sten, Rudolph, Anja, Flesch-Janys, Dieter, Nickels, Stefan, Weltens, Caroline, Floris, Giuseppe, Moisse, Matthieu, Dennis, Joe, Wang, Qin, Dunning, Alison M., Shah, Mitul, Brown, Judith, Simard, Jacques, Anton-Culver, Hoda, Neuhausen, Susan L., Hopper, John L., Bogdanova, Natalia, Doerk, Thilo, Zheng, Wei, Radice, Paolo, Jakubowska, Anna, Lubinski, Jan, Devillee, Peter, Brauch, Hiltrud, Hooning, Maartje, Garcia Closas, Montserrat, Sawyer, Elinor, Burwinkel, Barbara, Marmee, Frederick, Eccles, Diana M., Giles, Graham G., Peto, Julian, Schmidt, Marjanka, Broeks, Annegien, Hamann, Ute, Lambrechts, Diether, Chang Claude, Jenny, Pharoah, Paul D. P., Easton, Douglas, Pankratz, V. Shane, Slager, Susan, Vachon, Celine M., Couch, Fergus J., Försti, Asta, ABCTB Investigators, Australian Ovarian Cancer Study Group, kConFab Investigators, The GENICA Network, Brüning, Thomas, Rüdiger, Thomas, Pontificia Universidad Javeriana. Facultad de Medicina. Instituto de Genética Humana, Torres, Diana, Purrington, Kristen S., Slettedahl, Seth, Bolla, Manjeet K., Michailidou, Kyriaki, Czene, Kamila, Nevanlinna, Heli, Bojesen, Stig E., Andrulis, Irene L., Cox, Angela, Hall, Per, Carpenter, Jane, Yannoukakos, Drakoulis, Haiman, Christopher A., Fasching, Peter A., Mannermaa, Arto, Winqvist, Robert, Brenner, Hermann, Lindblom, Annika, Chenevix-Trench, Georgia, Benitez, Javier, Swerdlow, Anthony, Kristensen, Vessela, Guenel, Pascal, Meindl, Alfons, Darabi, Hatef, Eriksson, Mikael, Fagerholm, Rainer, Aittomaki, Kristiina, Blomqvist, Carl, Nordestgaard, Borge G., Nielsen, Sune F., Flyger, Henrik, Wang, Xianshu, Olswold, Curtis, Olson, Janet E., Mulligan, Anna Marie, Knight, Julia A., Tchatchou, Sandrine, Reed, Malcolm W. R., Cross, Simon S., Liu, Jianjun, Li, Jingmei, Humphreys, Keith, Clarke, Christine, Scott, Rodney, Fostira, Florentia, Fountzilas, George, Konstantopoulou, Irene, Henderson, Brian E., Schumacher, Fredrick, Le Marchand, Loic, Ekici, Arif B., Hartmann, Arndt, Beckmann, Matthias W., Hartikainen, Jaana M., Kosma, Veli-Matti, Kataja, Vesa, Jukkola-Vuorinen, Arja, Pylkas, Katri, Kauppila, Saila, Dieffenbach, Aida Karina, Stegmaier, Christa, Arndt, Volker, Margolin, Sara, Balleine, Rosemary, Arias Perez, Jose Ignacio, Pilar Zamora, M., Menendez, Primitiva, Ashworth, Alan, Jones, Michael, Orr, Nick, Arveux, Patrick, Kerbrat, Pierre, Therese Truong, Bugert, Peter, Toland, Amanda E., Ambrosone, Christine B., Labreche, France, Goldberg, Mark S., Dumont, Martine, Ziogas, Argyrios, Lee, Eunjung, Dite, Gillian S., Apicella, Carmel, Southey, Melissa C., Long, Jirong, Shrubsole, Martha, Deming-Halverson, Sandra, Ficarazzi, Filomena, Barile, Monica, Peterlongo, Paolo, Durda, Katarzyna, Jaworska Bieniek, Katarzyna, Tollenaar, Robert A. E. M., Seynaeve, Caroline, Ko, Yon Dschun, Van Deurzen, Carolien H. M., Martens, John W. M., Kriege, Mieke, Figueroa, Jonine D., Chanock, Stephen J., Lissowska, Jolanta, Tomlinson, Ian, Kerin, Michael J., Miller, Nicola, Schneeweiss, Andreas, Tapper, William J., Gerty, Susan M., Durcan, Lorraine, Mclean, Catriona, Milne, Roger L., Baglietto, Laura, Silva, Isabel dos Santos, Fletcher, Olivia, Johnson, Nichola, Van'T Veer, Laura J., Cornelissen, Sten, Rudolph, Anja, Flesch-Janys, Dieter, Nickels, Stefan, Weltens, Caroline, Floris, Giuseppe, Moisse, Matthieu, Dennis, Joe, Wang, Qin, Dunning, Alison M., Shah, Mitul, Brown, Judith, Simard, Jacques, Anton-Culver, Hoda, Neuhausen, Susan L., Hopper, John L., Bogdanova, Natalia, Doerk, Thilo, Zheng, Wei, Radice, Paolo, Jakubowska, Anna, Lubinski, Jan, Devillee, Peter, Brauch, Hiltrud, Hooning, Maartje, Garcia Closas, Montserrat, Sawyer, Elinor, Burwinkel, Barbara, Marmee, Frederick, Eccles, Diana M., Giles, Graham G., Peto, Julian, Schmidt, Marjanka, Broeks, Annegien, Hamann, Ute, Lambrechts, Diether, Chang Claude, Jenny, Pharoah, Paul D. P., Easton, Douglas, Pankratz, V. Shane, Slager, Susan, Vachon, Celine M., Couch, Fergus J., Försti, Asta, ABCTB Investigators, Australian Ovarian Cancer Study Group, kConFab Investigators, The GENICA Network, Brüning, Thomas, and Rüdiger, Thomas

41. Inherited variants in the inner centromere protein (INCENP) gene of the chromosomal passenger complex contribute to the susceptibility of ER-negative breast cancer

Author

Pontificia Universidad Javeriana. Facultad de Medicina. Instituto de Genética Humana, Tórres López, Diana María, Kabisch, Maria, Bermejo, Justo Lorenzo, Duennebier, Thomas, Ying, Shibo, Michailidou, Kyriaki, Bolla, Manjeet K., Wang, Qin, Dennis, Joe, Shah, Mitul, Perkins, Barbara J., Czene, Kamila, Darabi, Hatef, Eriksson, Mikael, Bojesen, Stig Egil, Nordestgaard, Borge G., Nielsen, Sune Fallgaard, Flyger, Henrik, Lambrechts, Diether, Neven, Patrick, Peeters, Stephanie, Weltens, Caroline, Couch, Fergus J., Olson, Janet E., Wang, Xianshu, Purrington, Kristen, Rudolph, Anja, Seibold, Petra, Peto, Julian, Johnson, Nichola, Fletcher, Olivia, Nevanlinna, Heli, Muranen, Taru Annika, Aittomaki, Kristiina, Blomqvist, Carl, Schmidt, Marjanka K., Broeks, Annegien, Cornelissen, Sten, Hogervorst, Frans B. L., Li, Jingmei, Brand, Judith S., Humphreys, Keith, Guenel, Pascal, Truong, Therese, Menegaux, Florence, Sanchez, Marie, Burwinkel, Barbara, Marme, Frederik, Yang, Rongxi, Bugert, Peter, Gonzalez-Neira, Anna, Benitez, Javier, Zamora Auñón, María del Pilar, Arias Perez, Jose Ignacio, Cox, Angela, Cross, Simon S., Reed, Malcolm W. R., Andrulis, Irene L., Knight, Julia Alexandra, Glendon, Gord, Tchatchou, Sandrine, Sawyer, Elinor J., Tomlinson, Ian, Kerin, Michael J., Miller, Nicola, Haiman, Christopher A., Schumacher, Fredrick, Henderson, Brian E., Le Marchand, Loic, Lindblom, Annika, Margolin, Sara, Hooning, Maartje J., Hollestelle, Antoinette, Kriege, Mieke, Koppert, Linetta B., Hopper, John L., Southey, Melissa C., Tsimiklis, Helen, Apicella, Carmel, Slettedahl, Seth Seth, Toland, Amanda E., Vachon, Celine, Yannoukakos, Drakoulis, Giles, Graham G., Milne, Roger L., McLean, Catriona, Fasching, Peter A., Ruebner, Matthias, Ekici, Arif Bülent, Beckmann, Matthias W., Brenner, Hermann, Dieffenbach, Aida Karina, Arndt, Volker, Stegmaier, Christa, Ashworth, Alan, Orr, Nicholas, Schoemaker, Minouk J., Swerdlow, Anthony, Figueroa, Jonine, Chanock, Stephen Jacob, Lissowska, Jolanta, Goldberg, Mark S., Labreche, France, Dumont, Martine, Winqvist, Robert, Pylkas, Katri, Grip, Mervi, Brauch, Hiltrud, Bruening, Thomas, Chang Claude, Jenny, Flesch Janys, Dieter, dos Santos Silva, Isabel, Garcia Closas, Montserrat, Jukkola Vuorinen, Arja, Ko, Yon-Dschun, Radice, Paolo, Peterlongo, Paolo, Scuvera, Giulietta, Fortuzzi, Stefano, Bogdanova, Natalia, Doerk, Thilo, Mannermaa, Arto, Kataja, Vesa, Kosma, Veli-Matti, Hartikainen, Jaana M., Devilee, Peter, Tollenaar, Robert A. E. M., Seynaeve, Caroline, Van Asperen, Christi J., Jakubowska, Anna, Lubinski, Jan, Jaworska Bieniek, Katarzyna, Durda, Katarzyna, Zheng, Wei, Shrubsole, Martha J., Cai, Qiuyin, Anton Culver, Hoda, Kristensen, Vessela, Bacot, Francois, Tessier, Daniel C., Vincent, Daniel, Luccarini, Craig, Baynes, Caroline, Ahmed, Shahana, Maranian, Mel, Simard, Jacques, Chenevix Trench, Georgia, Hall, Per, Pharoah, Paul D. P., Dunning, Alison M., Easton, Douglas F., Hamann, Ute, Pontificia Universidad Javeriana. Facultad de Medicina. Instituto de Genética Humana, Tórres López, Diana María, Kabisch, Maria, Bermejo, Justo Lorenzo, Duennebier, Thomas, Ying, Shibo, Michailidou, Kyriaki, Bolla, Manjeet K., Wang, Qin, Dennis, Joe, Shah, Mitul, Perkins, Barbara J., Czene, Kamila, Darabi, Hatef, Eriksson, Mikael, Bojesen, Stig Egil, Nordestgaard, Borge G., Nielsen, Sune Fallgaard, Flyger, Henrik, Lambrechts, Diether, Neven, Patrick, Peeters, Stephanie, Weltens, Caroline, Couch, Fergus J., Olson, Janet E., Wang, Xianshu, Purrington, Kristen, Rudolph, Anja, Seibold, Petra, Peto, Julian, Johnson, Nichola, Fletcher, Olivia, Nevanlinna, Heli, Muranen, Taru Annika, Aittomaki, Kristiina, Blomqvist, Carl, Schmidt, Marjanka K., Broeks, Annegien, Cornelissen, Sten, Hogervorst, Frans B. L., Li, Jingmei, Brand, Judith S., Humphreys, Keith, Guenel, Pascal, Truong, Therese, Menegaux, Florence, Sanchez, Marie, Burwinkel, Barbara, Marme, Frederik, Yang, Rongxi, Bugert, Peter, Gonzalez-Neira, Anna, Benitez, Javier, Zamora Auñón, María del Pilar, Arias Perez, Jose Ignacio, Cox, Angela, Cross, Simon S., Reed, Malcolm W. R., Andrulis, Irene L., Knight, Julia Alexandra, Glendon, Gord, Tchatchou, Sandrine, Sawyer, Elinor J., Tomlinson, Ian, Kerin, Michael J., Miller, Nicola, Haiman, Christopher A., Schumacher, Fredrick, Henderson, Brian E., Le Marchand, Loic, Lindblom, Annika, Margolin, Sara, Hooning, Maartje J., Hollestelle, Antoinette, Kriege, Mieke, Koppert, Linetta B., Hopper, John L., Southey, Melissa C., Tsimiklis, Helen, Apicella, Carmel, Slettedahl, Seth Seth, Toland, Amanda E., Vachon, Celine, Yannoukakos, Drakoulis, Giles, Graham G., Milne, Roger L., McLean, Catriona, Fasching, Peter A., Ruebner, Matthias, Ekici, Arif Bülent, Beckmann, Matthias W., Brenner, Hermann, Dieffenbach, Aida Karina, Arndt, Volker, Stegmaier, Christa, Ashworth, Alan, Orr, Nicholas, Schoemaker, Minouk J., Swerdlow, Anthony, Figueroa, Jonine, Chanock, Stephen Jacob, Lissowska, Jolanta, Goldberg, Mark S., Labreche, France, Dumont, Martine, Winqvist, Robert, Pylkas, Katri, Grip, Mervi, Brauch, Hiltrud, Bruening, Thomas, Chang Claude, Jenny, Flesch Janys, Dieter, dos Santos Silva, Isabel, Garcia Closas, Montserrat, Jukkola Vuorinen, Arja, Ko, Yon-Dschun, Radice, Paolo, Peterlongo, Paolo, Scuvera, Giulietta, Fortuzzi, Stefano, Bogdanova, Natalia, Doerk, Thilo, Mannermaa, Arto, Kataja, Vesa, Kosma, Veli-Matti, Hartikainen, Jaana M., Devilee, Peter, Tollenaar, Robert A. E. M., Seynaeve, Caroline, Van Asperen, Christi J., Jakubowska, Anna, Lubinski, Jan, Jaworska Bieniek, Katarzyna, Durda, Katarzyna, Zheng, Wei, Shrubsole, Martha J., Cai, Qiuyin, Anton Culver, Hoda, Kristensen, Vessela, Bacot, Francois, Tessier, Daniel C., Vincent, Daniel, Luccarini, Craig, Baynes, Caroline, Ahmed, Shahana, Maranian, Mel, Simard, Jacques, Chenevix Trench, Georgia, Hall, Per, Pharoah, Paul D. P., Dunning, Alison M., Easton, Douglas F., and Hamann, Ute

42. Fine-scale mapping of the 5q11.2 breast cancer locus reveals at least three independent risk variants regulating map3k1

Author

Pontificia Universidad Javeriana. Facultad de Medicina. Instituto de Genética Humana, Glubb, Dylan M., Maranian, Mel J., Michailidou, Kyriaki, Pooley, Karen A., Meyer, Kerstin B., Kar, Siddhartha, Carlebur, Saskia, O'Reilly, Martin, Betts, Joshua A., Hillman, Kristine M., Kaufmann, Susanne, Beesley, Jonathan, Canisius, Sander, Hopper, John L., Southey, Melissa C., Tsimiklis, Helen, Apicella, Carmel, Schmidt, Marjanka K., Broeks, Annegien, Hogervorst, Frans B., van der Schoot, C. Ellen, Muir, Kenneth, Lophatananon, Artitaya, Stewart Brown, Sarah, Siriwanarangsan, Pornthep, Fasching, Peter A., Ruebner, Matthias, Ekici, Arif B., Beckmann, Matthias W., Peto, Julian, Dos Santos Silva, Isabel, Fletcher, Olivia, Johnson, Nichola, Pharoah, Paul D. P., Bolla, Manjeet K., Wang, Qin, Dennis, Joe, Sawyer, Elinor J., Tomlinson, Ian, Kerin, Michael J., Miller, Nicola, Burwinkel, Barbara, Marme, Frederik, Yang, Rongxi, Surowy, Harald, Guenel, Pascal, Truong, Therese, Menegaux, Florence, Sanchez, Marie, Bojesen, Stig E., Nordestgaard, Borge G., Nielsen, Sune F., Flyger, Henrik, Gonzalez Neira, Anna, Benitez, Javier, Pilar Zamora, M., Arias Perez, Jose Ignacio, Anton Culver, Hoda, Neuhausen, Susan L., Brenner, Hermann, Dieffenbach, Aida Karina, Arndt, Volker, Stegmaier, Christa, Meindl, Alfons, Schmutzler, Rita K., Brauch, Hiltrud, Ko, Yon Dschun, Bruening, Thomas, Nevanlinna, Heli, Muranen, Taru A., Aittomaeki, Kristiina, Blomqvist, Carl, Matsuo, Keitaro, Ito, Hidemi, Iwata, Hiroji, Tanaka, Hideo, Doerk, Thilo, Bogdanova, Natalia V., Helbig, Sonja, Lindblom, Annika, Margolin, Sara, Mannermaa, Arto, Kataja, Vesa, Kosma, Veli Matti, Hartikainen, Jaana M., Wu, Anna H., Tseng, Chiu chen, Van den Berg, David, Stram, Daniel O., Lambrechts, Diether, Zhao, Hui, Weltens, Caroline, van Limbergen, Erik, Chang Claude, Jenny, Flesch Janys, Dieter, Rudolph, Anja, Seibold, Petra, Radice, Paolo, Peterlongo, Paolo, Barile, Monica, Capra, Fabio, Couch, Fergus J., Olson, Janet E., Hallberg, Emily, Vachon, Celine, Giles, Graham G., Milne, Roger L., McLean, Catriona, Haiman, Christopher A., Henderson, Brian E., Schumacher, Fredrick, Le Marchand, Loic, Simard, Jacques, Goldberg, Mark S., Labreche, France, Dumont, Martine, Teo, Soo Hwang, Yip, Cheng Har, See, Mee Hoong, Cornes, Belinda, Cheng, Ching Yu, Ikram, M. Kamran, Kristensen, Vessela, Zheng, Wei, Halverson, Sandra L., Shrubsole, Martha, Long, Jirong, Winqvist, Robert, Pylkaes, Katri, Jukkola Vuorinen, Arja, Kauppila, Saila, Andrulis, Irene L., Knight, Julia A., Glendon, Gord, Tchatchou, Sandrine, Devilee, Peter, Tollenaar, Robert A. E. M., Seynaeve, Caroline, Van Asperen, Christi J., Garcia Closas, Montserrat, Figueroa, Jonine, Chanock, Stephen J., Lissowska, Jolanta, Czene, Kamila, Klevebring, Daniel, Darabi, Hatef, Eriksson, Mikael, Hooning, Maartje J., Hollestelle, Antoinette, Martens, John W. M., Collee, J. Margriet, Hall, Per, Li, Jingmei, Humphreys, Keith, Shu, Xiao Ou, Lu, Wei, Gao, Yu Tang, Cai, Hui, Cox, Angela, Cross, Simon S., Reed, Malcolm W. R., Blot, William, Signorello, Lisa B., Cai, Qiuyin, Shah, Mitul, Ghoussaini, Maya, Kang, Daehee, Choi, Ji Yeob, Park, Sue K., Noh, Dong Young, Hartman, Mikael, Miao, Hui, Lim, Wei Yen, Tang, Anthony, Hamann, Ute, Tórres López, Diana María, Jakubowska, Anna, Lubinski, Jan, Jaworska, Katarzyna, Durda, Katarzyna, Sangrajrang, Suleeporn, Gaborieau, Valerie, Brennan, Paul, McKay, James, Olswold, Curtis, Slager, Susan, Toland, Amanda E., Yannoukakos, Drakoulis, Shen, Chen Yang, Wu, Pei Ei, Yu, Jyh Cherng, Hou, Ming Feng, Swerdlow, Anthony, Ashworth, Alan, Orr, Nick, Jones, Michael, Pita, Guillermo, Rosario Alonso, M., Alvarez, Nuria, Herrero, Daniel, Tessier, Daniel C., Vincent, Daniel, Bacot, Francois, Luccarini, Craig, Baynes, Caroline, Ahmed, Shahana, Healey, Catherine S., Brown, Melissa A., Ponder, Bruce A. J., Chenevix Trench, Georgia, Thompson, Deborah J., Edwards, Stacey L., Easton, Douglas F., Dunning, Alison M., French, Juliet D., The GENICA Network, kConFab Investigators, Norwegian Breast Cancer Study, Pontificia Universidad Javeriana. Facultad de Medicina. Instituto de Genética Humana, Glubb, Dylan M., Maranian, Mel J., Michailidou, Kyriaki, Pooley, Karen A., Meyer, Kerstin B., Kar, Siddhartha, Carlebur, Saskia, O'Reilly, Martin, Betts, Joshua A., Hillman, Kristine M., Kaufmann, Susanne, Beesley, Jonathan, Canisius, Sander, Hopper, John L., Southey, Melissa C., Tsimiklis, Helen, Apicella, Carmel, Schmidt, Marjanka K., Broeks, Annegien, Hogervorst, Frans B., van der Schoot, C. Ellen, Muir, Kenneth, Lophatananon, Artitaya, Stewart Brown, Sarah, Siriwanarangsan, Pornthep, Fasching, Peter A., Ruebner, Matthias, Ekici, Arif B., Beckmann, Matthias W., Peto, Julian, Dos Santos Silva, Isabel, Fletcher, Olivia, Johnson, Nichola, Pharoah, Paul D. P., Bolla, Manjeet K., Wang, Qin, Dennis, Joe, Sawyer, Elinor J., Tomlinson, Ian, Kerin, Michael J., Miller, Nicola, Burwinkel, Barbara, Marme, Frederik, Yang, Rongxi, Surowy, Harald, Guenel, Pascal, Truong, Therese, Menegaux, Florence, Sanchez, Marie, Bojesen, Stig E., Nordestgaard, Borge G., Nielsen, Sune F., Flyger, Henrik, Gonzalez Neira, Anna, Benitez, Javier, Pilar Zamora, M., Arias Perez, Jose Ignacio, Anton Culver, Hoda, Neuhausen, Susan L., Brenner, Hermann, Dieffenbach, Aida Karina, Arndt, Volker, Stegmaier, Christa, Meindl, Alfons, Schmutzler, Rita K., Brauch, Hiltrud, Ko, Yon Dschun, Bruening, Thomas, Nevanlinna, Heli, Muranen, Taru A., Aittomaeki, Kristiina, Blomqvist, Carl, Matsuo, Keitaro, Ito, Hidemi, Iwata, Hiroji, Tanaka, Hideo, Doerk, Thilo, Bogdanova, Natalia V., Helbig, Sonja, Lindblom, Annika, Margolin, Sara, Mannermaa, Arto, Kataja, Vesa, Kosma, Veli Matti, Hartikainen, Jaana M., Wu, Anna H., Tseng, Chiu chen, Van den Berg, David, Stram, Daniel O., Lambrechts, Diether, Zhao, Hui, Weltens, Caroline, van Limbergen, Erik, Chang Claude, Jenny, Flesch Janys, Dieter, Rudolph, Anja, Seibold, Petra, Radice, Paolo, Peterlongo, Paolo, Barile, Monica, Capra, Fabio, Couch, Fergus J., Olson, Janet E., Hallberg, Emily, Vachon, Celine, Giles, Graham G., Milne, Roger L., McLean, Catriona, Haiman, Christopher A., Henderson, Brian E., Schumacher, Fredrick, Le Marchand, Loic, Simard, Jacques, Goldberg, Mark S., Labreche, France, Dumont, Martine, Teo, Soo Hwang, Yip, Cheng Har, See, Mee Hoong, Cornes, Belinda, Cheng, Ching Yu, Ikram, M. Kamran, Kristensen, Vessela, Zheng, Wei, Halverson, Sandra L., Shrubsole, Martha, Long, Jirong, Winqvist, Robert, Pylkaes, Katri, Jukkola Vuorinen, Arja, Kauppila, Saila, Andrulis, Irene L., Knight, Julia A., Glendon, Gord, Tchatchou, Sandrine, Devilee, Peter, Tollenaar, Robert A. E. M., Seynaeve, Caroline, Van Asperen, Christi J., Garcia Closas, Montserrat, Figueroa, Jonine, Chanock, Stephen J., Lissowska, Jolanta, Czene, Kamila, Klevebring, Daniel, Darabi, Hatef, Eriksson, Mikael, Hooning, Maartje J., Hollestelle, Antoinette, Martens, John W. M., Collee, J. Margriet, Hall, Per, Li, Jingmei, Humphreys, Keith, Shu, Xiao Ou, Lu, Wei, Gao, Yu Tang, Cai, Hui, Cox, Angela, Cross, Simon S., Reed, Malcolm W. R., Blot, William, Signorello, Lisa B., Cai, Qiuyin, Shah, Mitul, Ghoussaini, Maya, Kang, Daehee, Choi, Ji Yeob, Park, Sue K., Noh, Dong Young, Hartman, Mikael, Miao, Hui, Lim, Wei Yen, Tang, Anthony, Hamann, Ute, Tórres López, Diana María, Jakubowska, Anna, Lubinski, Jan, Jaworska, Katarzyna, Durda, Katarzyna, Sangrajrang, Suleeporn, Gaborieau, Valerie, Brennan, Paul, McKay, James, Olswold, Curtis, Slager, Susan, Toland, Amanda E., Yannoukakos, Drakoulis, Shen, Chen Yang, Wu, Pei Ei, Yu, Jyh Cherng, Hou, Ming Feng, Swerdlow, Anthony, Ashworth, Alan, Orr, Nick, Jones, Michael, Pita, Guillermo, Rosario Alonso, M., Alvarez, Nuria, Herrero, Daniel, Tessier, Daniel C., Vincent, Daniel, Bacot, Francois, Luccarini, Craig, Baynes, Caroline, Ahmed, Shahana, Healey, Catherine S., Brown, Melissa A., Ponder, Bruce A. J., Chenevix Trench, Georgia, Thompson, Deborah J., Edwards, Stacey L., Easton, Douglas F., Dunning, Alison M., French, Juliet D., The GENICA Network, kConFab Investigators, and Norwegian Breast Cancer Study

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