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

Autor: 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, Guénel, Pascal, Truong, Thérèse, Menegaux, Florence, Sanchez, Marie, Bojesen, Stig E., Nordestgaard, Børge G., Nielsen, Sune F., Flyger, Henrik, González-Neira, Anna, Benitez, Javier, Zamora, M. Pilar, 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, Brüning, Thomas, Nevanlinna, Heli, Muranen, Taru A., Aittomäki, Kristiina, Blomqvist, Carl, Matsuo, Keitaro, Ito, Hidemi, Iwata, Hiroji, Tanaka, Hideo, Dörk, 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., Labrèche, 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, Pylkäs, 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., García-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., Collée, 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, Alonso, M. Rosario, Álvarez, 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.

Publikováno v: In The American Journal of Human Genetics 8 January 2015 96(1):5-20

Functional Variants at the 11q13 Risk Locus for Breast Cancer Regulate Cyclin D1 Expression through Long-Range Enhancers

Autor: French, Juliet D., Ghoussaini, Maya, Edwards, Stacey L., Meyer, Kerstin B., Michailidou, Kyriaki, Ahmed, Shahana, Khan, Sofia, Maranian, Mel J., O’Reilly, Martin, Hillman, Kristine M., Betts, Joshua A., Carroll, Thomas, Bailey, Peter J., Dicks, Ed, Beesley, Jonathan, Tyrer, Jonathan, Maia, Ana-Teresa, Beck, Andrew, Knoblauch, Nicholas W., Chen, Constance, Kraft, Peter, Barnes, Daniel, González-Neira, Anna, Alonso, M. Rosario, Herrero, Daniel, Tessier, Daniel C., Vincent, Daniel, Bacot, Francois, Luccarini, Craig, Baynes, Caroline, Conroy, Don, Dennis, Joe, Bolla, Manjeet K., Wang, Qin, Hopper, John L., Southey, Melissa C., Schmidt, Marjanka K., Broeks, Annegien, Verhoef, Senno, Cornelissen, Sten, Muir, Kenneth, Lophatananon, Artitaya, Stewart-Brown, Sarah, Siriwanarangsan, Pornthep, Fasching, Peter A., Loehberg, Christian R., Ekici, Arif B., Beckmann, Matthias W., Peto, Julian, dos Santos Silva, Isabel, Johnson, Nichola, Aitken, Zoe, Sawyer, Elinor J., Tomlinson, Ian, Kerin, Michael J., Miller, Nicola, Marme, Frederik, Schneeweiss, Andreas, Sohn, Christof, Burwinkel, Barbara, Guénel, Pascal, Truong, Thérèse, Laurent-Puig, Pierre, Menegaux, Florence, Bojesen, Stig E., Nordestgaard, Børge G., Nielsen, Sune F., Flyger, Henrik, Milne, Roger L., Zamora, M. Pilar, Arias Perez, Jose Ignacio, Benitez, Javier, Anton-Culver, Hoda, Brenner, Hermann, Müller, Heiko, Arndt, Volker, Stegmaier, Christa, Meindl, Alfons, Lichtner, Peter, Schmutzler, Rita K., Engel, Christoph, Brauch, Hiltrud, Hamann, Ute, Justenhoven, Christina, Aaltonen, Kirsimari, Heikkilä, Päivi, Aittomäki, Kristiina, Blomqvist, Carl, Matsuo, Keitaro, Ito, Hidemi, Iwata, Hiroji, Sueta, Aiko, Bogdanova, Natalia V., Antonenkova, Natalia N., Dörk, 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., Lambrechts, Diether, Peeters, Stephanie, Smeets, Ann, Floris, Giuseppe, Chang-Claude, Jenny, Rudolph, Anja, Nickels, Stefan, Flesch-Janys, Dieter, Radice, Paolo, Peterlongo, Paolo, Bonanni, Bernardo, Sardella, Domenico, Couch, Fergus J., Wang, Xianshu, Pankratz, Vernon S., Lee, Adam, Giles, Graham G., Severi, Gianluca, Baglietto, Laura, Haiman, Christopher A., Henderson, Brian E., Schumacher, Fredrick, Le Marchand, Loic, Simard, Jacques, Goldberg, Mark S., Labrèche, France, Dumont, Martine, Teo, Soo Hwang, Yip, Cheng Har, Ng, Char-Hong, Vithana, Eranga Nishanthie, Kristensen, Vessela, 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, Mulligan, Anna Marie, Devilee, Peter, Seynaeve, Caroline, García-Closas, Montserrat, Figueroa, Jonine, Chanock, Stephen J., Lissowska, Jolanta, Czene, Kamila, Klevebring, Daniel, Schoof, Nils, Hooning, Maartje J., Martens, John W.M., Collée, J. Margriet, Tilanus-Linthorst, Madeleine, Hall, Per, Li, Jingmei, Liu, Jianjun, Humphreys, Keith, Shu, Xiao-Ou, Lu, Wei, Gao, Yu-Tang, Cai, Hui, Cox, Angela, Balasubramanian, Sabapathy P., Blot, William, Signorello, Lisa B., Cai, Qiuyin, Pharoah, Paul D.P., Healey, Catherine S., Shah, Mitul, Pooley, Karen A., Kang, Daehee, Yoo, Keun-Young, Noh, Dong-Young, Hartman, Mikael, Miao, Hui, Sng, Jen-Hwei, Sim, Xueling, Jakubowska, Anna, Lubinski, Jan, Jaworska-Bieniek, Katarzyna, Durda, Katarzyna, Sangrajrang, Suleeporn, Gaborieau, Valerie, McKay, James, Toland, Amanda E., Ambrosone, Christine B., Yannoukakos, Drakoulis, Godwin, Andrew K., Shen, Chen-Yang, Hsiung, Chia-Ni, Wu, Pei-Ei, Chen, Shou-Tung, Swerdlow, Anthony, Ashworth, Alan, Orr, Nick, Schoemaker, Minouk J., Ponder, Bruce A.J., Nevanlinna, Heli, Brown, Melissa A., Chenevix-Trench, Georgia, Easton, Douglas F., Dunning, Alison M.

Publikováno v: In The American Journal of Human Genetics 4 April 2013 92(4):489-503

Saliva samples are a viable alternative to blood samples as a source of DNA for high throughput genotyping

Autor: Abraham Jean E, Maranian Mel J, Spiteri Inmaculada, Russell Roslin, Ingle Susan, Luccarini Craig, Earl Helena M, Pharoah Paul PD, Dunning Alison M, Caldas Carlos

Publikováno v: BMC Medical Genomics, Vol 5, Iss 1, p 19 (2012)

Abstract Background The increasing trend for incorporation of biological sample collection within clinical trials requires sample collection procedures which are convenient and acceptable for both patients and clinicians. This study investigated the

Externí odkaz: https://doaj.org/article/ec892ec30f254150b33d22483caacf3b

CYP19A1 fine-mapping and Mendelian randomization

Autor: Thompson, Deborah J, O'Mara, Tracy A, Glubb, Dylan M, Painter, Jodie N, Cheng, Timothy, Folkerd, Elizabeth J, Doody, Deborah, Dennis, Joe, Webb, Penelope M, Gorman, Maggie, Martin, Lynn, Hodgson, Shirley, Michailidou, Kyriaki, Tyrer, Jonathan P, Maranian, Mel J, Hall, Per, Czene, Kamila, Darabi, Hatef, Li, Jingmei, Fasching, Peter A, Hein, Alexander, Beckmann, Matthias W, Ekici, Arif B, Doerk, Thilo, Hillemanns, Peter, Durst, Matthias, Runnebaum, Ingo, Zhao, Hui, Depreeuw, Jeroen, Schrauwen, Stefanie, Amant, Frederic, Goode, Ellen L, Fridley, Brooke L, Dowdy, Sean C, Winham, Stacey J, Salvesen, Helga B, Trovik, Jone, Njolstad, Tormund S, Werner, Henrica M J, Ashton, Katie, Proietto, Tony, Otton, Geoffrey, Carvajal-carmona, Luis, Tham, Emma, Liu, Tao, Mints, Miriam, Scott, Rodney J, McEvoy, Mark G, Attia, John R, Holliday, Elizabeth G, Montgomery, Grant W., Martin, Nicholas G., Nyholt, Dale R, Henders, Anjali K, Hopper, John L, Traficante, Nadia, Ruebner, Matthias, Swerdlow, Anthony J, Burwinkel, Barbara, Brenner, Hermann, Meindl, Alfons, Brauch, Hiltrud, Lindblom, Annika, Lambrechts, Diether, Chang-Claude, Jenny, Couch, Fergus J, Giles, Graham, Kristensen, Vessela N, Cox, Angela, Bolla, Manjeet K, Wang, Qin, Bojesen, Stig E, Shah, Mitul, Luben, Robert, Khaw, Kay-Tee, Pharoah, Paul P D, Dunning, Alison M, Tomlinson, Ian, Dowsett, Mitch, Easton, Douglas F, Spurdle, Amanda B

Publikováno v: Thompson, D J, O'Mara, T A, Glubb, D M, Painter, J N, Cheng, T, Folkerd, E J, Doody, D, Dennis, J, Webb, P M, Gorman, M, Martin, L, Hodgson, S, Michailidou, K, Tyrer, J P, Maranian, M J, Hall, P, Czene, K, Darabi, H, Li, J, Fasching, P A, Hein, A, Beckmann, M W, Ekici, A B, Doerk, T, Hillemanns, P, Durst, M, Runnebaum, I, Zhao, H, Depreeuw, J, Schrauwen, S, Amant, F, Goode, E L, Fridley, B L, Dowdy, S C, Winham, S J, Salvesen, H B, Trovik, J, Njolstad, T S, Werner, H M J, Ashton, K, Proietto, T, Otton, G, Carvajal-carmona, L, Tham, E, Liu, T, Mints, M, Scott, R J, McEvoy, M G, Attia, J R, Holliday, E G, Montgomery, G W, Martin, N G, Nyholt, D R, Henders, A K, Hopper, J L, Traficante, N, Ruebner, M, Swerdlow, A J, Burwinkel, B, Brenner, H, Meindl, A, Brauch, H, Lindblom, A, Lambrechts, D, Chang-Claude, J, Couch, F J, Giles, G, Kristensen, V N, Cox, A, Bolla, M K, Wang, Q, Bojesen, S E, Shah, M, Luben, R, Khaw, K-T, Pharoah, P P D, Dunning, A M, Tomlinson, I, Dowsett, M, Easton, D F & Spurdle, A B 2016, ' CYP19A1 fine-mapping and Mendelian randomization ', Endocrine-Related Cancer, vol. 23, pp. 77-91 . https://doi.org/10.1530/ERC-15-0386

Candidate gene studies have reported CYP19A1 variants to be associated with endometrial cancer and with estradiol (E2) concentrations. We analyzed 2937 single nucleotide polymorphisms (SNPs) in 6608 endometrial cancer cases and 37 925 controls and re

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=od______2751::b9fff2f6f34608934378104e2ca23abe
https://curis.ku.dk/ws/files/179630304/77.full.pdf

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

Autor: Rahman, Nazneen, Lush, Michael J, Bojesen, Stig E, Wang, Qin, Nordestgaard, Børge G, Maranian, Mel J, Turnbull, Clare, Bolla, Manjeet K, Shah, Mitul, Brand, Judith S, Darabi, Hatef, Lindstrom, Sara, Eilber, Ursula, Perkins, Barbara J, Nevanlinna, Heli, Beesley, Jonathan, Dennis, Joe, Nielsen, Sune F, Behrens, Sabine, Michailidou, Kyriaki, Flesch-Janys, Dieter, dos-Santos-Silva, Isabel, Czene, Kamila, Flyger, Henrik, Muranen, Taru A, Canisius, Sander, Chang-Claude, Jenny, Fletcher, Olivia, Eriksson, Mikael, Gibson, Lorna, Peto, Julian, Rudolph, Anja

Genome wide association studies (GWAS) and large scale replication studies have identified common variants in 79 loci associated with breast cancer, explaining ~14% of the familial risk of the disease. To identify new susceptibility loci, we performe

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::e1063ebdd764232fa12685f160c0f18e