Please use this identifier to cite or link to this item:
https://doi.org/10.1038/ng.3521
| Title: | Breast cancer risk variants at 6q25 display different phenotype associations and regulate ESR1, RMND1 and CCDC170 | Authors: | Dunning, Alison M Michailidou, Kyriaki Kuchenbaecker, Karoline B Thompson, Deborah French, Juliet D Beesley, Jonathan Healey, Catherine S Kar, Siddhartha Pooley, Karen A Lopez-Knowles, Elena Dicks, Ed Barrowdale, Daniel Sinnott-Armstrong, Nicholas A Sallari, Richard C Hillman, Kristine M Kaufmann, Susanne Sivakumaran, Haran Marjaneh, Mahdi Moradi Lee, Jason S Hills, Margaret Jarosz, Monika Drury, Suzie Canisius, Sander Bolla, Manjeet K Dennis, Joe Wang, Qin Hopper, John L Southey, Melissa C Broeks, Annegien Schmidt, Marjanka K Lophatananon, Artitaya Muir, Kenneth Beckmann, Matthias W Fasching, Peter A dos-Santos-Silva, Isabel Peto, Julian Sawyer, Elinor J Tomlinson, Ian Burwinkel, Barbara Marme, Frederik Guenel, Pascal Truong, Therese Bojesen, Stig E Flyger, Henrik Gonzalez-Neira, Anna Perez, Jose IA Anton-Culver, Hoda Eunjung, Lee Arndt, Volker Brenner, Hermann Meindl, Alfons Schmutzler, Rita K Brauch, Hiltrud Hamann, Ute Aittomaki, Kristiina Blomqvist, Carl Ito, Hidemi Matsuo, Keitaro Bogdanova, Natasha Dork, Thilo Lindblom, Annika Margolin, Sara Kosma, Veli-Matti Mannermaa, Arto Tseng, Chiu-chen Wu, Anna H Lambrechts, Diether Wildiers, Hans Chang-Claude, Jenny Rudolph, Anja Peterlongo, Paolo Radice, Paolo Olson, Janet E Giles, Graham G Milne, Roger L Haiman, Christopher A Henderson, Brian E Goldberg, Mark S Teo, Soo H Yip, Cheng Har Nord, Silje Borresen-Dale, Anne-Lise Kristensen, Vessela Long, Jirong Zheng, Wei Pylkas, Katri Winqvist, Robert Andrulis, Irene L Knight, Julia A Devilee, Peter Seynaeve, Caroline Figueroa, Jonine Sherman, Mark E Czene, Kamila Darabi, Hatef Hollestelle, Antoinette van den Ouweland, Ans MW Humphreys, Keith Gao, Yu-Tang Shu, Xiao-Ou Cox, Angela Cross, Simon S Blot, William Cai, Qiuyin Ghoussaini, Maya Perkins, Barbara J Shah, Mitul Choi, Ji-Yeob Kang, Daehee Lee, Soo Chin Hartman, Mikael Kabisch, Maria Torres, Diana Jakubowska, Anna Lubinski, Jan Brennan, Paul Sangrajrang, Suleeporn Ambrosone, Christine B Toland, Amanda E Shen, Chen-Yang Wu, Pei-Ei Orr, Nick Swerdlow, Anthony McGuffog, Lesley Healey, Sue Lee, Andrew Kapuscinski, Miroslav John, Esther M Terry, Mary Beth Daly, Mary B Goldgar, David E Buys, Saundra S Janavicius, Ramunas Tihomirova, Laima Tung, Nadine Dorfling, Cecilia M van Rensburg, Elizabeth J Neuhausen, Susan L Ejlertsen, Bent Hansen, Thomas VO Osorio, Ana Benitez, Javier Rando, Rachel Weitzel, Jeffrey N Bonanni, Bernardo Peissel, Bernard Manoukian, Siranoush Papi, Laura Ottini, Laura Konstantopoulou, Irene Apostolou, Paraskevi Garber, Judy Rashid, Muhammad Usman Frost, Debra Izatt, Louise Ellis, Steve Godwin, Andrew K Arnold, Norbert Niederacher, Dieter Rhiem, Kerstin Bogdanova-Markov, Nadja Sagne, Charlotte Stoppa-Lyonnet, Dominique Damiola, Francesca Sinilnikova, Olga M Mazoyer, Sylvie Isaacs, Claudine Claes, Kathleen BM De Leeneer, Kim De la Hoya, Miguel Caldes, Trinidad Nevanlinna, Heli Khan, Sofia Mensenkamp, Arjen R Hooning, Maartje J Rookus, Matti A Kwong, Ava Olah, Edith Diez, Orland Brunet, Joan Pujana, Miquel Angel Gronwald, Jacek Huzarski, Tomasz Barkardottir, Rosa B Laframboise, Rachel Soucy, Penny Montagna, Marco Agata, Simona Teixeira, Manuel R Park, Sue Kyung Lindor, Noralane Couch, Fergus J Tischkowitz, Marc Foretova, Lenka Vijai, Joseph Offit, Kenneth Singer, Christian F Rappaport, Christine Phelan, Catherine M Greene, Mark H Mai, Phuong L Rennert, Gad Imyanitov, Evgeny N Hulick, Peter J Phillips, Kelly-Anne Piedmonte, Marion Mulligan, Anna Marie Glendon, Gord Bojesen, Anders Thomassen, Mads Caligo, Maria A Yoon, Sook-Yee Friedman, Eitan Laitman, Yael Borg, Ake Von Wachenfeldt, Anna Ehrencrona, Hans Rantala, Johanna Olopade, Olufunmilayo I Ganz, Patricia A Nussbaum, Robert L Gayther, Simon A Nathanson, Katherine L Domchek, Susan M Arun, Banu K Mitchell, Gillian Karlan, Beth Y Lester, Jenny Maskarinec, Gertraud Woolcott, Christy Scott, Christopher Stone, Jennifer Apicella, Carmel Tamimi, Rulla Luben, Robert Khaw, Kay-Tee Helland, Aslaug Haakensen, Vilde Dowsett, Mitch Pharoah, Paul DP Simard, Jacques Hall, Per Garcia-Closas, Montserrat Vachon, Celine Chenevix-Trench, Georgia Antoniou, Antonis C Easton, Douglas F Edwards, Stacey L |
Keywords: | Science & Technology Life Sciences & Biomedicine Genetics & Heredity GENOME-WIDE ASSOCIATION BRCA2 MUTATION CARRIERS BONE-MINERAL DENSITY MAMMOGRAPHIC DENSITY SUSCEPTIBILITY LOCUS METAANALYSIS MODIFIERS REVEALS DISEASE WOMEN |
Issue Date: | 1-Apr-2016 | Publisher: | NATURE PUBLISHING GROUP | Citation: | Dunning, Alison M, Michailidou, Kyriaki, Kuchenbaecker, Karoline B, Thompson, Deborah, French, Juliet D, Beesley, Jonathan, Healey, Catherine S, Kar, Siddhartha, Pooley, Karen A, Lopez-Knowles, Elena, Dicks, Ed, Barrowdale, Daniel, Sinnott-Armstrong, Nicholas A, Sallari, Richard C, Hillman, Kristine M, Kaufmann, Susanne, Sivakumaran, Haran, Marjaneh, Mahdi Moradi, Lee, Jason S, Hills, Margaret, Jarosz, Monika, Drury, Suzie, Canisius, Sander, Bolla, Manjeet K, Dennis, Joe, Wang, Qin, Hopper, John L, Southey, Melissa C, Broeks, Annegien, Schmidt, Marjanka K, Lophatananon, Artitaya, Muir, Kenneth, Beckmann, Matthias W, Fasching, Peter A, dos-Santos-Silva, Isabel, Peto, Julian, Sawyer, Elinor J, Tomlinson, Ian, Burwinkel, Barbara, Marme, Frederik, Guenel, Pascal, Truong, Therese, Bojesen, Stig E, Flyger, Henrik, Gonzalez-Neira, Anna, Perez, Jose IA, Anton-Culver, Hoda, Eunjung, Lee, Arndt, Volker, Brenner, Hermann, Meindl, Alfons, Schmutzler, Rita K, Brauch, Hiltrud, Hamann, Ute, Aittomaki, Kristiina, Blomqvist, Carl, Ito, Hidemi, Matsuo, Keitaro, Bogdanova, Natasha, Dork, Thilo, Lindblom, Annika, Margolin, Sara, Kosma, Veli-Matti, Mannermaa, Arto, Tseng, Chiu-chen, Wu, Anna H, Lambrechts, Diether, Wildiers, Hans, Chang-Claude, Jenny, Rudolph, Anja, Peterlongo, Paolo, Radice, Paolo, Olson, Janet E, Giles, Graham G, Milne, Roger L, Haiman, Christopher A, Henderson, Brian E, Goldberg, Mark S, Teo, Soo H, Yip, Cheng Har, Nord, Silje, Borresen-Dale, Anne-Lise, Kristensen, Vessela, Long, Jirong, Zheng, Wei, Pylkas, Katri, Winqvist, Robert, Andrulis, Irene L, Knight, Julia A, Devilee, Peter, Seynaeve, Caroline, Figueroa, Jonine, Sherman, Mark E, Czene, Kamila, Darabi, Hatef, Hollestelle, Antoinette, van den Ouweland, Ans MW, Humphreys, Keith, Gao, Yu-Tang, Shu, Xiao-Ou, Cox, Angela, Cross, Simon S, Blot, William, Cai, Qiuyin, Ghoussaini, Maya, Perkins, Barbara J, Shah, Mitul, Choi, Ji-Yeob, Kang, Daehee, Lee, Soo Chin, Hartman, Mikael, Kabisch, Maria, Torres, Diana, Jakubowska, Anna, Lubinski, Jan, Brennan, Paul, Sangrajrang, Suleeporn, Ambrosone, Christine B, Toland, Amanda E, Shen, Chen-Yang, Wu, Pei-Ei, Orr, Nick, Swerdlow, Anthony, McGuffog, Lesley, Healey, Sue, Lee, Andrew, Kapuscinski, Miroslav, John, Esther M, Terry, Mary Beth, Daly, Mary B, Goldgar, David E, Buys, Saundra S, Janavicius, Ramunas, Tihomirova, Laima, Tung, Nadine, Dorfling, Cecilia M, van Rensburg, Elizabeth J, Neuhausen, Susan L, Ejlertsen, Bent, Hansen, Thomas VO, Osorio, Ana, Benitez, Javier, Rando, Rachel, Weitzel, Jeffrey N, Bonanni, Bernardo, Peissel, Bernard, Manoukian, Siranoush, Papi, Laura, Ottini, Laura, Konstantopoulou, Irene, Apostolou, Paraskevi, Garber, Judy, Rashid, Muhammad Usman, Frost, Debra, Izatt, Louise, Ellis, Steve, Godwin, Andrew K, Arnold, Norbert, Niederacher, Dieter, Rhiem, Kerstin, Bogdanova-Markov, Nadja, Sagne, Charlotte, Stoppa-Lyonnet, Dominique, Damiola, Francesca, Sinilnikova, Olga M, Mazoyer, Sylvie, Isaacs, Claudine, Claes, Kathleen BM, De Leeneer, Kim, De la Hoya, Miguel, Caldes, Trinidad, Nevanlinna, Heli, Khan, Sofia, Mensenkamp, Arjen R, Hooning, Maartje J, Rookus, Matti A, Kwong, Ava, Olah, Edith, Diez, Orland, Brunet, Joan, Pujana, Miquel Angel, Gronwald, Jacek, Huzarski, Tomasz, Barkardottir, Rosa B, Laframboise, Rachel, Soucy, Penny, Montagna, Marco, Agata, Simona, Teixeira, Manuel R, Park, Sue Kyung, Lindor, Noralane, Couch, Fergus J, Tischkowitz, Marc, Foretova, Lenka, Vijai, Joseph, Offit, Kenneth, Singer, Christian F, Rappaport, Christine, Phelan, Catherine M, Greene, Mark H, Mai, Phuong L, Rennert, Gad, Imyanitov, Evgeny N, Hulick, Peter J, Phillips, Kelly-Anne, Piedmonte, Marion, Mulligan, Anna Marie, Glendon, Gord, Bojesen, Anders, Thomassen, Mads, Caligo, Maria A, Yoon, Sook-Yee, Friedman, Eitan, Laitman, Yael, Borg, Ake, Von Wachenfeldt, Anna, Ehrencrona, Hans, Rantala, Johanna, Olopade, Olufunmilayo I, Ganz, Patricia A, Nussbaum, Robert L, Gayther, Simon A, Nathanson, Katherine L, Domchek, Susan M, Arun, Banu K, Mitchell, Gillian, Karlan, Beth Y, Lester, Jenny, Maskarinec, Gertraud, Woolcott, Christy, Scott, Christopher, Stone, Jennifer, Apicella, Carmel, Tamimi, Rulla, Luben, Robert, Khaw, Kay-Tee, Helland, Aslaug, Haakensen, Vilde, Dowsett, Mitch, Pharoah, Paul DP, Simard, Jacques, Hall, Per, Garcia-Closas, Montserrat, Vachon, Celine, Chenevix-Trench, Georgia, Antoniou, Antonis C, Easton, Douglas F, Edwards, Stacey L (2016-04-01). Breast cancer risk variants at 6q25 display different phenotype associations and regulate ESR1, RMND1 and CCDC170. NATURE GENETICS 48 (4) : 374-+. ScholarBank@NUS Repository. https://doi.org/10.1038/ng.3521 | Abstract: | We analyzed 3,872 common genetic variants across the ESR1 locus (encoding estrogen receptor α) in 118,816 subjects from three international consortia. We found evidence for at least five independent causal variants, each associated with different phenotype sets, including estrogen receptor (ER + or ER -) and human ERBB2 (HER2 + or HER2 -) tumor subtypes, mammographic density and tumor grade. The best candidate causal variants for ER - tumors lie in four separate enhancer elements, and their risk alleles reduce expression of ESR1, RMND1 and CCDC170, whereas the risk alleles of the strongest candidates for the remaining independent causal variant disrupt a silencer element and putatively increase ESR1 and RMND1 expression. | Source Title: | NATURE GENETICS | URI: | https://scholarbank.nus.edu.sg/handle/10635/209236 | ISSN: | 10614036 15461718 |
DOI: | 10.1038/ng.3521 |
| Appears in Collections: | Staff Publications Elements |
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