Dunning, Alison M., Michailidou, Kyriaki ORCID: 0000-0001-7065-1237, 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 ORCID: 0000-0003-1661-3939, Sinnott-Armstrong, Nicholas A., Sallari, Richard C., Hillman, Kristine M., Kaufmann, Susanne, Sivakumaran, Haran ORCID: 0000-0002-4691-4989, 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 ORCID: 0000-0002-8359-518X, Truong, Therese, Bojesen, Stig E., Flyger, Henrik, Gonzalez-Neira, Anna ORCID: 0000-0002-5421-2020, Perez, Jose I. A., Anton-Culver, Hoda, Eunjung, Lee, Arndt, Volker ORCID: 0000-0001-9320-8684, Brenner, Hermann ORCID: 0000-0002-6129-1572, Meindl, Alfons, Schmutzler, Rita K., Brauch, Hiltrud ORCID: 0000-0001-7531-2736, Hamann, Ute, Aittomaki, Kristiina, Blomqvist, Carl ORCID: 0000-0003-3041-1938, Ito, Hidemi, Matsuo, Keitaro ORCID: 0000-0003-1761-6314, Bogdanova, Natasha, Dork, Thilo ORCID: 0000-0002-9458-0282, Lindblom, Annika, Margolin, Sara, Kosma, Veli-Matti, Mannermaa, Arto, Tseng, Chiu-chen, Wu, Anna H., Lambrechts, Diether ORCID: 0000-0002-3429-302X, Wildiers, Hans, Chang-Claude, Jenny, Rudolph, Anja, Peterlongo, Paolo ORCID: 0000-0001-6951-6855, Radice, Paolo ORCID: 0000-0001-6298-4111, 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 ORCID: 0000-0002-3271-5356, Borresen-Dale, Anne-Lise, Kristensen, Vessela, Long, Jirong ORCID: 0000-0002-7433-9766, Zheng, Wei ORCID: 0000-0003-1226-070X, Pylkas, Katri, Winqvist, Robert, Andrulis, Irene L., Knight, Julia A., Devilee, Peter ORCID: 0000-0002-8023-2009, Seynaeve, Caroline, Figueroa, Jonine, Sherman, Mark E., Czene, Kamila, Darabi, Hatef, Hollestelle, Antoinette ORCID: 0000-0003-1166-1966, van den Ouweland, Ans M. W., Humphreys, Keith, Gao, Yu-Tang, Shu, Xiao-Ou, Cox, Angela ORCID: 0000-0002-5138-1099, Cross, Simon S., Blot, William, Cai, Qiuyin, Ghoussaini, Maya, Perkins, Barbara J., Shah, Mitul, Choi, Ji-Yeob, Kang, Daehee, Lee, Soo Chin, Hartman, Mikael ORCID: 0000-0001-5726-9965, Kabisch, Maria, Torres, Diana, Jakubowska, Anna ORCID: 0000-0002-5650-0501, Lubinski, Jan ORCID: 0000-0003-2931-3003, Brennan, Paul, Sangrajrang, Suleeporn, Ambrosone, Christine B., Toland, Amanda E., Shen, Chen-Yang, Wu, Pei-Ei, Orr, Nick, Swerdlow, Anthony ORCID: 0000-0001-5550-4159, 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 V. O., Osorio, Ana ORCID: 0000-0001-8124-3984, Benitez, Javier, Rando, Rachel, Weitzel, Jeffrey N., Bonanni, Bernardo, Peissel, Bernard ORCID: 0000-0001-9233-3571, Manoukian, Siranoush, Papi, Laura ORCID: 0000-0003-4552-9517, Ottini, Laura, Konstantopoulou, Irene ORCID: 0000-0002-0470-0309, Apostolou, Paraskevi, Garber, Judy, Rashid, Muhammad Usman ORCID: 0000-0002-7684-3122, Frost, Debra, Izatt, Louise, Ellis, Steve, Godwin, Andrew K., Arnold, Norbert ORCID: 0000-0003-4523-8808, Niederacher, Dieter, Rhiem, Kerstin, Bogdanova-Markov, Nadja, Sagne, Charlotte, Stoppa-Lyonnet, Dominique, Damiola, Francesca ORCID: 0000-0002-0238-1252, Sinilnikova, Olga M., Mazoyer, Sylvie ORCID: 0000-0002-2135-0160, Isaacs, Claudine, Claes, Kathleen B. M., De Leeneer, Kim, De la Hoya, Miguel, Caldes, Trinidad, Nevanlinna, Heli, Khan, Sofia ORCID: 0000-0003-4185-8882, Mensenkamp, Arjen R., Hooning, Maartje J., Rookus, Matti A., Kwong, Ava ORCID: 0000-0002-6968-9489, Olah, Edith, Diez, Orland, Brunet, Joan ORCID: 0000-0003-1945-3512, Pujana, Miquel Angel, Gronwald, Jacek ORCID: 0000-0002-3643-2871, Huzarski, Tomasz ORCID: 0000-0003-3857-4854, Barkardottir, Rosa B., Laframboise, Rachel, Soucy, Penny, Montagna, Marco, Agata, Simona, Teixeira, Manuel R., Park, Sue Kyung, Lindor, Noralane, Couch, Fergus J., Tischkowitz, Marc ORCID: 0000-0002-7880-0628, 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 ORCID: 0000-0002-0475-1771, Piedmonte, Marion, Mulligan, Anna Marie ORCID: 0000-0002-7239-5297, Glendon, Gord, Bojesen, Anders ORCID: 0000-0003-4289-8595, Thomassen, Mads, Caligo, Maria A., Yoon, Sook-Yee, Friedman, Eitan, Laitman, Yael, Borg, Ake, Von Wachenfeldt, Anna, Ehrencrona, Hans ORCID: 0000-0002-5589-3622, 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 ORCID: 0000-0001-5077-0124, Apicella, Carmel, Tamimi, Rulla, Luben, Robert, Khaw, Kay-Tee, Helland, Aslaug ORCID: 0000-0002-5520-0275, Haakensen, Vilde, Dowsett, Mitch ORCID: 0000-0003-4122-744X, Pharoah, Paul D. P., Simard, Jacques, Hall, Per, Garcia-Closas, Montserrat, Vachon, Celine, Chenevix-Trench, Georgia ORCID: 0000-0002-1878-2587, Antoniou, Antonis C., Easton, Douglas F. and Edwards, Stacey L.
(2016).
Breast cancer risk variants at 6q25 display different phenotype associations and regulate ESR1, RMND1 and CCDC170.
Nature Genet., 48 (4).
S. 374 - 390.
NEW YORK:
NATURE PUBLISHING GROUP.
ISSN 1546-1718
Full text not available from this repository.
Abstract
We analyzed 3,872 common genetic variants across the ESR1 locus (encoding estrogen receptor a) 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.
Item Type: |
Journal Article
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Creators: |
Creators | Email | ORCID | ORCID Put Code |
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Dunning, Alison M. | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Michailidou, Kyriaki | UNSPECIFIED | orcid.org/0000-0001-7065-1237 | UNSPECIFIED | Kuchenbaecker, Karoline B. | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Thompson, Deborah | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | French, Juliet D. | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Beesley, Jonathan | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Healey, Catherine S. | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Kar, Siddhartha | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Pooley, Karen A. | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Lopez-Knowles, Elena | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Dicks, Ed | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Barrowdale, Daniel | UNSPECIFIED | orcid.org/0000-0003-1661-3939 | UNSPECIFIED | Sinnott-Armstrong, Nicholas A. | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Sallari, Richard C. | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Hillman, Kristine M. | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Kaufmann, Susanne | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Sivakumaran, Haran | UNSPECIFIED | orcid.org/0000-0002-4691-4989 | UNSPECIFIED | Marjaneh, Mahdi Moradi | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Lee, Jason S. | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Hills, Margaret | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Jarosz, Monika | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Drury, Suzie | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Canisius, Sander | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Bolla, Manjeet K. | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Dennis, Joe | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Wang, Qin | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Hopper, John L. | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Southey, Melissa C. | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Broeks, Annegien | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Schmidt, Marjanka K. | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Lophatananon, Artitaya | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Muir, Kenneth | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Beckmann, Matthias W. | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Fasching, Peter A. | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | dos-Santos-Silva, Isabel | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Peto, Julian | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Sawyer, Elinor J. | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Tomlinson, Ian | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Burwinkel, Barbara | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Marme, Frederik | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Guenel, Pascal | UNSPECIFIED | orcid.org/0000-0002-8359-518X | UNSPECIFIED | Truong, Therese | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Bojesen, Stig E. | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Flyger, Henrik | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Gonzalez-Neira, Anna | UNSPECIFIED | orcid.org/0000-0002-5421-2020 | UNSPECIFIED | Perez, Jose I. A. | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Anton-Culver, Hoda | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Eunjung, Lee | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Arndt, Volker | UNSPECIFIED | orcid.org/0000-0001-9320-8684 | UNSPECIFIED | Brenner, Hermann | UNSPECIFIED | orcid.org/0000-0002-6129-1572 | UNSPECIFIED | Meindl, Alfons | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Schmutzler, Rita K. | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Brauch, Hiltrud | UNSPECIFIED | orcid.org/0000-0001-7531-2736 | UNSPECIFIED | Hamann, Ute | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Aittomaki, Kristiina | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Blomqvist, Carl | UNSPECIFIED | orcid.org/0000-0003-3041-1938 | UNSPECIFIED | Ito, Hidemi | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Matsuo, Keitaro | UNSPECIFIED | orcid.org/0000-0003-1761-6314 | UNSPECIFIED | Bogdanova, Natasha | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Dork, Thilo | UNSPECIFIED | orcid.org/0000-0002-9458-0282 | UNSPECIFIED | Lindblom, Annika | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Margolin, Sara | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Kosma, Veli-Matti | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Mannermaa, Arto | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Tseng, Chiu-chen | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Wu, Anna H. | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Lambrechts, Diether | UNSPECIFIED | orcid.org/0000-0002-3429-302X | UNSPECIFIED | Wildiers, Hans | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Chang-Claude, Jenny | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Rudolph, Anja | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Peterlongo, Paolo | UNSPECIFIED | orcid.org/0000-0001-6951-6855 | UNSPECIFIED | Radice, Paolo | UNSPECIFIED | orcid.org/0000-0001-6298-4111 | UNSPECIFIED | Olson, Janet E. | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Giles, Graham G. | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Milne, Roger L. | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Haiman, Christopher A. | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Henderson, Brian E. | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Goldberg, Mark S. | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Teo, Soo H. | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Yip, Cheng Har | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Nord, Silje | UNSPECIFIED | orcid.org/0000-0002-3271-5356 | UNSPECIFIED | Borresen-Dale, Anne-Lise | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Kristensen, Vessela | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Long, Jirong | UNSPECIFIED | orcid.org/0000-0002-7433-9766 | UNSPECIFIED | Zheng, Wei | UNSPECIFIED | orcid.org/0000-0003-1226-070X | UNSPECIFIED | Pylkas, Katri | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Winqvist, Robert | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Andrulis, Irene L. | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Knight, Julia A. | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Devilee, Peter | UNSPECIFIED | orcid.org/0000-0002-8023-2009 | UNSPECIFIED | Seynaeve, Caroline | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Figueroa, Jonine | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Sherman, Mark E. | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Czene, Kamila | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Darabi, Hatef | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Hollestelle, Antoinette | UNSPECIFIED | orcid.org/0000-0003-1166-1966 | UNSPECIFIED | van den Ouweland, Ans M. 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|
URN: |
urn:nbn:de:hbz:38-280652 |
DOI: |
10.1038/ng.3521 |
Journal or Publication Title: |
Nature Genet. |
Volume: |
48 |
Number: |
4 |
Page Range: |
S. 374 - 390 |
Date: |
2016 |
Publisher: |
NATURE PUBLISHING GROUP |
Place of Publication: |
NEW YORK |
ISSN: |
1546-1718 |
Language: |
English |
Faculty: |
Unspecified |
Divisions: |
Unspecified |
Subjects: |
no entry |
Uncontrolled Keywords: |
Keywords | Language |
---|
GENOME-WIDE ASSOCIATION; BRCA2 MUTATION CARRIERS; BONE-MINERAL DENSITY; MAMMOGRAPHIC DENSITY; SUSCEPTIBILITY LOCUS; METAANALYSIS; MODIFIERS; REVEALS; DISEASE; WOMEN | Multiple languages | Genetics & Heredity | Multiple languages |
|
Refereed: |
Yes |
URI: |
http://kups.ub.uni-koeln.de/id/eprint/28065 |
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