Breast cancer risk variants at 6q25 display different phenotype associations and regulate ESR1, RMND1 and CCDC170.
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Authors
Dunning, Alison MMichailidou, Kyriaki
Kuchenbaecker, Karoline B
Thompson, Deborah
French, Juliet D
Beesley, Jonathan
Healey, Catherine S
Kar, Siddhartha
Pooley, Karen A
Lopez-Knowles, Elena
Dicks, Ed
Gronwald, Jacek
Huzarski, Tomasz
Barkardottir, Rosa B
Laframboise, Rachel
Soucy, Penny
Montagna, Marco
Agata, Simona
Teixeira, Manuel R
Park, Sue Kyung
Hills, Margaret
Cox, Angela
Lindor, Noralane
Couch, Fergus J
Tischkowitz, Marc
Foretova, Lenka
Vijai, Joseph
Offit, Kenneth
Singer, Christian F
Rappaport, Christine
Phelan, Catherine M
Greene, Mark H
Cross, Simon S
Jarosz, Monika
Mai, Phuong L
Rennert, Gad
Imyanitov, Evgeny N
Hulick, Peter J
Phillips, Kelly-Anne
Piedmonte, Marion
Mulligan, Anna Marie
Glendon, Gord
Bojesen, Anders
Blot, William
Thomassen, Mads
Drury, Suzie
Caligo, Maria A
Yoon, Sook-Yee
Friedman, Eitan
Laitman, Yael
Borg, Ake
von Wachenfeldt, Anna
Ehrencrona, Hans
Rantala, Johanna
Cai, Qiuyin
Olopade, Olufunmilayo I
Ganz, Patricia A
Canisius, Sander
Nussbaum, Robert L
Gayther, Simon A
Nathanson, Katherine L
Domchek, Susan M
Arun, Banu K
Mitchell, Gillian
Karlan, Beth Y
Ghoussaini, Maya
Lester, Jenny
Maskarinec, Gertraud
Woolcott, Christy
Bolla, Manjeet K
Scott, Christopher
Stone, Jennifer
Apicella, Carmel
Tamimi, Rulla
Luben, Robert
Khaw, Kay-Tee
Perkins, Barbara J
Helland, Åslaug
Haakensen, Vilde
Dowsett, Mitch
Pharoah, Paul D P
Dennis, Joe
Simard, Jacques
Hall, Per
García-Closas, Montserrat
Vachon, Celine
Chenevix-Trench, Georgia
Shah, Mitul
Antoniou, Antonis C
Easton, Douglas F
Edwards, Stacey L
Wang, Qin
Hopper, John L
Southey, Melissa C
Broeks, Annegien
Schmidt, Marjanka K
Lophatananon, Artitaya
Muir, Kenneth
Choi, Ji-Yeob
Beckmann, Matthias W
Fasching, Peter A
Dos-Santos-Silva, Isabel
Peto, Julian
Sawyer, Elinor J
Tomlinson, Ian
Burwinkel, Barbara
Marme, Frederik
Guénel, Pascal
Truong, Thérèse
Kang, Daehee
Bojesen, Stig E
Flyger, Henrik
González-Neira, Anna
Perez, Jose I A
Anton-Culver, Hoda
Eunjung, Lee
Arndt, Volker
Brenner, Hermann
Meindl, Alfons
Schmutzler, Rita K
Lee, Soo Chin
Brauch, Hiltrud
Hamann, Ute
Aittomäki, Kristiina
Blomqvist, Carl
Ito, Hidemi
Matsuo, Keitaro
Bogdanova, Natasha
Dörk, Thilo
Lindblom, Annika
Margolin, Sara
Barrowdale, Daniel
Kosma, Veli-Matti
Mannermaa, Arto
Tseng, Chiu-Chen
Wu, Anna H
Lambrechts, Diether
Wildiers, Hans
Chang-Claude, Jenny
Rudolph, Anja
Peterlongo, Paolo
Radice, Paolo
Hartman, Mikael
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
Kabisch, Maria
Kristensen, Vessela
Long, Jirong
Zheng, Wei
Pylkäs, Katri
Winqvist, Robert
Andrulis, Irene L
Knight, Julia A
Devilee, Peter
Seynaeve, Caroline
Figueroa, Jonine
Torres, Diana
Sherman, Mark E
Czene, Kamila
Darabi, Hatef
Hollestelle, Antoinette
van den Ouweland, Ans M W
Humphreys, Keith
Gao, Yu-Tang
Shu, Xiao-Ou
Jakubowska, Anna
Lubinski, Jan
Brennan, Paul
Sangrajrang, Suleeporn
Ambrosone, Christine B
Toland, Amanda E
Shen, Chen-Yang
Sinnott-Armstrong, Nicholas A
Wu, Pei-Ei
Orr, Nick
Swerdlow, Anthony
McGuffog, Lesley
Healey, Sue
Lee, Andrew
Kapuscinski, Miroslav
John, Esther M
Terry, Mary Beth
Daly, Mary B
Sallari, Richard C
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
Hillman, Kristine M
Osorio, Ana
Benitez, Javier
Rando, Rachel
Weitzel, Jeffrey N
Bonanni, Bernardo
Peissel, Bernard
Manoukian, Siranoush
Papi, Laura
Ottini, Laura
Konstantopoulou, Irene
Kaufmann, Susanne
Apostolou, Paraskevi
Garber, Judy
Rashid, Muhammad Usman
Frost, Debra
Izatt, Louise
Ellis, Steve
Godwin, Andrew K
Arnold, Norbert
Niederacher, Dieter
Rhiem, Kerstin
Sivakumaran, Haran
Bogdanova-Markov, Nadja
Sagne, Charlotte
Stoppa-Lyonnet, Dominique
Damiola, Francesca
Sinilnikova, Olga M
Mazoyer, Sylvie
Isaacs, Claudine
Claes, Kathleen B M
De Leeneer, Kim
de la Hoya, Miguel
Moradi Marjaneh, Mahdi
Caldes, Trinidad
Nevanlinna, Heli
Khan, Sofia
Mensenkamp, Arjen R
Hooning, Maartje J
Rookus, Matti A
Kwong, Ava
Olah, Edith
Diez, Orland
Brunet, Joan
Lee, Jason S
Pujana, Miquel Angel
Issue Date
2016-04
Metadata
Show full item recordCitation
Breast cancer risk variants at 6q25 display different phenotype associations and regulate ESR1, RMND1 and CCDC170. 2016, 48 (4):374-86 Nat. Genet.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.Description
To access publisher's full text version of this article click on the hyperlink at the bottom of the pageAdditional Links
http://dx.doi.org/ 10.1038/ng.3521http://www.nature.com/ng/journal/v48/n4/pdf/ng.3521.pdf
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closedAccessae974a485f413a2113503eed53cd6c53
10.1038/ng.3521
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