Please use this identifier to cite or link to this item: https://hdl.handle.net/20.500.12530/27333
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
Moradi Marjaneh, Mahdi
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
Guénel, Pascal
Truong, Thérèse
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
Brauch, Hiltrud
Hamann, Ute
Aittomäki, Kristiina
Blomqvist, Carl
Ito, Hidemi
Matsuo, Keitaro
Bogdanova, Natasha
Dörk, 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
Pylkäs, 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 M W
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 V O
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 B M
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, Åslaug
Haakensen, Vilde
Dowsett, Mitch
Pharoah, Paul D P
Simard, Jacques
Hall, Per
García-Closas, Montserrat
Vachon, Celine
Chenevix-Trench, Georgia
Antoniou, Antonis C
Easton, Douglas F
Edwards, Stacey L
Mesh: 
Issue Date: Apr-2016
Citation: Nat. Genet..2016 Apr;(48)4:374-86
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.
PMID: 26928228
URI: https://hdl.handle.net/20.500.12530/27333
Rights: openAccess
Appears in Collections:Fundaciones e Institutos de Investigación > IIS H. U. Clínico San Carlos > Artículos

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