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
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