Breast cancer risk variants at 6q25 display different phenotype associations and regulate ESR1, RMND1 and CCDC170

von Wachenfeldt, Anna; dos-Santos-Silva, Isabel; de la Hoya, Miguel; van den Ouweland, Ans M. W.; van Rensburg, Elizabeth J.; Wang, Qin; Tomlinson, Ian; Truong, Thérèse; Tseng, Chiu-Chen; Wu, Anna H. (Anna); Wildiers, Hans; Yip, Cheng Har; Zheng, Wei; Winqvist, Robert; Van Den Ouweland, A. M. W.; Torres, Diana; Toland, Amanda E. (Amanda); Wu, Pei-Ei; Van Rensburg, E. J.; Tihomirova, Laima; Tung, Nadine; Weitzel, Jeffrey N. (Jeffrey); Tischkowitz, Marc; Vijai, Joseph; Yoon, Sook-Yee; Von Wachenfeldt, A.; Woolcott, Christy; Vachon, Celine; Dunning, Am M. (Alison); Kuchenbaecker, Kb B. (Karoline); French, Juliet D. (Juliet); Healey, Cs S. (Sue); Sinnott-Armstrong, Nicholas A. (Nicholas A); Sallari, Richard C. (Richard C); Pooley, Ka A. (Karen); Am, Dunning; Hillman, Kristine M. (Kristine); Michailidou, Kyriaki; Marjaneh, Mahdi Moradi; Lee, Jason S. (Jason S); Bolla, Manjeet K.; Jarosz, Monika; Drury, Suzie; Hopper, John L.; Canisius, Sander; KBolla, M. (Manjeet); Dennis, Joe G.; Thompson, Deborah J.; Southey, Melissa C. (Mellissa C.); Broeks, Annegien; LHopper, J. (John); Schmidt, Marjanka K. (Marjanka K.); Lophatananon, Artitaya; Muir, Kenneth R. (K.); Beckmann, Matthias W. (Matthias W.); Fasching, Peter A. (Peter); Dos Santos Silva, Isabel; Peto, Julian; Sawyer, Elinor J. (Elinor); Burwinkel, Barbara; Marme, Frederik; Beesley, Jonathan; Guenel, Pascal; Kb, Kuchenbaecker; Bojesen, Stig E. (Stig); Flyger, Henrik; Gonzalez-Neira, Anna; Perez, Jose Ignacio Arias; Anton-Culver, Hoda; Eunjung, Lee; Arndt, Volker; Brenner, Hermann; Meindl, Alfons; Santos Silva, I. (Isabel) dos; Schmutzler, Rita K. (Rita); Brauch, Hiltrud; Hamann, Ute; Blomqvist, Carl; Ito, Hidemi; Matsuo, Keitaro; Bogdanova, Natasha V. (Natalia); Kar, Siddhartha; Dörk, Thilo; Lindblom, Annika; Aittomaki, Kristiina; Margolin, Sara; Kosma, Veli-Matti; Mannermaa, Arto; Lambrechts, Diether; Aittomki, K. (Kristiina); Dork, T.; Chang-Claude, Jenny; Rudolph, Anja; Peterlongo, Paolo; Radice, Paolo; EOlson, J. (Janet); Lopez-Knowles, Elena; GGiles, G. (Graham); Jd, French; Dicks, Ed; Milne, Roger L. (Roger L); Haiman, Christopher A. (Christopher A.); Henderson, Brian E. (Brian); Goldberg, Mark S. (Mark); Teo, Soo-Hwang; Olson, Janet E.; Nord, Silje; Borresen-Dale, Anne-Lise; Giles, Graham G.; Barrowdale, Daniel; Kristensen, Vessela; Long, Jirong; Pylks, K. (Katri); Andrulis, Irene L. (Irene); Knight, Julia A. (Julia A.); Devilee, Peter; Pylkas, Katri; Seynaeve, Caroline M. (Caroline); Figueroa, Jonine D. (Jonine); Sherman, Mark E. (Mark); Czene, Kamila; Darabi, Hatef; Hollestelle, Antoinette; Humphreys, Keith; Gao, Yu-Tang; Shu, Xiao-Ou; Ouweland, A. M. W. (Ans) van den; Cs, Healey; Cox, Angela; Cross, Simon S. (Simon); Blot, William J. (William); Cai, Qiuyin; Ghoussaini, Maya; Perkins, Barbara J.; Shah, Mitul; Choi, Ji-Yeob; Kang, Daehee; Lee, Soo Chin; Kaufmann, Susanne; Hartman, Mikael; Kabisch, Maria; Jakubowska, Anna; Lubinski, Jan; Brennan, Paul; Sangrajrang, Suleeporn; Sivakumaran, Haran; Ambrosone, Christine B. (Christine B.); Shen, Chen-Yang; Orr, Nick; Rensburg, E. J. (Elizabeth) van; Swerdlow, Anthony J. (Anthony ); McGuffog, Lesley; Healey, Sue; Lee, Andrew R.; Ka, Pooley; Kapuscinski, Miroslav K. (Miroslav K.); John, Esther M. (Esther); Terry, Mary-Beth; Daly, Mary B. (Mary B.); Goldgar, David E.; Buys, Saundra S. (Saundra); Janavicius, Ramunas; Dorfling, Cecilia M. (Cecilia); Neuhausen, Susan L. (Susan); Hansen, Thomas V. O.; Ejlertsen, Bent; OHansen, Thomas V. (Thomas; Hills, Margaret; Osorio, Ana; Benitez, Javier; Rando, Rachel; Bonanni, Bernardo; Peissel, Bernard; Hoya, M. (Miguel) de La; Manoukian, Siranoush; Papi, Laura; Ottini, Laura; Konstantopoulou, Irene; Apostolou, Paraskevi; Garber, Judy; Rashid, Muhammad Usman; Frost, Debra; Izatt, Louise; Ellis, Steve D. (Steve); Godwin, Andrew K. (Andrew K.); Arnold, Norbert; Niederacher, Dieter; De la Hoya, M.; Rhiem, Kerstin; Na, Sinnott Armstrong; Bogdanova-Markov, Nadja; Sagne, Charlotte; Stoppa-Lyonnet, Dominique; Díez, Orland; Damiola, Francesca; Sinilnikova, Olga M.; Mazoyer, Sylvie; Isaacs, Claudine; MClaes, Kathleen B. (Kathleen B); De Leeneer, Kim; Claes, Kathleen B. M.; Teixeira, P. J.; Caldes, Trinidad; Moradi Marjaneh, Mahdi; Nevanlinna, Heli; Khan, Sofia; Mensenkamp, Arjen R. (Arjen); Hooning, Maartje J. (Maartje); Rc, Sallari; Rookus, Matti A. (Matti); Kwong, Ava; Olah, Edith; Diez, Orland; Brunet, Joan; Pujana, Miquel Angel; Gronwald, Jacek; Huzarski, Tomasz; Barkardottir, Rosa B. (Rosa); Laframboise, Rachel; Soucy, Penny; Montagna, Marco; Km, Hillman; Kyung Park, S. (Sue); Agata, Simona; Teixeira, Manuel R.; Lindor, Noralane M. (Noralane); Park, Sue Kyung; Couch, Fergus J. (Fergus J); Foretova, Lenka; Offit, Kenneth; Singer, Christian F. (Christian); Phelan, Catherine M.; Rappaport, Christine; MPhelan, C. (Catherine); Greene, Mark H. (Mark H.); Mai, Phuong L. (Phuong); Rennert, Gad; Imyanitov, Evgeny N. (Evgeny); Hulick, Peter J. (Peter); Phillips, Kelly-Anne; Piedmonte, Marion; Mulligan, Anna Marie; Glendon, Gord; Bojesen, Anders; Helland, Åslaug; Thomassen, Mads; Caligo, Maria A. (Maria); Helland, S. (Slaug); Friedman, Eitan; Laitman, Yael; Borg, Ake; Ehrencrona, Hans; Rantala, Johanna; Olopade, Olufunmilayo I. (Olufunmilayo I.); Nathanson, Katherine L.; Ganz, Patricia A. (Patricia A.); Nussbaum, Robert L.; LNathanson, K. (Katherine); Helland, A.; Gayther, Simon A. (Simon); Domchek, Susan M. (Susan); Arun, Banu K. (Banu); Mitchell, Gillian; Karlan, Beth Y. (Beth Y.); Lester, Jenny; Maskarinec, Gertraud; Embrace, Collaborators Gemo Study Hebon Investigators K. ConFab; Scott, Christopher G. (Christopher G.); Stone, Jennifer; Apicella, Carmel; Tamimi, Rulla; Helland, S.; Js, Lee; Luben, Robert N. (Robert); Helland, Slaug; Khaw, Kay-Tee; Haakensen, Vilde; Dowsett, Mitch; Garcia-Closas, Montserrat; Pharoah, Paul D. P. (Paul); Bonnani, B. (Bernardo); Simard, Jacques; Hall, Per; Collaborators, Gemo Study; Chenevix-Trench, Georgia; Borg, Å. (Åke); Antoniou, Antonis C. (Antonis C.); Hebon,; Easton, Douglas F. (Douglas F.); ConFab Investigators, K.; Edwards, Stacey L. (Stacey); Sl, Edwards

Dissemin
Diana María Torres López
von Wachenfeldt et al., 2016

Published in

Nature Research, Nature Genetics, 4(48), p. 374-386, 2016

DOI: 10.1038/ng.3521

Tools

Export citation

Format

@article{von Wachenfeldt2016,
  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.},
  author = {von Wachenfeldt, Anna and dos-Santos-Silva, Isabel and de la Hoya, Miguel and van den Ouweland, Ans M. W. and van Rensburg, Elizabeth J. and Wang, Qin and Tomlinson, Ian and Truong, Thérèse and Tseng, Chiu-Chen and Wu, Anna H. (Anna) and Wildiers, Hans and Yip, Cheng Har and Zheng, Wei and Winqvist, Robert and Van Den Ouweland, A. M. W. and Torres, Diana and Toland, Amanda E. (Amanda) and Wu, Pei-Ei and Van Rensburg, E. J. and Tihomirova, Laima and Tung, Nadine and Weitzel, Jeffrey N. (Jeffrey) and Tischkowitz, Marc and Vijai, Joseph and Yoon, Sook-Yee and Von Wachenfeldt, A. and Woolcott, Christy and Vachon, Celine and Dunning, Am M. (Alison) and Kuchenbaecker, Kb B. (Karoline) and French, Juliet D. (Juliet) and Healey, Cs S. (Sue) and Sinnott-Armstrong, Nicholas A. (Nicholas A) and Sallari, Richard C. (Richard C) and Pooley, Ka A. (Karen) and Am, Dunning and Hillman, Kristine M. (Kristine) and Michailidou, Kyriaki and Marjaneh, Mahdi Moradi and Lee, Jason S. (Jason S) and Bolla, Manjeet K. and Jarosz, Monika and Drury, Suzie and Hopper, John L. and Canisius, Sander and KBolla, M. (Manjeet) and Dennis, Joe G. and Thompson, Deborah J. and Southey, Melissa C. (Mellissa C.) and Broeks, Annegien and LHopper, J. (John) and Schmidt, Marjanka K. (Marjanka K.) and Lophatananon, Artitaya and Muir, Kenneth R. (K.) and Beckmann, Matthias W. (Matthias W.) and Fasching, Peter A. (Peter) and Dos Santos Silva, Isabel and Peto, Julian and Sawyer, Elinor J. (Elinor) and Burwinkel, Barbara and Marme, Frederik and Beesley, Jonathan and Guenel, Pascal and Kb, Kuchenbaecker and Bojesen, Stig E. (Stig) and Flyger, Henrik and Gonzalez-Neira, Anna and Perez, Jose Ignacio Arias and Anton-Culver, Hoda and Eunjung, Lee and Arndt, Volker and Brenner, Hermann and Meindl, Alfons and Santos Silva, I. (Isabel) dos and Schmutzler, Rita K. (Rita) and Brauch, Hiltrud and Hamann, Ute and Blomqvist, Carl and Ito, Hidemi and Matsuo, Keitaro and Bogdanova, Natasha V. (Natalia) and Kar, Siddhartha and Dörk, Thilo and Lindblom, Annika and Aittomaki, Kristiina and Margolin, Sara and Kosma, Veli-Matti and Mannermaa, Arto and Lambrechts, Diether and Aittomki, K. (Kristiina) and Dork, T. and Chang-Claude, Jenny and Rudolph, Anja and Peterlongo, Paolo and Radice, Paolo and EOlson, J. (Janet) and Lopez-Knowles, Elena and GGiles, G. (Graham) and Jd, French and Dicks, Ed and Milne, Roger L. (Roger L) and Haiman, Christopher A. (Christopher A.) and Henderson, Brian E. (Brian) and Goldberg, Mark S. (Mark) and Teo, Soo-Hwang and Olson, Janet E. and Nord, Silje and Borresen-Dale, Anne-Lise and Giles, Graham G. and Barrowdale, Daniel and Kristensen, Vessela and Long, Jirong and Pylks, K. (Katri) and Andrulis, Irene L. (Irene) and Knight, Julia A. (Julia A.) and Devilee, Peter and Pylkas, Katri and Seynaeve, Caroline M. (Caroline) and Figueroa, Jonine D. (Jonine) and Sherman, Mark E. (Mark) and Czene, Kamila and Darabi, Hatef and Hollestelle, Antoinette and Humphreys, Keith and Gao, Yu-Tang and Shu, Xiao-Ou and Ouweland, A. M. W. (Ans) van den and Cs, Healey and Cox, Angela and Cross, Simon S. (Simon) and Blot, William J. (William) and Cai, Qiuyin and Ghoussaini, Maya and Perkins, Barbara J. and Shah, Mitul and Choi, Ji-Yeob and Kang, Daehee and Lee, Soo Chin and Kaufmann, Susanne and Hartman, Mikael and Kabisch, Maria and Jakubowska, Anna and Lubinski, Jan and Brennan, Paul and Sangrajrang, Suleeporn and Sivakumaran, Haran and Ambrosone, Christine B. (Christine B.) and Shen, Chen-Yang and Orr, Nick and Rensburg, E. J. (Elizabeth) van and Swerdlow, Anthony J. (Anthony ) and McGuffog, Lesley and Healey, Sue and Lee, Andrew R. and Ka, Pooley and Kapuscinski, Miroslav K. (Miroslav K.) and John, Esther M. (Esther) and Terry, Mary-Beth and Daly, Mary B. (Mary B.) and Goldgar, David E. and Buys, Saundra S. (Saundra) and Janavicius, Ramunas and Dorfling, Cecilia M. (Cecilia) and Neuhausen, Susan L. (Susan) and Hansen, Thomas V. O. and Ejlertsen, Bent and OHansen, Thomas V. (Thomas and Hills, Margaret and Osorio, Ana and Benitez, Javier and Rando, Rachel and Bonanni, Bernardo and Peissel, Bernard and Hoya, M. (Miguel) de La and Manoukian, Siranoush and Papi, Laura and Ottini, Laura and Konstantopoulou, Irene and Apostolou, Paraskevi and Garber, Judy and Rashid, Muhammad Usman and Frost, Debra and Izatt, Louise and Ellis, Steve D. (Steve) and Godwin, Andrew K. (Andrew K.) and Arnold, Norbert and Niederacher, Dieter and De la Hoya, M. and Rhiem, Kerstin and Na, Sinnott Armstrong and Bogdanova-Markov, Nadja and Sagne, Charlotte and Stoppa-Lyonnet, Dominique and Díez, Orland and Damiola, Francesca and Sinilnikova, Olga M. and Mazoyer, Sylvie and Isaacs, Claudine and MClaes, Kathleen B. (Kathleen B) and De Leeneer, Kim and Claes, Kathleen B. M. and Teixeira, P. J. and Caldes, Trinidad and Moradi Marjaneh, Mahdi and Nevanlinna, Heli and Khan, Sofia and Mensenkamp, Arjen R. (Arjen) and Hooning, Maartje J. (Maartje) and Rc, Sallari and Rookus, Matti A. (Matti) and Kwong, Ava and Olah, Edith and Diez, Orland and Brunet, Joan and Pujana, Miquel Angel and Gronwald, Jacek and Huzarski, Tomasz and Barkardottir, Rosa B. (Rosa) and Laframboise, Rachel and Soucy, Penny and Montagna, Marco and Km, Hillman and Kyung Park, S. (Sue) and Agata, Simona and Teixeira, Manuel R. and Lindor, Noralane M. (Noralane) and Park, Sue Kyung and Couch, Fergus J. (Fergus J) and Foretova, Lenka and Offit, Kenneth and Singer, Christian F. (Christian) and Phelan, Catherine M. and Rappaport, Christine and MPhelan, C. (Catherine) and Greene, Mark H. (Mark H.) and Mai, Phuong L. (Phuong) and Rennert, Gad and Imyanitov, Evgeny N. (Evgeny) and Hulick, Peter J. (Peter) and Phillips, Kelly-Anne and Piedmonte, Marion and Mulligan, Anna Marie and Glendon, Gord and Bojesen, Anders and Helland, Åslaug and Thomassen, Mads and Caligo, Maria A. (Maria) and Helland, S. (Slaug) and Friedman, Eitan and Laitman, Yael and Borg, Ake and Ehrencrona, Hans and Rantala, Johanna and Olopade, Olufunmilayo I. (Olufunmilayo I.) and Nathanson, Katherine L. and Ganz, Patricia A. (Patricia A.) and Nussbaum, Robert L. and LNathanson, K. (Katherine) and Helland, A. and Gayther, Simon A. (Simon) and Domchek, Susan M. (Susan) and Arun, Banu K. (Banu) and Mitchell, Gillian and Karlan, Beth Y. (Beth Y.) and Lester, Jenny and Maskarinec, Gertraud and Embrace, Collaborators Gemo Study Hebon Investigators K. ConFab and Scott, Christopher G. (Christopher G.) and Stone, Jennifer and Apicella, Carmel and Tamimi, Rulla and Helland, S. and Js, Lee and Luben, Robert N. (Robert) and Helland, Slaug and Khaw, Kay-Tee and Haakensen, Vilde and Dowsett, Mitch and Garcia-Closas, Montserrat and Pharoah, Paul D. P. (Paul) and Bonnani, B. (Bernardo) and Simard, Jacques and Hall, Per and Collaborators, Gemo Study and Chenevix-Trench, Georgia and Borg, Å. (Åke) and Antoniou, Antonis C. (Antonis C.) and Hebon,  and Easton, Douglas F. (Douglas F.) and ConFab Investigators, K. and Edwards, Stacey L. (Stacey) and Sl, Edwards},
  doi = {10.1038/ng.3521},
  journal = {Nature Genetics},
  month = {feb},
  pages = {374-386},
  title = {Breast cancer risk variants at 6q25 display different phenotype associations and regulate ESR1, RMND1 and CCDC170},
  url = {http://www.nature.com/articles/ng.3521.pdf},
  volume = {48},
  year = {2016}
}

Download

Export citation

Search in Google Scholar

Breast cancer risk variants at 6q25 display different phenotype associations and regulate ESR1, RMND1 and CCDC170

Journal article published in 2016 by Anna von Wachenfeldt, Isabel dos-Santos-Silva, Miguel de la Hoya, Ans M. W. van den Ouweland, Elizabeth J. van Rensburg, Qin Wang, Ian Tomlinson, Thérèse Truong, Chiu-Chen Tseng, Anna H. (Anna) Wu, Hans Wildiers, Cheng Har Yip, Wei Zheng, Robert Winqvist, A. M. W. Van Den Ouweland and other authors. Anna von Wachenfeldt, Isabel dos-Santos-Silva, Miguel de la Hoya, Ans M. W. van den Ouweland, Elizabeth J. van Rensburg, Qin Wang, Ian Tomlinson, Thérèse Truong, Chiu-Chen Tseng, Anna H. (Anna) Wu, Hans Wildiers, Cheng Har Yip, Wei Zheng, Robert Winqvist, A. M. W. Van Den Ouweland, Diana Torres

, Amanda E. (Amanda) Toland, Pei-Ei Wu, E. J. Van Rensburg, Laima Tihomirova, Nadine Tung, Jeffrey N. (Jeffrey) Weitzel

, Marc Tischkowitz, Joseph Vijai, Sook-Yee Yoon, A. Von Wachenfeldt, Christy Woolcott, Celine Vachon, Am M. (Alison) Dunning

, Kb B. (Karoline) Kuchenbaecker, Juliet D. (Juliet) French, Cs S. (Sue) Healey, Nicholas A. (Nicholas A) Sinnott-Armstrong, Richard C. (Richard C) Sallari, Ka A. (Karen) Pooley, Dunning Am, Kristine M. (Kristine) Hillman, Kyriaki Michailidou, Mahdi Moradi Marjaneh, Jason S. (Jason S) Lee, Manjeet K. Bolla, Monika Jarosz, Suzie Drury, John L. Hopper, Sander Canisius, M. (Manjeet) KBolla, Joe G. Dennis, Deborah J. Thompson, Melissa C. (Mellissa C.) Southey, Annegien Broeks, J. (John) LHopper, Marjanka K. (Marjanka K.) Schmidt, Artitaya Lophatananon, Kenneth R. (K.) Muir, Matthias W. (Matthias W.) Beckmann, Peter A. (Peter) Fasching, Isabel Dos Santos Silva, Julian Peto, Elinor J. (Elinor) Sawyer, Barbara Burwinkel, Frederik Marme, Jonathan Beesley

, Pascal Guenel, Kuchenbaecker Kb, Stig E. (Stig) Bojesen, Henrik Flyger, Anna Gonzalez-Neira, Jose Ignacio Arias Perez, Hoda Anton-Culver, Lee Eunjung, Volker Arndt, Hermann Brenner, Alfons Meindl, I. (Isabel) dos Santos Silva, Rita K. (Rita) Schmutzler, Hiltrud Brauch, Ute Hamann, Carl Blomqvist, Hidemi Ito, Keitaro Matsuo

, Natasha V. (Natalia) Bogdanova, Siddhartha Kar, Thilo Dörk, Annika Lindblom, Kristiina Aittomaki, Sara Margolin, Veli-Matti Kosma, Arto Mannermaa, Diether Lambrechts

, K. (Kristiina) Aittomki, T. Dork, Jenny Chang-Claude, Anja Rudolph, Paolo Peterlongo, Paolo Radice

, J. (Janet) EOlson, Elena Lopez-Knowles, G. (Graham) GGiles, French Jd, Ed Dicks, Roger L. (Roger L) Milne, Christopher A. (Christopher A.) Haiman, Brian E. (Brian) Henderson, Mark S. (Mark) Goldberg, Soo-Hwang Teo, Janet E. Olson, Silje Nord, Anne-Lise Borresen-Dale, Graham G. Giles, Daniel Barrowdale, Vessela Kristensen, Jirong Long, K. (Katri) Pylks, Irene L. (Irene) Andrulis, Julia A. (Julia A.) Knight, Peter Devilee, Katri Pylkas, Caroline M. (Caroline) Seynaeve, Jonine D. (Jonine) Figueroa, Mark E. (Mark) Sherman, Kamila Czene, Hatef Darabi, Antoinette Hollestelle

, Keith Humphreys, Yu-Tang Gao, Xiao-Ou Shu, A. M. W. (Ans) van den Ouweland, Healey Cs, Angela Cox

, Simon S. (Simon) Cross, William J. (William) Blot, Qiuyin Cai, Maya Ghoussaini, Barbara J. Perkins, Mitul Shah, Ji-Yeob Choi, Daehee Kang, Soo Chin Lee, Susanne Kaufmann, Mikael Hartman

, Maria Kabisch, Anna Jakubowska, Jan Lubinski, Paul Brennan, Suleeporn Sangrajrang, Haran Sivakumaran, Christine B. (Christine B.) Ambrosone, Chen-Yang Shen, Nick Orr, E. J. (Elizabeth) van Rensburg, Anthony J. (Anthony ) Swerdlow, Lesley McGuffog, Sue Healey, Andrew R. Lee, Pooley Ka, Miroslav K. (Miroslav K.) Kapuscinski, Esther M. (Esther) John, Mary-Beth Terry, Mary B. (Mary B.) Daly, David E. Goldgar, Saundra S. (Saundra) Buys, Ramunas Janavicius, Cecilia M. (Cecilia) Dorfling, Susan L. (Susan) Neuhausen, Thomas V. O. Hansen, Bent Ejlertsen, Thomas V. (Thomas OHansen, Margaret Hills, Ana Osorio, Javier Benitez, Rachel Rando, Bernardo Bonanni, Bernard Peissel, M. (Miguel) de La Hoya, Siranoush Manoukian

, Laura Papi, Laura Ottini, Irene Konstantopoulou, Paraskevi Apostolou, Judy Garber, Muhammad Usman Rashid, Debra Frost, Louise Izatt, Steve D. (Steve) Ellis, Andrew K. (Andrew K.) Godwin, Norbert Arnold, Dieter Niederacher, M. De la Hoya, Kerstin Rhiem, Sinnott Armstrong Na, Nadja Bogdanova-Markov, Charlotte Sagne, Dominique Stoppa-Lyonnet, Orland Díez, Francesca Damiola, Olga M. Sinilnikova, Sylvie Mazoyer, Claudine Isaacs, Kathleen B. (Kathleen B) MClaes, Kim De Leeneer, Kathleen B. M. Claes, P. J. Teixeira, Trinidad Caldes, Mahdi Moradi Marjaneh, Heli Nevanlinna, Sofia Khan

, Arjen R. (Arjen) Mensenkamp, Maartje J. (Maartje) Hooning, Sallari Rc, Matti A. (Matti) Rookus, Ava Kwong

, Edith Olah, Orland Diez, Joan Brunet, Miquel Angel Pujana, Jacek Gronwald, Tomasz Huzarski, Rosa B. (Rosa) Barkardottir, Rachel Laframboise, Penny Soucy, Marco Montagna, Hillman Km, S. (Sue) Kyung Park, Simona Agata, Manuel R. Teixeira, Noralane M. (Noralane) Lindor, Sue Kyung Park, Fergus J. (Fergus J) Couch, Lenka Foretova, Kenneth Offit, Christian F. (Christian) Singer, Catherine M. Phelan, Christine Rappaport, C. (Catherine) MPhelan, Mark H. (Mark H.) Greene, Phuong L. (Phuong) Mai, Gad Rennert, Evgeny N. (Evgeny) Imyanitov, Peter J. (Peter) Hulick, Kelly-Anne Phillips, Marion Piedmonte, Anna Marie Mulligan, Gord Glendon, Anders Bojesen, Åslaug Helland, Mads Thomassen, Maria A. (Maria) Caligo, S. (Slaug) Helland, Eitan Friedman, Yael Laitman, Ake Borg, Hans Ehrencrona, Johanna Rantala, Olufunmilayo I. (Olufunmilayo I.) Olopade, Katherine L. Nathanson, Patricia A. (Patricia A.) Ganz, Robert L. Nussbaum, K. (Katherine) LNathanson, A. Helland, Simon A. (Simon) Gayther, Susan M. (Susan) Domchek, Banu K. (Banu) Arun, Gillian Mitchell, Beth Y. (Beth Y.) Karlan, Jenny Lester, Gertraud Maskarinec, Collaborators Gemo Study Hebon Investigators K. ConFab Embrace, Christopher G. (Christopher G.) Scott, Jennifer Stone

, Carmel Apicella, Rulla Tamimi, S. Helland, Lee Js, Robert N. (Robert) Luben

, Slaug Helland, Kay-Tee Khaw, Vilde Haakensen, Mitch Dowsett, Montserrat Garcia-Closas, Paul D. P. (Paul) Pharoah, B. (Bernardo) Bonnani, Jacques Simard, Per Hall, Gemo Study Collaborators, Georgia Chenevix-Trench, Å. (Åke) Borg, Antonis C. (Antonis C.) Antoniou, Hebon, Douglas F. (Douglas F.) Easton, K. ConFab Investigators, Stacey L. (Stacey) Edwards, Edwards Sl

Show less

This paper is made freely available by the publisher.

Full text: Download

Preprint: archiving allowed

Upload

Postprint: archiving restricted

Upload

Published version: archiving forbidden

Policy details

Data provided by

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.

Published in

Links

Tools

Breast cancer risk variants at 6q25 display different phenotype associations and regulate ESR1, RMND1 and CCDC170

Abstract