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

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Breast cancer risk variants at 6q25 display different phenotype associations and regulate ESR1, RMND1 and CCDC170. / Dunning, Alison M.; Michailidou, Kyriaki; Kuchenbaecker, Karoline B.; Thompson, Deborah J.; 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; KBolla, Manjeet; Dennis, Joe G.; Wang, Qin; LHopper, John; 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, Thérse; Bojesen, Stig E.; Flyger, Henrik; Gonzlez-Neira, Anna; Perez, Jose I.A.; Anton-Culver, Hoda; Eunjung, Lee; Arndt, Volker; Brenner, Hermann; Meindl, Alfons; Schmutzler, Rita K.; Brauch, Hiltrud; Hamann, Ute; Aittomki, 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; EOlson, Janet; GGiles, Graham; 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; Pylks, 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 R; 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; OHansen, Thomas V.; 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; MClaes, Kathleen B.; 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.; Kyung Park, Sue; Lindor, Noralane M.; Couch, Fergus J.; Tischkowitz, Marc; Foretova, Lenka; Vijai, Joseph; Offit, Kenneth; Singer, Christian F.; Rappaport, Christine; MPhelan, Catherine; 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.; LNathanson, Katherine; 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 N; Khaw, Kay Tee; Helland, Slaug; Haakensen, Vilde; Dowsett, Mitch; Pharoah, Paul D.P.; Simard, Jacques; Hall, Per; Garca-Closas, Montserrat; Vachon, Celine; Chenevix-Trench, Georgia; Antoniou, Antonis C.; Easton, Douglas F.; Edwards, Stacey L.

In: Nature Genetics, Vol. 48, No. 4, 29.03.2016, p. 374-386.

Research output: Contribution to journalArticle

Harvard

Dunning, AM, Michailidou, K, Kuchenbaecker, KB, Thompson, DJ, French, JD, Beesley, J, Healey, CS, Kar, S, Pooley, KA, Lopez-Knowles, E, Dicks, E, Barrowdale, D, Sinnott-Armstrong, NA, Sallari, RC, Hillman, KM, Kaufmann, S, Sivakumaran, H, Marjaneh, MM, Lee, JS, Hills, M, Jarosz, M, Drury, S, Canisius, S, KBolla, M, Dennis, JG, Wang, Q, LHopper, J, Southey, MC, Broeks, A, Schmidt, MK, Lophatananon, A, Muir, K, Beckmann, MW, Fasching, PA, Dos-Santos-Silva, I, Peto, J, Sawyer, EJ, Tomlinson, I, Burwinkel, B, Marme, F, Guénel, P, Truong, T, Bojesen, SE, Flyger, H, Gonzlez-Neira, A, Perez, JIA, Anton-Culver, H, Eunjung, L, Arndt, V, Brenner, H, Meindl, A, Schmutzler, RK, Brauch, H, Hamann, U, Aittomki, K, Blomqvist, C, Ito, H, Matsuo, K, Bogdanova, N, Dörk, T, Lindblom, A, Margolin, S, Kosma, VM, Mannermaa, A, Tseng, CC, Wu, AH, Lambrechts, D, Wildiers, H, Chang-Claude, J, Rudolph, A, Peterlongo, P, Radice, P, EOlson, J, GGiles, G, Milne, RL, Haiman, CA, Henderson, BE, Goldberg, MS, Teo, SH, Yip, CH, Nord, S, Borresen-Dale, AL, Kristensen, V, Long, J, Zheng, W, Pylks, K, Winqvist, R, Andrulis, IL, Knight, JA, Devilee, P, Seynaeve, C, Figueroa, J, Sherman, ME, Czene, K, Darabi, H, Hollestelle, A, Van Den Ouweland, AMW, Humphreys, K, Gao, YT, Shu, XO, Cox, A, Cross, SS, Blot, W, Cai, Q, Ghoussaini, M, Perkins, BJ, Shah, M, Choi, JY, Kang, D, Lee, SC, Hartman, M, Kabisch, M, Torres, D, Jakubowska, A, Lubinski, J, Brennan, P, Sangrajrang, S, Ambrosone, CB, Toland, AE, Shen, CY, Wu, PE, Orr, N, Swerdlow, A, McGuffog, L, Healey, S, Lee, AR, Kapuscinski, M, John, EM, Terry, MB, Daly, MB, Goldgar, DE, Buys, SS, Janavicius, R, Tihomirova, L, Tung, N, Dorfling, CM, Van Rensburg, EJ, Neuhausen, SL, Ejlertsen, B, OHansen, TV, Osorio, A, Benitez, J, Rando, R, Weitzel, JN, Bonanni, B, Peissel, B, Manoukian, S, Papi, L, Ottini, L, Konstantopoulou, I, Apostolou, P, Garber, J, Rashid, MU, Frost, D, Izatt, L, Ellis, S, Godwin, AK, Arnold, N, Niederacher, D, Rhiem, K, Bogdanova-Markov, N, Sagne, C, Stoppa-Lyonnet, D, Damiola, F, Sinilnikova, OM, Mazoyer, S, Isaacs, C, MClaes, KB, De Leeneer, K, De La Hoya, M, Caldes, T, Nevanlinna, H, Khan, S, Mensenkamp, AR, Hooning, MJ, Rookus, MA, Kwong, A, Olah, E, Diez, O, Brunet, J, Pujana, MA, Gronwald, J, Huzarski, T, Barkardottir, RB, Laframboise, R, Soucy, P, Montagna, M, Agata, S, Teixeira, MR, Kyung Park, S, Lindor, NM, Couch, FJ, Tischkowitz, M, Foretova, L, Vijai, J, Offit, K, Singer, CF, Rappaport, C, MPhelan, C, Greene, MH, Mai, PL, Rennert, G, Imyanitov, EN, Hulick, PJ, Phillips, KA, Piedmonte, M, Mulligan, AM, Glendon, G, Bojesen, A, Thomassen, M, Caligo, MA, Yoon, SY, Friedman, E, Laitman, Y, Borg, A, Von Wachenfeldt, A, Ehrencrona, H, Rantala, J, Olopade, OI, Ganz, PA, Nussbaum, RL, Gayther, SA, LNathanson, K, Domchek, SM, Arun, BK, Mitchell, G, Karlan, BY, Lester, J, Maskarinec, G, Woolcott, C, Scott, C, Stone, J, Apicella, C, Tamimi, R, Luben, RN, Khaw, KT, Helland, S, Haakensen, V, Dowsett, M, Pharoah, PDP, Simard, J, Hall, P, Garca-Closas, M, Vachon, C, Chenevix-Trench, G, Antoniou, AC, Easton, DF & Edwards, SL 2016, 'Breast cancer risk variants at 6q25 display different phenotype associations and regulate ESR1, RMND1 and CCDC170' Nature Genetics, vol 48, no. 4, pp. 374-386. DOI: 10.1038/ng.3521

APA

Dunning, A. M., Michailidou, K., Kuchenbaecker, K. B., Thompson, D. J., French, J. D., Beesley, J., ... Edwards, S. L. (2016). Breast cancer risk variants at 6q25 display different phenotype associations and regulate ESR1, RMND1 and CCDC170. Nature Genetics, 48(4), 374-386. DOI: 10.1038/ng.3521

Vancouver

Dunning AM, Michailidou K, Kuchenbaecker KB, Thompson DJ, French JD, Beesley J et al. Breast cancer risk variants at 6q25 display different phenotype associations and regulate ESR1, RMND1 and CCDC170. Nature Genetics. 2016 Mar 29;48(4):374-386. Available from, DOI: 10.1038/ng.3521

Author

Dunning, Alison M.; Michailidou, Kyriaki; Kuchenbaecker, Karoline B.; Thompson, Deborah J.; 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; KBolla, Manjeet; Dennis, Joe G.; Wang, Qin; LHopper, John; 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, Thérse; Bojesen, Stig E.; Flyger, Henrik; Gonzlez-Neira, Anna; Perez, Jose I.A.; Anton-Culver, Hoda; Eunjung, Lee; Arndt, Volker; Brenner, Hermann; Meindl, Alfons; Schmutzler, Rita K.; Brauch, Hiltrud; Hamann, Ute; Aittomki, 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; EOlson, Janet; GGiles, Graham; 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; Pylks, 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 R; 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; OHansen, Thomas V.; 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; MClaes, Kathleen B.; 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.; Kyung Park, Sue; Lindor, Noralane M.; Couch, Fergus J.; Tischkowitz, Marc; Foretova, Lenka; Vijai, Joseph; Offit, Kenneth; Singer, Christian F.; Rappaport, Christine; MPhelan, Catherine; 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.; LNathanson, Katherine; 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 N; Khaw, Kay Tee; Helland, Slaug; Haakensen, Vilde; Dowsett, Mitch; Pharoah, Paul D.P.; Simard, Jacques; Hall, Per; Garca-Closas, Montserrat; Vachon, Celine; Chenevix-Trench, Georgia; Antoniou, Antonis C.; Easton, Douglas F.; Edwards, Stacey L. / Breast cancer risk variants at 6q25 display different phenotype associations and regulate ESR1, RMND1 and CCDC170.

In: Nature Genetics, Vol. 48, No. 4, 29.03.2016, p. 374-386.

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@article{879b0e6c024d4386880182ef1bbd999e,
title = "Breast cancer risk variants at 6q25 display different phenotype associations and regulate ESR1, RMND1 and CCDC170",
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 = "Dunning, {Alison M.} and Kyriaki Michailidou and Kuchenbaecker, {Karoline B.} and Thompson, {Deborah J.} and French, {Juliet D.} and Jonathan Beesley and Healey, {Catherine S.} and Siddhartha Kar and Pooley, {Karen A.} and Elena Lopez-Knowles and Ed Dicks and Daniel Barrowdale and Sinnott-Armstrong, {Nicholas A.} and Sallari, {Richard C.} and Hillman, {Kristine M.} and Susanne Kaufmann and Haran Sivakumaran and Marjaneh, {Mahdi Moradi} and Lee, {Jason S.} and Margaret Hills and Monika Jarosz and Suzie Drury and Sander Canisius and Manjeet KBolla and Dennis, {Joe G.} and Qin Wang and John LHopper and Southey, {Melissa C.} and Annegien Broeks and Schmidt, {Marjanka K.} and Artitaya Lophatananon and Kenneth Muir and Beckmann, {Matthias W.} and Fasching, {Peter A.} and Isabel Dos-Santos-Silva and Julian Peto and Sawyer, {Elinor J.} and Ian Tomlinson and Barbara Burwinkel and Frederik Marme and Pascal Guénel and Thérse Truong and Bojesen, {Stig E.} and Henrik Flyger and Anna Gonzlez-Neira and Perez, {Jose I.A.} and Hoda Anton-Culver and Lee Eunjung and Volker Arndt and Hermann Brenner and Alfons Meindl and Schmutzler, {Rita K.} and Hiltrud Brauch and Ute Hamann and Kristiina Aittomki and Carl Blomqvist and Hidemi Ito and Keitaro Matsuo and Natasha Bogdanova and Thilo Dörk and Annika Lindblom and Sara Margolin and Kosma, {Veli Matti} and Arto Mannermaa and Tseng, {Chiu Chen} and Wu, {Anna H.} and Diether Lambrechts and Hans Wildiers and Jenny Chang-Claude and Anja Rudolph and Paolo Peterlongo and Paolo Radice and Janet EOlson and Graham GGiles and Milne, {Roger L.} and Haiman, {Christopher A.} and Henderson, {Brian E.} and Goldberg, {Mark S.} and Teo, {Soo H.} and Yip, {Cheng Har} and Silje Nord and Borresen-Dale, {Anne Lise} and Vessela Kristensen and Jirong Long and Wei Zheng and Katri Pylks and Robert Winqvist and Andrulis, {Irene L.} and Knight, {Julia A.} and Peter Devilee and Caroline Seynaeve and Jonine Figueroa and Sherman, {Mark E.} and Kamila Czene and Hatef Darabi and Antoinette Hollestelle and {Van Den Ouweland}, {Ans M.W.} and Keith Humphreys and Gao, {Yu Tang} and Shu, {Xiao Ou} and Angela Cox and Cross, {Simon S.} and William Blot and Qiuyin Cai and Maya Ghoussaini and Perkins, {Barbara J.} and Mitul Shah and Choi, {Ji Yeob} and Daehee Kang and Lee, {Soo Chin} and Mikael Hartman and Maria Kabisch and Diana Torres and Anna Jakubowska and Jan Lubinski and Paul Brennan and Suleeporn Sangrajrang and Ambrosone, {Christine B.} and Toland, {Amanda E.} and Shen, {Chen Yang} and Wu, {Pei Ei} and Nick Orr and Anthony Swerdlow and Lesley McGuffog and Sue Healey and Lee, {Andrew R} and Miroslav Kapuscinski and John, {Esther M.} and Terry, {Mary Beth} and Daly, {Mary B.} and Goldgar, {David E.} and Buys, {Saundra S.} and Ramunas Janavicius and Laima Tihomirova and Nadine Tung and Dorfling, {Cecilia M.} and {Van Rensburg}, {Elizabeth J.} and Neuhausen, {Susan L.} and Bent Ejlertsen and OHansen, {Thomas V.} and Ana Osorio and Javier Benitez and Rachel Rando and Weitzel, {Jeffrey N.} and Bernardo Bonanni and Bernard Peissel and Siranoush Manoukian and Laura Papi and Laura Ottini and Irene Konstantopoulou and Paraskevi Apostolou and Judy Garber and Rashid, {Muhammad Usman} and Debra Frost and Louise Izatt and Steve Ellis and Godwin, {Andrew K.} and Norbert Arnold and Dieter Niederacher and Kerstin Rhiem and Nadja Bogdanova-Markov and Charlotte Sagne and Dominique Stoppa-Lyonnet and Francesca Damiola and Sinilnikova, {Olga M.} and Sylvie Mazoyer and Claudine Isaacs and MClaes, {Kathleen B.} and {De Leeneer}, Kim and {De La Hoya}, Miguel and Trinidad Caldes and Heli Nevanlinna and Sofia Khan and Mensenkamp, {Arjen R.} and Hooning, {Maartje J.} and Rookus, {Matti A.} and Ava Kwong and Edith Olah and Orland Diez and Joan Brunet and Pujana, {Miquel Angel} and Jacek Gronwald and Tomasz Huzarski and Barkardottir, {Rosa B.} and Rachel Laframboise and Penny Soucy and Marco Montagna and Simona Agata and Teixeira, {Manuel R.} and {Kyung Park}, Sue and Lindor, {Noralane M.} and Couch, {Fergus J.} and Marc Tischkowitz and Lenka Foretova and Joseph Vijai and Kenneth Offit and Singer, {Christian F.} and Christine Rappaport and Catherine MPhelan and Greene, {Mark H.} and Mai, {Phuong L.} and Gad Rennert and Imyanitov, {Evgeny N.} and Hulick, {Peter J.} and Phillips, {Kelly Anne} and Marion Piedmonte and Mulligan, {Anna Marie} and Gord Glendon and Anders Bojesen and Mads Thomassen and Caligo, {Maria A.} and Yoon, {Sook Yee} and Eitan Friedman and Yael Laitman and Ake Borg and {Von Wachenfeldt}, Anna and Hans Ehrencrona and Johanna Rantala and Olopade, {Olufunmilayo I.} and Ganz, {Patricia A.} and Nussbaum, {Robert L.} and Gayther, {Simon A.} and Katherine LNathanson and Domchek, {Susan M.} and Arun, {Banu K.} and Gillian Mitchell and Karlan, {Beth Y.} and Jenny Lester and Gertraud Maskarinec and Christy Woolcott and Christopher Scott and Jennifer Stone and Carmel Apicella and Rulla Tamimi and Luben, {Robert N} and Khaw, {Kay Tee} and Slaug Helland and Vilde Haakensen and Mitch Dowsett and Pharoah, {Paul D.P.} and Jacques Simard and Per Hall and Montserrat Garca-Closas and Celine Vachon and Georgia Chenevix-Trench and Antoniou, {Antonis C.} and Easton, {Douglas F.} and Edwards, {Stacey L.}",
year = "2016",
month = "3",
doi = "10.1038/ng.3521",
volume = "48",
pages = "374--386",
journal = "Nature Genetics",
issn = "1061-4036",
publisher = "Nature Publishing Group",
number = "4",

}

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TY - JOUR

T1 - Breast cancer risk variants at 6q25 display different phenotype associations and regulate ESR1, RMND1 and CCDC170

AU - Dunning,Alison M.

AU - Michailidou,Kyriaki

AU - Kuchenbaecker,Karoline B.

AU - Thompson,Deborah J.

AU - French,Juliet D.

AU - Beesley,Jonathan

AU - Healey,Catherine S.

AU - Kar,Siddhartha

AU - Pooley,Karen A.

AU - Lopez-Knowles,Elena

AU - Dicks,Ed

AU - Barrowdale,Daniel

AU - Sinnott-Armstrong,Nicholas A.

AU - Sallari,Richard C.

AU - Hillman,Kristine M.

AU - Kaufmann,Susanne

AU - Sivakumaran,Haran

AU - Marjaneh,Mahdi Moradi

AU - Lee,Jason S.

AU - Hills,Margaret

AU - Jarosz,Monika

AU - Drury,Suzie

AU - Canisius,Sander

AU - KBolla,Manjeet

AU - Dennis,Joe G.

AU - Wang,Qin

AU - LHopper,John

AU - Southey,Melissa C.

AU - Broeks,Annegien

AU - Schmidt,Marjanka K.

AU - Lophatananon,Artitaya

AU - Muir,Kenneth

AU - Beckmann,Matthias W.

AU - Fasching,Peter A.

AU - Dos-Santos-Silva,Isabel

AU - Peto,Julian

AU - Sawyer,Elinor J.

AU - Tomlinson,Ian

AU - Burwinkel,Barbara

AU - Marme,Frederik

AU - Guénel,Pascal

AU - Truong,Thérse

AU - Bojesen,Stig E.

AU - Flyger,Henrik

AU - Gonzlez-Neira,Anna

AU - Perez,Jose I.A.

AU - Anton-Culver,Hoda

AU - Eunjung,Lee

AU - Arndt,Volker

AU - Brenner,Hermann

AU - Meindl,Alfons

AU - Schmutzler,Rita K.

AU - Brauch,Hiltrud

AU - Hamann,Ute

AU - Aittomki,Kristiina

AU - Blomqvist,Carl

AU - Ito,Hidemi

AU - Matsuo,Keitaro

AU - Bogdanova,Natasha

AU - Dörk,Thilo

AU - Lindblom,Annika

AU - Margolin,Sara

AU - Kosma,Veli Matti

AU - Mannermaa,Arto

AU - Tseng,Chiu Chen

AU - Wu,Anna H.

AU - Lambrechts,Diether

AU - Wildiers,Hans

AU - Chang-Claude,Jenny

AU - Rudolph,Anja

AU - Peterlongo,Paolo

AU - Radice,Paolo

AU - EOlson,Janet

AU - GGiles,Graham

AU - Milne,Roger L.

AU - Haiman,Christopher A.

AU - Henderson,Brian E.

AU - Goldberg,Mark S.

AU - Teo,Soo H.

AU - Yip,Cheng Har

AU - Nord,Silje

AU - Borresen-Dale,Anne Lise

AU - Kristensen,Vessela

AU - Long,Jirong

AU - Zheng,Wei

AU - Pylks,Katri

AU - Winqvist,Robert

AU - Andrulis,Irene L.

AU - Knight,Julia A.

AU - Devilee,Peter

AU - Seynaeve,Caroline

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AU - Easton,Douglas F.

AU - Edwards,Stacey L.

PY - 2016/3/29

Y1 - 2016/3/29

N2 - 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.

AB - 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.

UR - http://www.scopus.com/inward/record.url?scp=84962106221&partnerID=8YFLogxK

U2 - 10.1038/ng.3521

DO - 10.1038/ng.3521

M3 - Article

VL - 48

SP - 374

EP - 386

JO - Nature Genetics

T2 - Nature Genetics

JF - Nature Genetics

SN - 1061-4036

IS - 4

ER -

ID: 17696385