Functional mechanisms underlying pleiotropic risk alleles at the 19p13.1 breast-ovarian cancer susceptibility locus

Lawrenson, Kate; Kar, Siddhartha; McCue, Karen; Kuchenbaeker, Karoline B; Michailidou, Kyriaki; Tyrer, Jonathan; Beesley, Jonathan; Ramus, Susan J; Li, Qiyuan; Delgado, Melissa K; Lee, Janet M; Aittomäki, Kristiina; Andrulis, Irene L; Anton-Culver, Hoda; Arndt, Volker; Arun, Banu K; Arver, Brita; Bandera, Elisa V; Barile, Monica; Barkardottir, Rosa B; Barrowdale, Daniel; Beckmann, Matthias W; Benitez, Javier; Berchuck, Andrew; Bisogna, Maria; Bjorge, Line; Blomqvist, Carl; Blot, William; Bogdanova, Natalia; Bojesen, Anders; Bojesen, Stig E; Bolla, Manjeet K; Bonanni, Bernardo; Børresen-Dale, Anne-Lise; Brauch, Hiltrud; Brennan, Paul; Brenner, Hermann; Bruinsma, Fiona; Brunet, Joan; Buhari, Shaik Ahmad; Burwinkel, Barbara; Butzow, Ralf; Buys, Saundra S; Cai, Qiuyin; Caldes, Trinidad; Campbell, Ian; Canniotto, Rikki; Chang-Claude, Jenny; Chiquette, Jocelyne; Choi, Ji-Yeob; Claes, Kathleen B M; Cook, Linda S; Cox, Angela; Cramer, Daniel W; Cross, Simon S; Cybulski, Cezary; Czene, Kamila; Daly, Mary B; Damiola, Francesca; Dansonka-Mieszkowska, Agnieszka; Darabi, Hatef; Dennis, Joe; Devilee, Peter; Diez, Orland; Doherty, Jennifer A; Domchek, Susan M; Dorfling, Cecilia M; Dörk, Thilo; Dumont, Martine; Ehrencrona, Hans; Ejlertsen, Bent; Ellis, Steve; Engel, Christoph; Lee, Eunjung; Evans, D Gareth; Fasching, Peter A; Feliubadalo, Lidia; Figueroa, Jonine; Flesch-Janys, Dieter; Fletcher, Olivia; Flyger, Henrik; Foretova, Lenka; Fostira, Florentia; Foulkes, William D; Fridley, Brooke L; Friedman, Eitan; Frost, Debra; Gambino, Gaetana; Ganz, Patricia A; Garber, Judy; García-Closas, Montserrat; Gentry-Maharaj, Aleksandra; Ghoussaini, Maya; Giles, Graham G; Glasspool, Rosalind; Godwin, Andrew K; Goldberg, Mark S; Goldgar, David E; González-Neira A, Anna; Goode, Ellen L; Goodman, Marc T; Greene, Mark H; Gronwald, Jacek; Guénel, Pascal; Haiman, Christopher A; Hall, Per; Hallberg, Emily; Hamann, Ute; Hansen, Thomas V O; Harrington, Patricia A; Hartman, Mikael; Hassan, Norhashimah; Healey, Sue; Heitz, Florian; Herzog, Josef; Høgdall, Estrid; Høgdall, Claus K; Hogervorst, Frans B L; Hollestelle, Antoinette; Hopper, John L; Hulick, Peter J; Huzarski, Tomasz; Imyanitov, Evgeny N; Isaacs, Claudine; Ito, Hidemi; Jakubowska, Anna; Janavicius, Ramunas; Jensen, Allan; John, Esther M; Johnson, Nichola; Kabisch, Maria; Kang, Daehee; Kapuscinski, Miroslav; Karlan, Beth Y; Khan, Sofia; Kiemeney, Lambertus A; Kjaer, Susanne Kruger; Knight, Julia A; Konstantopoulou, Irene; Kosma, Veli-Matti; Kristensen, Vessela; Kupryjanczyk, Jolanta; Kwong, Ava; de la Hoya, Miguel; Laitman, Yael; Lambrechts, Diether; Le, Nhu; De Leeneer, Kim; Lester, Jenny; Levine, Douglas A; Li, Jingmei; Lindblom, Annika; Long, Jirong; Lophatananon, Artitaya; Loud, Jennifer T; Lu, Karen; Lubinski, Jan; Mannermaa, Arto; Manoukian, Siranoush; Le Marchand, Loic; Margolin, Sara; Marme, Frederik; Massuger, Leon F A G; Matsuo, Keitaro; Mazoyer, Sylvie; McGuffog, Lesley; McLean, Catriona; McNeish, Iain; Meindl, Alfons; Menon, Usha; Mensenkamp, Arjen R; Milne, Roger L; Montagna, Marco; Moysich, Kirsten B; Muir, Kenneth; Mulligan, Anna Marie; Nathanson, Katherine L; Ness, Roberta B; Neuhausen, Susan L; Nevanlinna, Heli; Nord, Silje; Nussbaum, Robert L; Odunsi, Kunle; Offit, Kenneth; Olah, Edith; Olopade, Olufunmilayo I; Olson, Janet E; Olswold, Curtis; O'Malley, David; Orlow, Irene; Orr, Nick; Osorio, Ana; Park, Sue Kyung; Pearce, Celeste L; Pejovic, Tanja; Peterlongo, Paolo; Pfeiler, Georg; Phelan, Catherine M; Poole, Elizabeth M; Pylkäs, Katri; Radice, Paolo; Rantala, Johanna; Rashid, Muhammad Usman; Rennert, Gad; Rhenius, Valerie; Rhiem, Kerstin; Risch, Harvey A; Rodriguez, Gus; Rossing, Mary Anne; Rudolph, Anja; Salvesen, Helga B; Sangrajrang, Suleeporn; Sawyer, Elinor J; Schildkraut, Joellen M; Schmidt, Marjanka K; Schmutzler, Rita K; Sellers, Thomas A; Seynaeve, Caroline; Shah, Mitul; Shen, Chen-Yang; Shu, Xiao-Ou; Sieh, Weiva; Singer, Christian F; Sinilnikova, Olga M; Slager, Susan; Song, Honglin; Soucy, Penny; Southey, Melissa C; Stenmark-Askmalm, Marie; Stoppa-Lyonnet, Dominique; Sutter, Christian; Swerdlow, Anthony; Tchatchou, Sandrine; Teixeira, Manuel R; Teo, Soo H; Terry, Kathryn L; Terry, Mary Beth; Thomassen, Mads; Tibiletti, Maria Grazia; Tihomirova, Laima; Tognazzo, Silvia; Toland, Amanda Ewart; Tomlinson, Ian; Torres, Diana; Truong, Thérèse; Tseng, Chiu-Chen; Tung, Nadine; Tworoger, Shelley S; Vachon, Celine; van den Ouweland, Ans M W; van Doorn, Helena C; van Rensburg, Elizabeth J; Van't Veer, Laura J; Vanderstichele, Adriaan; Vergote, Ignace; Vijai, Joseph; Wang, Qin; Wang-Gohrke, Shan; Weitzel, Jeffrey N; Wentzensen, Nicolas; Whittemore, Alice S; Wildiers, Hans; Winqvist, Robert; Wu, Anna H; Yannoukakos, Drakoulis; Yoon, Sook-Yee; Yu, Jyh-Cherng; Zheng, Wei; Zheng, Ying; Khanna, Kum Kum; Simard, Jacques; Monteiro, Alvaro N; French, Juliet D; Couch, Fergus J; Freedman, Matthew L; Easton, Douglas F; Dunning, Alison M; Pharoah, Paul D; Edwards, Stacey L; Chenevix-Trench, Georgia; Antoniou, Antonis C; Gayther, Simon A

Functional mechanisms underlying pleiotropic risk alleles at the 19p13.1 breast-ovarian cancer susceptibility locus

A locus at 19p13 is associated with breast cancer (BC) and ovarian cancer (OC) risk. Here we analyse 438 SNPs in this region in 46,451 BC and 15,438 OC cases, 15,252 BRCA1 mutation carriers and 73,444 controls and identify 13 candidate causal SNPs associated with serous OC (P=9.2 × 10(-20)), ER-nega...

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Detalles Bibliográficos
Autores:	Lawrenson, Kate, Kar, Siddhartha, McCue, Karen, Kuchenbaeker, Karoline B, Michailidou, Kyriaki, Tyrer, Jonathan, Beesley, Jonathan, Ramus, Susan J, Li, Qiyuan, Delgado, Melissa K, Lee, Janet M, Aittomäki, Kristiina, Andrulis, Irene L, Anton-Culver, Hoda, Arndt, Volker, Arun, Banu K, Arver, Brita, Bandera, Elisa V, Barile, Monica, Barkardottir, Rosa B, Barrowdale, Daniel, Beckmann, Matthias W, Benitez, Javier, Berchuck, Andrew, Bisogna, Maria, Bjorge, Line, Blomqvist, Carl, Blot, William, Bogdanova, Natalia, Bojesen, Anders, Bojesen, Stig E, Bolla, Manjeet K, Bonanni, Bernardo, Børresen-Dale, Anne-Lise, Brauch, Hiltrud, Brennan, Paul, Brenner, Hermann, Bruinsma, Fiona, Brunet, Joan, Buhari, Shaik Ahmad, Burwinkel, Barbara, Butzow, Ralf, Buys, Saundra S, Cai, Qiuyin, Caldes, Trinidad, Campbell, Ian, Canniotto, Rikki, Chang-Claude, Jenny, Chiquette, Jocelyne, Choi, Ji-Yeob, Claes, Kathleen B M, Cook, Linda S, Cox, Angela, Cramer, Daniel W, Cross, Simon S, Cybulski, Cezary, Czene, Kamila, Daly, Mary B, Damiola, Francesca, Dansonka-Mieszkowska, Agnieszka, Darabi, Hatef, Dennis, Joe, Devilee, Peter, Diez, Orland, Doherty, Jennifer A, Domchek, Susan M, Dorfling, Cecilia M, Dörk, Thilo, Dumont, Martine, Ehrencrona, Hans, Ejlertsen, Bent, Ellis, Steve, Engel, Christoph, Lee, Eunjung, Evans, D Gareth, Fasching, Peter A, Feliubadalo, Lidia, Figueroa, Jonine, Flesch-Janys, Dieter, Fletcher, Olivia, Flyger, Henrik, Foretova, Lenka, Fostira, Florentia, Foulkes, William D, Fridley, Brooke L, Friedman, Eitan, Frost, Debra, Gambino, Gaetana, Ganz, Patricia A, Garber, Judy, García-Closas, Montserrat, Gentry-Maharaj, Aleksandra, Ghoussaini, Maya, Giles, Graham G, Glasspool, Rosalind, Godwin, Andrew K, Goldberg, Mark S, Goldgar, David E, González-Neira A, Anna, Goode, Ellen L, Goodman, Marc T, Greene, Mark H, Gronwald, Jacek, Guénel, Pascal, Haiman, Christopher A, Hall, Per, Hallberg, Emily, Hamann, Ute, Hansen, Thomas V O, Harrington, Patricia A, Hartman, Mikael, Hassan, Norhashimah, Healey, Sue, Heitz, Florian, Herzog, Josef, Høgdall, Estrid, Høgdall, Claus K, Hogervorst, Frans B L, Hollestelle, Antoinette, Hopper, John L, Hulick, Peter J, Huzarski, Tomasz, Imyanitov, Evgeny N, Isaacs, Claudine, Ito, Hidemi, Jakubowska, Anna, Janavicius, Ramunas, Jensen, Allan, John, Esther M, Johnson, Nichola, Kabisch, Maria, Kang, Daehee, Kapuscinski, Miroslav, Karlan, Beth Y, Khan, Sofia, Kiemeney, Lambertus A, Kjaer, Susanne Kruger, Knight, Julia A, Konstantopoulou, Irene, Kosma, Veli-Matti, Kristensen, Vessela, Kupryjanczyk, Jolanta, Kwong, Ava, de la Hoya, Miguel, Laitman, Yael, Lambrechts, Diether, Le, Nhu, De Leeneer, Kim, Lester, Jenny, Levine, Douglas A, Li, Jingmei, Lindblom, Annika, Long, Jirong, Lophatananon, Artitaya, Loud, Jennifer T, Lu, Karen, Lubinski, Jan, Mannermaa, Arto, Manoukian, Siranoush, Le Marchand, Loic, Margolin, Sara, Marme, Frederik, Massuger, Leon F A G, Matsuo, Keitaro, Mazoyer, Sylvie, McGuffog, Lesley, McLean, Catriona, McNeish, Iain, Meindl, Alfons, Menon, Usha, Mensenkamp, Arjen R, Milne, Roger L, Montagna, Marco, Moysich, Kirsten B, Muir, Kenneth, Mulligan, Anna Marie, Nathanson, Katherine L, Ness, Roberta B, Neuhausen, Susan L, Nevanlinna, Heli, Nord, Silje, Nussbaum, Robert L, Odunsi, Kunle, Offit, Kenneth, Olah, Edith, Olopade, Olufunmilayo I, Olson, Janet E, Olswold, Curtis, O'Malley, David, Orlow, Irene, Orr, Nick, Osorio, Ana, Park, Sue Kyung, Pearce, Celeste L, Pejovic, Tanja, Peterlongo, Paolo, Pfeiler, Georg, Phelan, Catherine M, Poole, Elizabeth M, Pylkäs, Katri, Radice, Paolo, Rantala, Johanna, Rashid, Muhammad Usman, Rennert, Gad, Rhenius, Valerie, Rhiem, Kerstin, Risch, Harvey A, Rodriguez, Gus, Rossing, Mary Anne, Rudolph, Anja, Salvesen, Helga B, Sangrajrang, Suleeporn, Sawyer, Elinor J, Schildkraut, Joellen M, Schmidt, Marjanka K, Schmutzler, Rita K, Sellers, Thomas A, Seynaeve, Caroline, Shah, Mitul, Shen, Chen-Yang, Shu, Xiao-Ou, Sieh, Weiva, Singer, Christian F, Sinilnikova, Olga M, Slager, Susan, Song, Honglin, Soucy, Penny, Southey, Melissa C, Stenmark-Askmalm, Marie, Stoppa-Lyonnet, Dominique, Sutter, Christian, Swerdlow, Anthony, Tchatchou, Sandrine, Teixeira, Manuel R, Teo, Soo H, Terry, Kathryn L, Terry, Mary Beth, Thomassen, Mads, Tibiletti, Maria Grazia, Tihomirova, Laima, Tognazzo, Silvia, Toland, Amanda Ewart, Tomlinson, Ian, Torres, Diana, Truong, Thérèse, Tseng, Chiu-Chen, Tung, Nadine, Tworoger, Shelley S, Vachon, Celine, van den Ouweland, Ans M W, van Doorn, Helena C, van Rensburg, Elizabeth J, Van't Veer, Laura J, Vanderstichele, Adriaan, Vergote, Ignace, Vijai, Joseph, Wang, Qin, Wang-Gohrke, Shan, Weitzel, Jeffrey N, Wentzensen, Nicolas, Whittemore, Alice S, Wildiers, Hans, Winqvist, Robert, Wu, Anna H, Yannoukakos, Drakoulis, Yoon, Sook-Yee, Yu, Jyh-Cherng, Zheng, Wei, Zheng, Ying, Khanna, Kum Kum, Simard, Jacques, Monteiro, Alvaro N, French, Juliet D, Couch, Fergus J, Freedman, Matthew L, Easton, Douglas F, Dunning, Alison M, Pharoah, Paul D, Edwards, Stacey L, Chenevix-Trench, Georgia, Antoniou, Antonis C, Gayther, Simon A
Tipo de recurso:	artículo
Fecha de publicación:	2016
País:	España
Institución:	Instituto de Salud Carlos III (ISCIII)
Repositorio:	Repisalud
Idioma:	inglés
OAI Identifier:	oai:repisalud.isciii.es:20.500.12105/7876
Acceso en línea:	http://hdl.handle.net/20.500.12105/7876
Access Level:	acceso abierto
Palabra clave:	African Continental Ancestry Group Asian Continental Ancestry Group Breast Neoplasms Chromosomes, Human, Pair 19 Female Genome-Wide Association Study Genotype Humans Ovarian Neoplasms RNA, Messenger Alleles Genetic Predisposition to Disease Polymorphism, Single Nucleotide

id	ES_f43f652a5bf7cd8bca51dccb658f2c3c
oai_identifier_str	oai:repisalud.isciii.es:20.500.12105/7876
network_acronym_str	ES
network_name_str	España
repository_id_str
dc.title.none.fl_str_mv	Functional mechanisms underlying pleiotropic risk alleles at the 19p13.1 breast-ovarian cancer susceptibility locus
title	Functional mechanisms underlying pleiotropic risk alleles at the 19p13.1 breast-ovarian cancer susceptibility locus
spellingShingle	Functional mechanisms underlying pleiotropic risk alleles at the 19p13.1 breast-ovarian cancer susceptibility locus Lawrenson, Kate African Continental Ancestry Group Asian Continental Ancestry Group Breast Neoplasms Chromosomes, Human, Pair 19 Female Genome-Wide Association Study Genotype Humans Ovarian Neoplasms RNA, Messenger Alleles Genetic Predisposition to Disease Polymorphism, Single Nucleotide
title_short	Functional mechanisms underlying pleiotropic risk alleles at the 19p13.1 breast-ovarian cancer susceptibility locus
title_full	Functional mechanisms underlying pleiotropic risk alleles at the 19p13.1 breast-ovarian cancer susceptibility locus
title_fullStr	Functional mechanisms underlying pleiotropic risk alleles at the 19p13.1 breast-ovarian cancer susceptibility locus
title_full_unstemmed	Functional mechanisms underlying pleiotropic risk alleles at the 19p13.1 breast-ovarian cancer susceptibility locus
title_sort	Functional mechanisms underlying pleiotropic risk alleles at the 19p13.1 breast-ovarian cancer susceptibility locus
dc.creator.none.fl_str_mv	Lawrenson, Kate Kar, Siddhartha McCue, Karen Kuchenbaeker, Karoline B Michailidou, Kyriaki Tyrer, Jonathan Beesley, Jonathan Ramus, Susan J Li, Qiyuan Delgado, Melissa K Lee, Janet M Aittomäki, Kristiina Andrulis, Irene L Anton-Culver, Hoda Arndt, Volker Arun, Banu K Arver, Brita Bandera, Elisa V Barile, Monica Barkardottir, Rosa B Barrowdale, Daniel Beckmann, Matthias W Benitez, Javier Berchuck, Andrew Bisogna, Maria Bjorge, Line Blomqvist, Carl Blot, William Bogdanova, Natalia Bojesen, Anders Bojesen, Stig E Bolla, Manjeet K Bonanni, Bernardo Børresen-Dale, Anne-Lise Brauch, Hiltrud Brennan, Paul Brenner, Hermann Bruinsma, Fiona Brunet, Joan Buhari, Shaik Ahmad Burwinkel, Barbara Butzow, Ralf Buys, Saundra S Cai, Qiuyin Caldes, Trinidad Campbell, Ian Canniotto, Rikki Chang-Claude, Jenny Chiquette, Jocelyne Choi, Ji-Yeob Claes, Kathleen B M Cook, Linda S Cox, Angela Cramer, Daniel W Cross, Simon S Cybulski, Cezary Czene, Kamila Daly, Mary B Damiola, Francesca Dansonka-Mieszkowska, Agnieszka Darabi, Hatef Dennis, Joe Devilee, Peter Diez, Orland Doherty, Jennifer A Domchek, Susan M Dorfling, Cecilia M Dörk, Thilo Dumont, Martine Ehrencrona, Hans Ejlertsen, Bent Ellis, Steve Engel, Christoph Lee, Eunjung Evans, D Gareth Fasching, Peter A Feliubadalo, Lidia Figueroa, Jonine Flesch-Janys, Dieter Fletcher, Olivia Flyger, Henrik Foretova, Lenka Fostira, Florentia Foulkes, William D Fridley, Brooke L Friedman, Eitan Frost, Debra Gambino, Gaetana Ganz, Patricia A Garber, Judy García-Closas, Montserrat Gentry-Maharaj, Aleksandra Ghoussaini, Maya Giles, Graham G Glasspool, Rosalind Godwin, Andrew K Goldberg, Mark S Goldgar, David E González-Neira A, Anna Goode, Ellen L Goodman, Marc T Greene, Mark H Gronwald, Jacek Guénel, Pascal Haiman, Christopher A Hall, Per Hallberg, Emily Hamann, Ute Hansen, Thomas V O Harrington, Patricia A Hartman, Mikael Hassan, Norhashimah Healey, Sue Heitz, Florian Herzog, Josef Høgdall, Estrid Høgdall, Claus K Hogervorst, Frans B L Hollestelle, Antoinette Hopper, John L Hulick, Peter J Huzarski, Tomasz Imyanitov, Evgeny N Isaacs, Claudine Ito, Hidemi Jakubowska, Anna Janavicius, Ramunas Jensen, Allan John, Esther M Johnson, Nichola Kabisch, Maria Kang, Daehee Kapuscinski, Miroslav Karlan, Beth Y Khan, Sofia Kiemeney, Lambertus A Kjaer, Susanne Kruger Knight, Julia A Konstantopoulou, Irene Kosma, Veli-Matti Kristensen, Vessela Kupryjanczyk, Jolanta Kwong, Ava de la Hoya, Miguel Laitman, Yael Lambrechts, Diether Le, Nhu De Leeneer, Kim Lester, Jenny Levine, Douglas A Li, Jingmei Lindblom, Annika Long, Jirong Lophatananon, Artitaya Loud, Jennifer T Lu, Karen Lubinski, Jan Mannermaa, Arto Manoukian, Siranoush Le Marchand, Loic Margolin, Sara Marme, Frederik Massuger, Leon F A G Matsuo, Keitaro Mazoyer, Sylvie McGuffog, Lesley McLean, Catriona McNeish, Iain Meindl, Alfons Menon, Usha Mensenkamp, Arjen R Milne, Roger L Montagna, Marco Moysich, Kirsten B Muir, Kenneth Mulligan, Anna Marie Nathanson, Katherine L Ness, Roberta B Neuhausen, Susan L Nevanlinna, Heli Nord, Silje Nussbaum, Robert L Odunsi, Kunle Offit, Kenneth Olah, Edith Olopade, Olufunmilayo I Olson, Janet E Olswold, Curtis O'Malley, David Orlow, Irene Orr, Nick Osorio, Ana Park, Sue Kyung Pearce, Celeste L Pejovic, Tanja Peterlongo, Paolo Pfeiler, Georg Phelan, Catherine M Poole, Elizabeth M Pylkäs, Katri Radice, Paolo Rantala, Johanna Rashid, Muhammad Usman Rennert, Gad Rhenius, Valerie Rhiem, Kerstin Risch, Harvey A Rodriguez, Gus Rossing, Mary Anne Rudolph, Anja Salvesen, Helga B Sangrajrang, Suleeporn Sawyer, Elinor J Schildkraut, Joellen M Schmidt, Marjanka K Schmutzler, Rita K Sellers, Thomas A Seynaeve, Caroline Shah, Mitul Shen, Chen-Yang Shu, Xiao-Ou Sieh, Weiva Singer, Christian F Sinilnikova, Olga M Slager, Susan Song, Honglin Soucy, Penny Southey, Melissa C Stenmark-Askmalm, Marie Stoppa-Lyonnet, Dominique Sutter, Christian Swerdlow, Anthony Tchatchou, Sandrine Teixeira, Manuel R Teo, Soo H Terry, Kathryn L Terry, Mary Beth Thomassen, Mads Tibiletti, Maria Grazia Tihomirova, Laima Tognazzo, Silvia Toland, Amanda Ewart Tomlinson, Ian Torres, Diana Truong, Thérèse Tseng, Chiu-Chen Tung, Nadine Tworoger, Shelley S Vachon, Celine van den Ouweland, Ans M W van Doorn, Helena C van Rensburg, Elizabeth J Van't Veer, Laura J Vanderstichele, Adriaan Vergote, Ignace Vijai, Joseph Wang, Qin Wang-Gohrke, Shan Weitzel, Jeffrey N Wentzensen, Nicolas Whittemore, Alice S Wildiers, Hans Winqvist, Robert Wu, Anna H Yannoukakos, Drakoulis Yoon, Sook-Yee Yu, Jyh-Cherng Zheng, Wei Zheng, Ying Khanna, Kum Kum Simard, Jacques Monteiro, Alvaro N French, Juliet D Couch, Fergus J Freedman, Matthew L Easton, Douglas F Dunning, Alison M Pharoah, Paul D Edwards, Stacey L Chenevix-Trench, Georgia Antoniou, Antonis C Gayther, Simon A
author	Lawrenson, Kate
author_facet	Lawrenson, Kate Kar, Siddhartha McCue, Karen Kuchenbaeker, Karoline B Michailidou, Kyriaki Tyrer, Jonathan Beesley, Jonathan Ramus, Susan J Li, Qiyuan Delgado, Melissa K Lee, Janet M Aittomäki, Kristiina Andrulis, Irene L Anton-Culver, Hoda Arndt, Volker Arun, Banu K Arver, Brita Bandera, Elisa V Barile, Monica Barkardottir, Rosa B Barrowdale, Daniel Beckmann, Matthias W Benitez, Javier Berchuck, Andrew Bisogna, Maria Bjorge, Line Blomqvist, Carl Blot, William Bogdanova, Natalia Bojesen, Anders Bojesen, Stig E Bolla, Manjeet K Bonanni, Bernardo Børresen-Dale, Anne-Lise Brauch, Hiltrud Brennan, Paul Brenner, Hermann Bruinsma, Fiona Brunet, Joan Buhari, Shaik Ahmad Burwinkel, Barbara Butzow, Ralf Buys, Saundra S Cai, Qiuyin Caldes, Trinidad Campbell, Ian Canniotto, Rikki Chang-Claude, Jenny Chiquette, Jocelyne Choi, Ji-Yeob Claes, Kathleen B M Cook, Linda S Cox, Angela Cramer, Daniel W Cross, Simon S Cybulski, Cezary Czene, Kamila Daly, Mary B Damiola, Francesca Dansonka-Mieszkowska, Agnieszka Darabi, Hatef Dennis, Joe Devilee, Peter Diez, Orland Doherty, Jennifer A Domchek, Susan M Dorfling, Cecilia M Dörk, Thilo Dumont, Martine Ehrencrona, Hans Ejlertsen, Bent Ellis, Steve Engel, Christoph Lee, Eunjung Evans, D Gareth Fasching, Peter A Feliubadalo, Lidia Figueroa, Jonine Flesch-Janys, Dieter Fletcher, Olivia Flyger, Henrik Foretova, Lenka Fostira, Florentia Foulkes, William D Fridley, Brooke L Friedman, Eitan Frost, Debra Gambino, Gaetana Ganz, Patricia A Garber, Judy García-Closas, Montserrat Gentry-Maharaj, Aleksandra Ghoussaini, Maya Giles, Graham G Glasspool, Rosalind Godwin, Andrew K Goldberg, Mark S Goldgar, David E González-Neira A, Anna Goode, Ellen L Goodman, Marc T Greene, Mark H Gronwald, Jacek Guénel, Pascal Haiman, Christopher A Hall, Per Hallberg, Emily Hamann, Ute Hansen, Thomas V O Harrington, Patricia A Hartman, Mikael Hassan, Norhashimah Healey, Sue Heitz, Florian Herzog, Josef Høgdall, Estrid Høgdall, Claus K Hogervorst, Frans B L Hollestelle, Antoinette Hopper, John L Hulick, Peter J Huzarski, Tomasz Imyanitov, Evgeny N Isaacs, Claudine Ito, Hidemi Jakubowska, Anna Janavicius, Ramunas Jensen, Allan John, Esther M Johnson, Nichola Kabisch, Maria Kang, Daehee Kapuscinski, Miroslav Karlan, Beth Y Khan, Sofia Kiemeney, Lambertus A Kjaer, Susanne Kruger Knight, Julia A Konstantopoulou, Irene Kosma, Veli-Matti Kristensen, Vessela Kupryjanczyk, Jolanta Kwong, Ava de la Hoya, Miguel Laitman, Yael Lambrechts, Diether Le, Nhu De Leeneer, Kim Lester, Jenny Levine, Douglas A Li, Jingmei Lindblom, Annika Long, Jirong Lophatananon, Artitaya Loud, Jennifer T Lu, Karen Lubinski, Jan Mannermaa, Arto Manoukian, Siranoush Le Marchand, Loic Margolin, Sara Marme, Frederik Massuger, Leon F A G Matsuo, Keitaro Mazoyer, Sylvie McGuffog, Lesley McLean, Catriona McNeish, Iain Meindl, Alfons Menon, Usha Mensenkamp, Arjen R Milne, Roger L Montagna, Marco Moysich, Kirsten B Muir, Kenneth Mulligan, Anna Marie Nathanson, Katherine L Ness, Roberta B Neuhausen, Susan L Nevanlinna, Heli Nord, Silje Nussbaum, Robert L Odunsi, Kunle Offit, Kenneth Olah, Edith Olopade, Olufunmilayo I Olson, Janet E Olswold, Curtis O'Malley, David Orlow, Irene Orr, Nick Osorio, Ana Park, Sue Kyung Pearce, Celeste L Pejovic, Tanja Peterlongo, Paolo Pfeiler, Georg Phelan, Catherine M Poole, Elizabeth M Pylkäs, Katri Radice, Paolo Rantala, Johanna Rashid, Muhammad Usman Rennert, Gad Rhenius, Valerie Rhiem, Kerstin Risch, Harvey A Rodriguez, Gus Rossing, Mary Anne Rudolph, Anja Salvesen, Helga B Sangrajrang, Suleeporn Sawyer, Elinor J Schildkraut, Joellen M Schmidt, Marjanka K Schmutzler, Rita K Sellers, Thomas A Seynaeve, Caroline Shah, Mitul Shen, Chen-Yang Shu, Xiao-Ou Sieh, Weiva Singer, Christian F Sinilnikova, Olga M Slager, Susan Song, Honglin Soucy, Penny Southey, Melissa C Stenmark-Askmalm, Marie Stoppa-Lyonnet, Dominique Sutter, Christian Swerdlow, Anthony Tchatchou, Sandrine Teixeira, Manuel R Teo, Soo H Terry, Kathryn L Terry, Mary Beth Thomassen, Mads Tibiletti, Maria Grazia Tihomirova, Laima Tognazzo, Silvia Toland, Amanda Ewart Tomlinson, Ian Torres, Diana Truong, Thérèse Tseng, Chiu-Chen Tung, Nadine Tworoger, Shelley S Vachon, Celine van den Ouweland, Ans M W van Doorn, Helena C van Rensburg, Elizabeth J Van't Veer, Laura J Vanderstichele, Adriaan Vergote, Ignace Vijai, Joseph Wang, Qin Wang-Gohrke, Shan Weitzel, Jeffrey N Wentzensen, Nicolas Whittemore, Alice S Wildiers, Hans Winqvist, Robert Wu, Anna H Yannoukakos, Drakoulis Yoon, Sook-Yee Yu, Jyh-Cherng Zheng, Wei Zheng, Ying Khanna, Kum Kum Simard, Jacques Monteiro, Alvaro N French, Juliet D Couch, Fergus J Freedman, Matthew L Easton, Douglas F Dunning, Alison M Pharoah, Paul D Edwards, Stacey L Chenevix-Trench, Georgia Antoniou, Antonis C Gayther, Simon A
author_role	author
author2	Kar, Siddhartha McCue, Karen Kuchenbaeker, Karoline B Michailidou, Kyriaki Tyrer, Jonathan Beesley, Jonathan Ramus, Susan J Li, Qiyuan Delgado, Melissa K Lee, Janet M Aittomäki, Kristiina Andrulis, Irene L Anton-Culver, Hoda Arndt, Volker Arun, Banu K Arver, Brita Bandera, Elisa V Barile, Monica Barkardottir, Rosa B Barrowdale, Daniel Beckmann, Matthias W Benitez, Javier Berchuck, Andrew Bisogna, Maria Bjorge, Line Blomqvist, Carl Blot, William Bogdanova, Natalia Bojesen, Anders Bojesen, Stig E Bolla, Manjeet K Bonanni, Bernardo Børresen-Dale, Anne-Lise Brauch, Hiltrud Brennan, Paul Brenner, Hermann Bruinsma, Fiona Brunet, Joan Buhari, Shaik Ahmad Burwinkel, Barbara Butzow, Ralf Buys, Saundra S Cai, Qiuyin Caldes, Trinidad Campbell, Ian Canniotto, Rikki Chang-Claude, Jenny Chiquette, Jocelyne Choi, Ji-Yeob Claes, Kathleen B M Cook, Linda S Cox, Angela Cramer, Daniel W Cross, Simon S Cybulski, Cezary Czene, Kamila Daly, Mary B Damiola, Francesca Dansonka-Mieszkowska, Agnieszka Darabi, Hatef Dennis, Joe Devilee, Peter Diez, Orland Doherty, Jennifer A Domchek, Susan M Dorfling, Cecilia M Dörk, Thilo Dumont, Martine Ehrencrona, Hans Ejlertsen, Bent Ellis, Steve Engel, Christoph Lee, Eunjung Evans, D Gareth Fasching, Peter A Feliubadalo, Lidia Figueroa, Jonine Flesch-Janys, Dieter Fletcher, Olivia Flyger, Henrik Foretova, Lenka Fostira, Florentia Foulkes, William D Fridley, Brooke L Friedman, Eitan Frost, Debra Gambino, Gaetana Ganz, Patricia A Garber, Judy García-Closas, Montserrat Gentry-Maharaj, Aleksandra Ghoussaini, Maya Giles, Graham G Glasspool, Rosalind Godwin, Andrew K Goldberg, Mark S Goldgar, David E González-Neira A, Anna Goode, Ellen L Goodman, Marc T Greene, Mark H Gronwald, Jacek Guénel, Pascal Haiman, Christopher A Hall, Per Hallberg, Emily Hamann, Ute Hansen, Thomas V O Harrington, Patricia A Hartman, Mikael Hassan, Norhashimah Healey, Sue Heitz, Florian Herzog, Josef Høgdall, Estrid Høgdall, Claus K Hogervorst, Frans B L Hollestelle, Antoinette Hopper, John L Hulick, Peter J Huzarski, Tomasz Imyanitov, Evgeny N Isaacs, Claudine Ito, Hidemi Jakubowska, Anna Janavicius, Ramunas Jensen, Allan John, Esther M Johnson, Nichola Kabisch, Maria Kang, Daehee Kapuscinski, Miroslav Karlan, Beth Y Khan, Sofia Kiemeney, Lambertus A Kjaer, Susanne Kruger Knight, Julia A Konstantopoulou, Irene Kosma, Veli-Matti Kristensen, Vessela Kupryjanczyk, Jolanta Kwong, Ava de la Hoya, Miguel Laitman, Yael Lambrechts, Diether Le, Nhu De Leeneer, Kim Lester, Jenny Levine, Douglas A Li, Jingmei Lindblom, Annika Long, Jirong Lophatananon, Artitaya Loud, Jennifer T Lu, Karen Lubinski, Jan Mannermaa, Arto Manoukian, Siranoush Le Marchand, Loic Margolin, Sara Marme, Frederik Massuger, Leon F A G Matsuo, Keitaro Mazoyer, Sylvie McGuffog, Lesley McLean, Catriona McNeish, Iain Meindl, Alfons Menon, Usha Mensenkamp, Arjen R Milne, Roger L Montagna, Marco Moysich, Kirsten B Muir, Kenneth Mulligan, Anna Marie Nathanson, Katherine L Ness, Roberta B Neuhausen, Susan L Nevanlinna, Heli Nord, Silje Nussbaum, Robert L Odunsi, Kunle Offit, Kenneth Olah, Edith Olopade, Olufunmilayo I Olson, Janet E Olswold, Curtis O'Malley, David Orlow, Irene Orr, Nick Osorio, Ana Park, Sue Kyung Pearce, Celeste L Pejovic, Tanja Peterlongo, Paolo Pfeiler, Georg Phelan, Catherine M Poole, Elizabeth M Pylkäs, Katri Radice, Paolo Rantala, Johanna Rashid, Muhammad Usman Rennert, Gad Rhenius, Valerie Rhiem, Kerstin Risch, Harvey A Rodriguez, Gus Rossing, Mary Anne Rudolph, Anja Salvesen, Helga B Sangrajrang, Suleeporn Sawyer, Elinor J Schildkraut, Joellen M Schmidt, Marjanka K Schmutzler, Rita K Sellers, Thomas A Seynaeve, Caroline Shah, Mitul Shen, Chen-Yang Shu, Xiao-Ou Sieh, Weiva Singer, Christian F Sinilnikova, Olga M Slager, Susan Song, Honglin Soucy, Penny Southey, Melissa C Stenmark-Askmalm, Marie Stoppa-Lyonnet, Dominique Sutter, Christian Swerdlow, Anthony Tchatchou, Sandrine Teixeira, Manuel R Teo, Soo H Terry, Kathryn L Terry, Mary Beth Thomassen, Mads Tibiletti, Maria Grazia Tihomirova, Laima Tognazzo, Silvia Toland, Amanda Ewart Tomlinson, Ian Torres, Diana Truong, Thérèse Tseng, Chiu-Chen Tung, Nadine Tworoger, Shelley S Vachon, Celine van den Ouweland, Ans M W van Doorn, Helena C van Rensburg, Elizabeth J Van't Veer, Laura J Vanderstichele, Adriaan Vergote, Ignace Vijai, Joseph Wang, Qin Wang-Gohrke, Shan Weitzel, Jeffrey N Wentzensen, Nicolas Whittemore, Alice S Wildiers, Hans Winqvist, Robert Wu, Anna H Yannoukakos, Drakoulis Yoon, Sook-Yee Yu, Jyh-Cherng Zheng, Wei Zheng, Ying Khanna, Kum Kum Simard, Jacques Monteiro, Alvaro N French, Juliet D Couch, Fergus J Freedman, Matthew L Easton, Douglas F Dunning, Alison M Pharoah, Paul D Edwards, Stacey L Chenevix-Trench, Georgia Antoniou, Antonis C Gayther, Simon A
author2_role	author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author
dc.contributor.none.fl_str_mv	NIH - National Cancer Institute (NCI) (Estados Unidos) National Health and Medical Research Council (Australia) Victorian Health Promotion Foundation Dutch Cancer Society (Holanda) Breast Cancer Research Trust Lon V. Smith Foundation Federal Ministry of Education & Research (Alemania) California Breast Cancer Research Program German Cancer Aid Ministère de Économie, Innovation et Exportation (Canadá) Ministry of Higher Education (Malasia) National Medical Research Council (Singapur) Finlands Akademi (Finlandia) University of Oulu (Finlandia) Yorkshire Cancer Research Hellenic Cooperative Oncology Group California Cancer Research Program Canadian Institutes of Health Research Danish Cancer Society Ministry of Science and Higher Education (Polonia) United States Army Medical Research and Development Command Asociación Española Contra el Cáncer University of Kansas. Cancer Center (Estados Unidos) Hungarian Research Grants Instituto de Salud Carlos III Norwegian EEA Financial Mechanism Canadian Breast Cancer Network NIH - National Cancer Institute (NCI). Specialized Programs of Research Excellence (SPOREs) (Estados Unidos) Congressionally Directed Medical Research Programs (Estados Unidos) NRG Oncology National (Estados Unidos) Unión Europea. Comisión Europea. 7 Programa Marco
dc.subject.none.fl_str_mv	African Continental Ancestry Group Asian Continental Ancestry Group Breast Neoplasms Chromosomes, Human, Pair 19 Female Genome-Wide Association Study Genotype Humans Ovarian Neoplasms RNA, Messenger Alleles Genetic Predisposition to Disease Polymorphism, Single Nucleotide
topic	African Continental Ancestry Group Asian Continental Ancestry Group Breast Neoplasms Chromosomes, Human, Pair 19 Female Genome-Wide Association Study Genotype Humans Ovarian Neoplasms RNA, Messenger Alleles Genetic Predisposition to Disease Polymorphism, Single Nucleotide
description	A locus at 19p13 is associated with breast cancer (BC) and ovarian cancer (OC) risk. Here we analyse 438 SNPs in this region in 46,451 BC and 15,438 OC cases, 15,252 BRCA1 mutation carriers and 73,444 controls and identify 13 candidate causal SNPs associated with serous OC (P=9.2 × 10(-20)), ER-negative BC (P=1.1 × 10(-13)), BRCA1-associated BC (P=7.7 × 10(-16)) and triple negative BC (P-diff=2 × 10(-5)). Genotype-gene expression associations are identified for candidate target genes ANKLE1 (P=2 × 10(-3)) and ABHD8 (P<2 × 10(-3)). Chromosome conformation capture identifies interactions between four candidate SNPs and ABHD8, and luciferase assays indicate six risk alleles increased transactivation of the ADHD8 promoter. Targeted deletion of a region containing risk SNP rs56069439 in a putative enhancer induces ANKLE1 downregulation; and mRNA stability assays indicate functional effects for an ANKLE1 3'-UTR SNP. Altogether, these data suggest that multiple SNPs at 19p13 regulate ABHD8 and perhaps ANKLE1 expression, and indicate common mechanisms underlying breast and ovarian cancer risk.
publishDate	2016
dc.date.none.fl_str_mv	2016 2016-01-01 2016 2016-01-01 2019 2019-07-09
dc.type.none.fl_str_mv	journal article http://purl.org/coar/resource_type/c_6501 VoR http://purl.org/coar/version/c_970fb48d4fbd8a85
dc.type.openaire.fl_str_mv	info:eu-repo/semantics/article
format	article
dc.identifier.none.fl_str_mv	http://hdl.handle.net/20.500.12105/7876
url	http://hdl.handle.net/20.500.12105/7876
dc.language.none.fl_str_mv	Inglés eng
language_invalid_str_mv	Inglés
language	eng
dc.relation.none.fl_str_mv	ES RD12 0036 ES 12 00539 ES AECC08 Not available ES PI11 00923 ES PI12 00070
dc.rights.none.fl_str_mv	open access http://purl.org/coar/access_right/c_abf2 Atribución-NoComercial-CompartirIgual 4.0 Internacional http://creativecommons.org/licenses/by-nc-sa/4.0/
dc.rights.openaire.fl_str_mv	info:eu-repo/semantics/openAccess
rights_invalid_str_mv	open access http://purl.org/coar/access_right/c_abf2 Atribución-NoComercial-CompartirIgual 4.0 Internacional http://creativecommons.org/licenses/by-nc-sa/4.0/
eu_rights_str_mv	openAccess
dc.format.none.fl_str_mv	application/pdf application/vnd.openxmlformats-officedocument.spreadsheetml.sheet application/vnd.openxmlformats-officedocument.spreadsheetml.sheet application/vnd.openxmlformats-officedocument.spreadsheetml.sheet
dc.publisher.none.fl_str_mv	Nature Publishing Group
publisher.none.fl_str_mv	Nature Publishing Group
dc.source.none.fl_str_mv	reponame:Repisalud instname:Instituto de Salud Carlos III (ISCIII)
instname_str	Instituto de Salud Carlos III (ISCIII)
reponame_str	Repisalud
collection	Repisalud
repository.name.fl_str_mv
repository.mail.fl_str_mv
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spelling	Functional mechanisms underlying pleiotropic risk alleles at the 19p13.1 breast-ovarian cancer susceptibility locusLawrenson, KateKar, SiddharthaMcCue, KarenKuchenbaeker, Karoline BMichailidou, KyriakiTyrer, JonathanBeesley, JonathanRamus, Susan JLi, QiyuanDelgado, Melissa KLee, Janet MAittomäki, KristiinaAndrulis, Irene LAnton-Culver, HodaArndt, VolkerArun, Banu KArver, BritaBandera, Elisa VBarile, MonicaBarkardottir, Rosa BBarrowdale, DanielBeckmann, Matthias WBenitez, JavierBerchuck, AndrewBisogna, MariaBjorge, LineBlomqvist, CarlBlot, WilliamBogdanova, NataliaBojesen, AndersBojesen, Stig EBolla, Manjeet KBonanni, BernardoBørresen-Dale, Anne-LiseBrauch, HiltrudBrennan, PaulBrenner, HermannBruinsma, FionaBrunet, JoanBuhari, Shaik AhmadBurwinkel, BarbaraButzow, RalfBuys, Saundra SCai, QiuyinCaldes, TrinidadCampbell, IanCanniotto, RikkiChang-Claude, JennyChiquette, JocelyneChoi, Ji-YeobClaes, Kathleen B MCook, Linda SCox, AngelaCramer, Daniel WCross, Simon SCybulski, CezaryCzene, KamilaDaly, Mary BDamiola, FrancescaDansonka-Mieszkowska, AgnieszkaDarabi, HatefDennis, JoeDevilee, PeterDiez, OrlandDoherty, Jennifer ADomchek, Susan MDorfling, Cecilia MDörk, ThiloDumont, MartineEhrencrona, HansEjlertsen, BentEllis, SteveEngel, ChristophLee, EunjungEvans, D GarethFasching, Peter AFeliubadalo, LidiaFigueroa, JonineFlesch-Janys, DieterFletcher, OliviaFlyger, HenrikForetova, LenkaFostira, FlorentiaFoulkes, William DFridley, Brooke LFriedman, EitanFrost, DebraGambino, GaetanaGanz, Patricia AGarber, JudyGarcía-Closas, MontserratGentry-Maharaj, AleksandraGhoussaini, MayaGiles, Graham GGlasspool, RosalindGodwin, Andrew KGoldberg, Mark SGoldgar, David EGonzález-Neira A, AnnaGoode, Ellen LGoodman, Marc TGreene, Mark HGronwald, JacekGuénel, PascalHaiman, Christopher AHall, PerHallberg, EmilyHamann, UteHansen, Thomas V OHarrington, Patricia AHartman, MikaelHassan, NorhashimahHealey, SueHeitz, FlorianHerzog, JosefHøgdall, EstridHøgdall, Claus KHogervorst, Frans B LHollestelle, AntoinetteHopper, John LHulick, Peter JHuzarski, TomaszImyanitov, Evgeny NIsaacs, ClaudineIto, HidemiJakubowska, AnnaJanavicius, RamunasJensen, AllanJohn, Esther MJohnson, NicholaKabisch, MariaKang, DaeheeKapuscinski, MiroslavKarlan, Beth YKhan, SofiaKiemeney, Lambertus AKjaer, Susanne KrugerKnight, Julia AKonstantopoulou, IreneKosma, Veli-MattiKristensen, VesselaKupryjanczyk, JolantaKwong, Avade la Hoya, MiguelLaitman, YaelLambrechts, DietherLe, NhuDe Leeneer, KimLester, JennyLevine, Douglas ALi, JingmeiLindblom, AnnikaLong, JirongLophatananon, ArtitayaLoud, Jennifer TLu, KarenLubinski, JanMannermaa, ArtoManoukian, SiranoushLe Marchand, LoicMargolin, SaraMarme, FrederikMassuger, Leon F A GMatsuo, KeitaroMazoyer, SylvieMcGuffog, LesleyMcLean, CatrionaMcNeish, IainMeindl, AlfonsMenon, UshaMensenkamp, Arjen RMilne, Roger LMontagna, MarcoMoysich, Kirsten BMuir, KennethMulligan, Anna MarieNathanson, Katherine LNess, Roberta BNeuhausen, Susan LNevanlinna, HeliNord, SiljeNussbaum, Robert LOdunsi, KunleOffit, KennethOlah, EdithOlopade, Olufunmilayo IOlson, Janet EOlswold, CurtisO'Malley, DavidOrlow, IreneOrr, NickOsorio, AnaPark, Sue KyungPearce, Celeste LPejovic, TanjaPeterlongo, PaoloPfeiler, GeorgPhelan, Catherine MPoole, Elizabeth MPylkäs, KatriRadice, PaoloRantala, JohannaRashid, Muhammad UsmanRennert, GadRhenius, ValerieRhiem, KerstinRisch, Harvey ARodriguez, GusRossing, Mary AnneRudolph, AnjaSalvesen, Helga BSangrajrang, SuleepornSawyer, Elinor JSchildkraut, Joellen MSchmidt, Marjanka KSchmutzler, Rita KSellers, Thomas ASeynaeve, CarolineShah, MitulShen, Chen-YangShu, Xiao-OuSieh, WeivaSinger, Christian FSinilnikova, Olga MSlager, SusanSong, HonglinSoucy, PennySouthey, Melissa CStenmark-Askmalm, MarieStoppa-Lyonnet, DominiqueSutter, ChristianSwerdlow, AnthonyTchatchou, SandrineTeixeira, Manuel RTeo, Soo HTerry, Kathryn LTerry, Mary BethThomassen, MadsTibiletti, Maria GraziaTihomirova, LaimaTognazzo, SilviaToland, Amanda EwartTomlinson, IanTorres, DianaTruong, ThérèseTseng, Chiu-ChenTung, NadineTworoger, Shelley SVachon, Celinevan den Ouweland, Ans M Wvan Doorn, Helena Cvan Rensburg, Elizabeth JVan't Veer, Laura JVanderstichele, AdriaanVergote, IgnaceVijai, JosephWang, QinWang-Gohrke, ShanWeitzel, Jeffrey NWentzensen, NicolasWhittemore, Alice SWildiers, HansWinqvist, RobertWu, Anna HYannoukakos, DrakoulisYoon, Sook-YeeYu, Jyh-CherngZheng, WeiZheng, YingKhanna, Kum KumSimard, JacquesMonteiro, Alvaro NFrench, Juliet DCouch, Fergus JFreedman, Matthew LEaston, Douglas FDunning, Alison MPharoah, Paul DEdwards, Stacey LChenevix-Trench, GeorgiaAntoniou, Antonis CGayther, Simon AAfrican Continental Ancestry GroupAsian Continental Ancestry GroupBreast NeoplasmsChromosomes, Human, Pair 19FemaleGenome-Wide Association StudyGenotypeHumansOvarian NeoplasmsRNA, MessengerAllelesGenetic Predisposition to DiseasePolymorphism, Single NucleotideA locus at 19p13 is associated with breast cancer (BC) and ovarian cancer (OC) risk. Here we analyse 438 SNPs in this region in 46,451 BC and 15,438 OC cases, 15,252 BRCA1 mutation carriers and 73,444 controls and identify 13 candidate causal SNPs associated with serous OC (P=9.2 × 10(-20)), ER-negative BC (P=1.1 × 10(-13)), BRCA1-associated BC (P=7.7 × 10(-16)) and triple negative BC (P-diff=2 × 10(-5)). Genotype-gene expression associations are identified for candidate target genes ANKLE1 (P=2 × 10(-3)) and ABHD8 (P<2 × 10(-3)). Chromosome conformation capture identifies interactions between four candidate SNPs and ABHD8, and luciferase assays indicate six risk alleles increased transactivation of the ADHD8 promoter. Targeted deletion of a region containing risk SNP rs56069439 in a putative enhancer induces ANKLE1 downregulation; and mRNA stability assays indicate functional effects for an ANKLE1 3'-UTR SNP. Altogether, these data suggest that multiple SNPs at 19p13 regulate ABHD8 and perhaps ANKLE1 expression, and indicate common mechanisms underlying breast and ovarian cancer risk.Nature Publishing GroupNIH - National Cancer Institute (NCI) (Estados Unidos)National Health and Medical Research Council (Australia)Victorian Health Promotion FoundationDutch Cancer Society (Holanda)Breast Cancer Research TrustLon V. Smith FoundationFederal Ministry of Education & Research (Alemania)California Breast Cancer Research ProgramGerman Cancer AidMinistère de Économie, Innovation et Exportation (Canadá)Ministry of Higher Education (Malasia)National Medical Research Council (Singapur)Finlands Akademi (Finlandia)University of Oulu (Finlandia)Yorkshire Cancer ResearchHellenic Cooperative Oncology GroupCalifornia Cancer Research ProgramCanadian Institutes of Health ResearchDanish Cancer SocietyMinistry of Science and Higher Education (Polonia)United States Army Medical Research and Development CommandAsociación Española Contra el CáncerUniversity of Kansas. Cancer Center (Estados Unidos)Hungarian Research GrantsInstituto de Salud Carlos IIINorwegian EEA Financial MechanismCanadian Breast Cancer NetworkNIH - National Cancer Institute (NCI). Specialized Programs of Research Excellence (SPOREs) (Estados Unidos)Congressionally Directed Medical Research Programs (Estados Unidos)NRG Oncology National (Estados Unidos)Unión Europea. Comisión Europea. 7 Programa Marco20192019-07-0920162016-01-0120162016-01-01journal articlehttp://purl.org/coar/resource_type/c_6501VoRhttp://purl.org/coar/version/c_970fb48d4fbd8a85info:eu-repo/semantics/articleapplication/pdfapplication/vnd.openxmlformats-officedocument.spreadsheetml.sheetapplication/vnd.openxmlformats-officedocument.spreadsheetml.sheetapplication/vnd.openxmlformats-officedocument.spreadsheetml.sheethttp://hdl.handle.net/20.500.12105/7876reponame:Repisaludinstname:Instituto de Salud Carlos III (ISCIII)InglésengES RD12 0036ES 12 00539ES AECC08 Not availableES PI11 00923ES PI12 00070open accesshttp://purl.org/coar/access_right/c_abf2Atribución-NoComercial-CompartirIgual 4.0 Internacionalhttp://creativecommons.org/licenses/by-nc-sa/4.0/info:eu-repo/semantics/openAccessoai:repisalud.isciii.es:20.500.12105/78762026-06-12T12:43:37Z
score	15,811543

Functional mechanisms underlying pleiotropic risk alleles at the 19p13.1 breast-ovarian cancer susceptibility locus

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