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Genome-wide association analysis identifies three new breast cancer susceptibility loci
Breast cancer is the most common cancer among women. To date, 22 common breast cancer susceptibility loci have been identified accounting for ~ 8% of the heritability of the disease. We followed up 72 promising associations from two independent Genome Wide Association Studies (GWAS) in ~70,000 cases...
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
2012
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| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3653403/ https://www.ncbi.nlm.nih.gov/pubmed/22267197 http://dx.doi.org/10.1038/ng.1049 |
| _version_ | 1782269413569855488 |
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| author | Ghoussaini, Maya Fletcher, Olivia Michailidou, Kyriaki Turnbull, Clare Schmidt, Marjanka K Dicks, Ed Dennis, Joe Wang, Qin Humphreys, Manjeet K Luccarini, Craig Baynes, Caroline Conroy, Don Maranian, Melanie Ahmed, Shahana Driver, Kristy Johnson, Nichola Orr, Nicholas Silva, Isabel dos Santos Waisfisz, Quinten Meijers-Heijboer, Hanne Uitterlinden, Andre G. Rivadeneira, Fernando Hall, Per Czene, Kamila Irwanto, Astrid Liu, Jianjun Nevanlinna, Heli Aittomäki, Kristiina Blomqvist, Carl Meindl, Alfons Schmutzler, Rita K Müller-Myhsok, Bertram Lichtner, Peter Chang-Claude, Jenny Hein, Rebecca Nickels, Stefan Flesch-Janys, Dieter Tsimiklis, Helen Makalic, Enes Schmidt, Daniel Bui, Minh Hopper, John L Apicella, Carmel Park, Daniel J Southey, Melissa Hunter, David J Chanock, Stephen J Broeks, Annegien Verhoef, Senno Hogervorst, Frans BL Fasching, Peter A. Lux, Michael P. Beckmann, Matthias W. Ekici, Arif B. Sawyer, Elinor Tomlinson, Ian Kerin, Michael Marme, Frederik Schneeweiss, Andreas Sohn, Christof Burwinkel, Barbara Guénel, Pascal Truong, Thérèse Cordina-Duverger, Emilie Menegaux, Florence Bojesen, Stig E Nordestgaard, Børge G Nielsen, Sune F Flyger, Henrik Milne, Roger L. Alonso, M. Rosario González-Neira, Anna Benítez, Javier Anton-Culver, Hoda Ziogas, Argyrios Bernstein, Leslie Dur, Christina Clarke Brenner, Hermann Müller, Heiko Arndt, Volker Stegmaier, Christa Justenhoven, Christina Brauch, Hiltrud Brüning, Thomas Wang-Gohrke, Shan Eilber, Ursula Dörk, Thilo Schürmann, Peter Bremer, Michael Hillemanns, Peter Bogdanova, Natalia V. Antonenkova, Natalia N. Rogov, Yuri I. Karstens, Johann H. Bermisheva, Marina Prokofieva, Darya Khusnutdinova, Elza Lindblom, Annika Margolin, Sara Mannermaa, Arto Kataja, Vesa Kosma, Veli-Matti Hartikainen, Jaana M Lambrechts, Diether Yesilyurt, Betul T. Floris, Giuseppe Leunen, Karin Manoukian, Siranoush Bonanni, Bernardo Fortuzzi, Stefano Peterlongo, Paolo Couch, Fergus J Wang, Xianshu Stevens, Kristen Lee, Adam Giles, Graham G. Baglietto, Laura Severi, Gianluca McLean, Catriona Alnæs, Grethe Grenaker Kristensen, Vessela Børrensen-Dale, Anne-Lise John, Esther M. Miron, Alexander Winqvist, Robert Pylkäs, Katri Jukkola-Vuorinen, Arja Kauppila, Saila Andrulis, Irene L. Glendon, Gord Mulligan, Anna Marie Devilee, Peter van Asperen, Christie J. Tollenaar, Rob A.E.M. Seynaeve, Caroline Figueroa, Jonine D Garcia-Closas, Montserrat Brinton, Louise Lissowska, Jolanta Hooning, Maartje J. Hollestelle, Antoinette Oldenburg, Rogier A. van den Ouweland, Ans M.W. Cox, Angela Reed, Malcolm WR Shah, Mitul Jakubowska, Ania Lubinski, Jan Jaworska, Katarzyna Durda, Katarzyna Jones, Michael Schoemaker, Minouk Ashworth, Alan Swerdlow, Anthony Beesley, Jonathan Chen, Xiaoqing Muir, Kenneth R Lophatananon, Artitaya Rattanamongkongul, Suthee Chaiwerawattana, Arkom Kang, Daehee Yoo, Keun-Young Noh, Dong-Young Shen, Chen-Yang Yu, Jyh-Cherng Wu, Pei-Ei Hsiung, Chia-Ni Perkins, Annie Swann, Ruth Velentzis, Louiza Eccles, Diana M Tapper, Will J Gerty, Susan M Graham, Nikki J Ponder, Bruce A. J. Chenevix-Trench, Georgia Pharoah, Paul D.P. Lathrop, Mark Dunning, Alison M. Rahman, Nazneen Peto, Julian Easton, Douglas F |
| author_facet | Ghoussaini, Maya Fletcher, Olivia Michailidou, Kyriaki Turnbull, Clare Schmidt, Marjanka K Dicks, Ed Dennis, Joe Wang, Qin Humphreys, Manjeet K Luccarini, Craig Baynes, Caroline Conroy, Don Maranian, Melanie Ahmed, Shahana Driver, Kristy Johnson, Nichola Orr, Nicholas Silva, Isabel dos Santos Waisfisz, Quinten Meijers-Heijboer, Hanne Uitterlinden, Andre G. Rivadeneira, Fernando Hall, Per Czene, Kamila Irwanto, Astrid Liu, Jianjun Nevanlinna, Heli Aittomäki, Kristiina Blomqvist, Carl Meindl, Alfons Schmutzler, Rita K Müller-Myhsok, Bertram Lichtner, Peter Chang-Claude, Jenny Hein, Rebecca Nickels, Stefan Flesch-Janys, Dieter Tsimiklis, Helen Makalic, Enes Schmidt, Daniel Bui, Minh Hopper, John L Apicella, Carmel Park, Daniel J Southey, Melissa Hunter, David J Chanock, Stephen J Broeks, Annegien Verhoef, Senno Hogervorst, Frans BL Fasching, Peter A. Lux, Michael P. Beckmann, Matthias W. Ekici, Arif B. Sawyer, Elinor Tomlinson, Ian Kerin, Michael Marme, Frederik Schneeweiss, Andreas Sohn, Christof Burwinkel, Barbara Guénel, Pascal Truong, Thérèse Cordina-Duverger, Emilie Menegaux, Florence Bojesen, Stig E Nordestgaard, Børge G Nielsen, Sune F Flyger, Henrik Milne, Roger L. Alonso, M. Rosario González-Neira, Anna Benítez, Javier Anton-Culver, Hoda Ziogas, Argyrios Bernstein, Leslie Dur, Christina Clarke Brenner, Hermann Müller, Heiko Arndt, Volker Stegmaier, Christa Justenhoven, Christina Brauch, Hiltrud Brüning, Thomas Wang-Gohrke, Shan Eilber, Ursula Dörk, Thilo Schürmann, Peter Bremer, Michael Hillemanns, Peter Bogdanova, Natalia V. Antonenkova, Natalia N. Rogov, Yuri I. Karstens, Johann H. Bermisheva, Marina Prokofieva, Darya Khusnutdinova, Elza Lindblom, Annika Margolin, Sara Mannermaa, Arto Kataja, Vesa Kosma, Veli-Matti Hartikainen, Jaana M Lambrechts, Diether Yesilyurt, Betul T. Floris, Giuseppe Leunen, Karin Manoukian, Siranoush Bonanni, Bernardo Fortuzzi, Stefano Peterlongo, Paolo Couch, Fergus J Wang, Xianshu Stevens, Kristen Lee, Adam Giles, Graham G. Baglietto, Laura Severi, Gianluca McLean, Catriona Alnæs, Grethe Grenaker Kristensen, Vessela Børrensen-Dale, Anne-Lise John, Esther M. Miron, Alexander Winqvist, Robert Pylkäs, Katri Jukkola-Vuorinen, Arja Kauppila, Saila Andrulis, Irene L. Glendon, Gord Mulligan, Anna Marie Devilee, Peter van Asperen, Christie J. Tollenaar, Rob A.E.M. Seynaeve, Caroline Figueroa, Jonine D Garcia-Closas, Montserrat Brinton, Louise Lissowska, Jolanta Hooning, Maartje J. Hollestelle, Antoinette Oldenburg, Rogier A. van den Ouweland, Ans M.W. Cox, Angela Reed, Malcolm WR Shah, Mitul Jakubowska, Ania Lubinski, Jan Jaworska, Katarzyna Durda, Katarzyna Jones, Michael Schoemaker, Minouk Ashworth, Alan Swerdlow, Anthony Beesley, Jonathan Chen, Xiaoqing Muir, Kenneth R Lophatananon, Artitaya Rattanamongkongul, Suthee Chaiwerawattana, Arkom Kang, Daehee Yoo, Keun-Young Noh, Dong-Young Shen, Chen-Yang Yu, Jyh-Cherng Wu, Pei-Ei Hsiung, Chia-Ni Perkins, Annie Swann, Ruth Velentzis, Louiza Eccles, Diana M Tapper, Will J Gerty, Susan M Graham, Nikki J Ponder, Bruce A. J. Chenevix-Trench, Georgia Pharoah, Paul D.P. Lathrop, Mark Dunning, Alison M. Rahman, Nazneen Peto, Julian Easton, Douglas F |
| author_sort | Ghoussaini, Maya |
| collection | PubMed |
| description | Breast cancer is the most common cancer among women. To date, 22 common breast cancer susceptibility loci have been identified accounting for ~ 8% of the heritability of the disease. We followed up 72 promising associations from two independent Genome Wide Association Studies (GWAS) in ~70,000 cases and ~68,000 controls from 41 case-control studies and nine breast cancer GWAS. We identified three new breast cancer risk loci on 12p11 (rs10771399; P=2.7 × 10(−35)), 12q24 (rs1292011; P=4.3×10(−19)) and 21q21 (rs2823093; P=1.1×10(−12)). SNP rs10771399 was associated with similar relative risks for both estrogen receptor (ER)-negative and ER-positive breast cancer, whereas the other two loci were associated only with ER-positive disease. Two of the loci lie in regions that contain strong plausible candidate genes: PTHLH (12p11) plays a crucial role in mammary gland development and the establishment of bone metastasis in breast cancer, while NRIP1 (21q21) encodes an ER co-factor and has a role in the regulation of breast cancer cell growth. |
| format | Online Article Text |
| id | pubmed-3653403 |
| institution | National Center for Biotechnology Information |
| language | English |
| publishDate | 2012 |
| record_format | MEDLINE/PubMed |
| spelling | pubmed-36534032013-05-14 Genome-wide association analysis identifies three new breast cancer susceptibility loci Ghoussaini, Maya Fletcher, Olivia Michailidou, Kyriaki Turnbull, Clare Schmidt, Marjanka K Dicks, Ed Dennis, Joe Wang, Qin Humphreys, Manjeet K Luccarini, Craig Baynes, Caroline Conroy, Don Maranian, Melanie Ahmed, Shahana Driver, Kristy Johnson, Nichola Orr, Nicholas Silva, Isabel dos Santos Waisfisz, Quinten Meijers-Heijboer, Hanne Uitterlinden, Andre G. Rivadeneira, Fernando Hall, Per Czene, Kamila Irwanto, Astrid Liu, Jianjun Nevanlinna, Heli Aittomäki, Kristiina Blomqvist, Carl Meindl, Alfons Schmutzler, Rita K Müller-Myhsok, Bertram Lichtner, Peter Chang-Claude, Jenny Hein, Rebecca Nickels, Stefan Flesch-Janys, Dieter Tsimiklis, Helen Makalic, Enes Schmidt, Daniel Bui, Minh Hopper, John L Apicella, Carmel Park, Daniel J Southey, Melissa Hunter, David J Chanock, Stephen J Broeks, Annegien Verhoef, Senno Hogervorst, Frans BL Fasching, Peter A. Lux, Michael P. Beckmann, Matthias W. Ekici, Arif B. Sawyer, Elinor Tomlinson, Ian Kerin, Michael Marme, Frederik Schneeweiss, Andreas Sohn, Christof Burwinkel, Barbara Guénel, Pascal Truong, Thérèse Cordina-Duverger, Emilie Menegaux, Florence Bojesen, Stig E Nordestgaard, Børge G Nielsen, Sune F Flyger, Henrik Milne, Roger L. Alonso, M. Rosario González-Neira, Anna Benítez, Javier Anton-Culver, Hoda Ziogas, Argyrios Bernstein, Leslie Dur, Christina Clarke Brenner, Hermann Müller, Heiko Arndt, Volker Stegmaier, Christa Justenhoven, Christina Brauch, Hiltrud Brüning, Thomas Wang-Gohrke, Shan Eilber, Ursula Dörk, Thilo Schürmann, Peter Bremer, Michael Hillemanns, Peter Bogdanova, Natalia V. Antonenkova, Natalia N. Rogov, Yuri I. Karstens, Johann H. Bermisheva, Marina Prokofieva, Darya Khusnutdinova, Elza Lindblom, Annika Margolin, Sara Mannermaa, Arto Kataja, Vesa Kosma, Veli-Matti Hartikainen, Jaana M Lambrechts, Diether Yesilyurt, Betul T. Floris, Giuseppe Leunen, Karin Manoukian, Siranoush Bonanni, Bernardo Fortuzzi, Stefano Peterlongo, Paolo Couch, Fergus J Wang, Xianshu Stevens, Kristen Lee, Adam Giles, Graham G. Baglietto, Laura Severi, Gianluca McLean, Catriona Alnæs, Grethe Grenaker Kristensen, Vessela Børrensen-Dale, Anne-Lise John, Esther M. Miron, Alexander Winqvist, Robert Pylkäs, Katri Jukkola-Vuorinen, Arja Kauppila, Saila Andrulis, Irene L. Glendon, Gord Mulligan, Anna Marie Devilee, Peter van Asperen, Christie J. Tollenaar, Rob A.E.M. Seynaeve, Caroline Figueroa, Jonine D Garcia-Closas, Montserrat Brinton, Louise Lissowska, Jolanta Hooning, Maartje J. Hollestelle, Antoinette Oldenburg, Rogier A. van den Ouweland, Ans M.W. Cox, Angela Reed, Malcolm WR Shah, Mitul Jakubowska, Ania Lubinski, Jan Jaworska, Katarzyna Durda, Katarzyna Jones, Michael Schoemaker, Minouk Ashworth, Alan Swerdlow, Anthony Beesley, Jonathan Chen, Xiaoqing Muir, Kenneth R Lophatananon, Artitaya Rattanamongkongul, Suthee Chaiwerawattana, Arkom Kang, Daehee Yoo, Keun-Young Noh, Dong-Young Shen, Chen-Yang Yu, Jyh-Cherng Wu, Pei-Ei Hsiung, Chia-Ni Perkins, Annie Swann, Ruth Velentzis, Louiza Eccles, Diana M Tapper, Will J Gerty, Susan M Graham, Nikki J Ponder, Bruce A. J. Chenevix-Trench, Georgia Pharoah, Paul D.P. Lathrop, Mark Dunning, Alison M. Rahman, Nazneen Peto, Julian Easton, Douglas F Nat Genet Article Breast cancer is the most common cancer among women. To date, 22 common breast cancer susceptibility loci have been identified accounting for ~ 8% of the heritability of the disease. We followed up 72 promising associations from two independent Genome Wide Association Studies (GWAS) in ~70,000 cases and ~68,000 controls from 41 case-control studies and nine breast cancer GWAS. We identified three new breast cancer risk loci on 12p11 (rs10771399; P=2.7 × 10(−35)), 12q24 (rs1292011; P=4.3×10(−19)) and 21q21 (rs2823093; P=1.1×10(−12)). SNP rs10771399 was associated with similar relative risks for both estrogen receptor (ER)-negative and ER-positive breast cancer, whereas the other two loci were associated only with ER-positive disease. Two of the loci lie in regions that contain strong plausible candidate genes: PTHLH (12p11) plays a crucial role in mammary gland development and the establishment of bone metastasis in breast cancer, while NRIP1 (21q21) encodes an ER co-factor and has a role in the regulation of breast cancer cell growth. 2012-01-22 /pmc/articles/PMC3653403/ /pubmed/22267197 http://dx.doi.org/10.1038/ng.1049 Text en Users may view, print, copy, download and text and data- mine the content in such documents, for the purposes of academic research, subject always to the full Conditions of use: http://www.nature.com/authors/editorial_policies/license.html#terms |
| spellingShingle | Article Ghoussaini, Maya Fletcher, Olivia Michailidou, Kyriaki Turnbull, Clare Schmidt, Marjanka K Dicks, Ed Dennis, Joe Wang, Qin Humphreys, Manjeet K Luccarini, Craig Baynes, Caroline Conroy, Don Maranian, Melanie Ahmed, Shahana Driver, Kristy Johnson, Nichola Orr, Nicholas Silva, Isabel dos Santos Waisfisz, Quinten Meijers-Heijboer, Hanne Uitterlinden, Andre G. Rivadeneira, Fernando Hall, Per Czene, Kamila Irwanto, Astrid Liu, Jianjun Nevanlinna, Heli Aittomäki, Kristiina Blomqvist, Carl Meindl, Alfons Schmutzler, Rita K Müller-Myhsok, Bertram Lichtner, Peter Chang-Claude, Jenny Hein, Rebecca Nickels, Stefan Flesch-Janys, Dieter Tsimiklis, Helen Makalic, Enes Schmidt, Daniel Bui, Minh Hopper, John L Apicella, Carmel Park, Daniel J Southey, Melissa Hunter, David J Chanock, Stephen J Broeks, Annegien Verhoef, Senno Hogervorst, Frans BL Fasching, Peter A. Lux, Michael P. Beckmann, Matthias W. Ekici, Arif B. Sawyer, Elinor Tomlinson, Ian Kerin, Michael Marme, Frederik Schneeweiss, Andreas Sohn, Christof Burwinkel, Barbara Guénel, Pascal Truong, Thérèse Cordina-Duverger, Emilie Menegaux, Florence Bojesen, Stig E Nordestgaard, Børge G Nielsen, Sune F Flyger, Henrik Milne, Roger L. Alonso, M. Rosario González-Neira, Anna Benítez, Javier Anton-Culver, Hoda Ziogas, Argyrios Bernstein, Leslie Dur, Christina Clarke Brenner, Hermann Müller, Heiko Arndt, Volker Stegmaier, Christa Justenhoven, Christina Brauch, Hiltrud Brüning, Thomas Wang-Gohrke, Shan Eilber, Ursula Dörk, Thilo Schürmann, Peter Bremer, Michael Hillemanns, Peter Bogdanova, Natalia V. Antonenkova, Natalia N. Rogov, Yuri I. Karstens, Johann H. Bermisheva, Marina Prokofieva, Darya Khusnutdinova, Elza Lindblom, Annika Margolin, Sara Mannermaa, Arto Kataja, Vesa Kosma, Veli-Matti Hartikainen, Jaana M Lambrechts, Diether Yesilyurt, Betul T. Floris, Giuseppe Leunen, Karin Manoukian, Siranoush Bonanni, Bernardo Fortuzzi, Stefano Peterlongo, Paolo Couch, Fergus J Wang, Xianshu Stevens, Kristen Lee, Adam Giles, Graham G. Baglietto, Laura Severi, Gianluca McLean, Catriona Alnæs, Grethe Grenaker Kristensen, Vessela Børrensen-Dale, Anne-Lise John, Esther M. Miron, Alexander Winqvist, Robert Pylkäs, Katri Jukkola-Vuorinen, Arja Kauppila, Saila Andrulis, Irene L. Glendon, Gord Mulligan, Anna Marie Devilee, Peter van Asperen, Christie J. Tollenaar, Rob A.E.M. Seynaeve, Caroline Figueroa, Jonine D Garcia-Closas, Montserrat Brinton, Louise Lissowska, Jolanta Hooning, Maartje J. Hollestelle, Antoinette Oldenburg, Rogier A. van den Ouweland, Ans M.W. Cox, Angela Reed, Malcolm WR Shah, Mitul Jakubowska, Ania Lubinski, Jan Jaworska, Katarzyna Durda, Katarzyna Jones, Michael Schoemaker, Minouk Ashworth, Alan Swerdlow, Anthony Beesley, Jonathan Chen, Xiaoqing Muir, Kenneth R Lophatananon, Artitaya Rattanamongkongul, Suthee Chaiwerawattana, Arkom Kang, Daehee Yoo, Keun-Young Noh, Dong-Young Shen, Chen-Yang Yu, Jyh-Cherng Wu, Pei-Ei Hsiung, Chia-Ni Perkins, Annie Swann, Ruth Velentzis, Louiza Eccles, Diana M Tapper, Will J Gerty, Susan M Graham, Nikki J Ponder, Bruce A. J. Chenevix-Trench, Georgia Pharoah, Paul D.P. Lathrop, Mark Dunning, Alison M. Rahman, Nazneen Peto, Julian Easton, Douglas F Genome-wide association analysis identifies three new breast cancer susceptibility loci |
| title | Genome-wide association analysis identifies three new breast cancer susceptibility loci |
| title_full | Genome-wide association analysis identifies three new breast cancer susceptibility loci |
| title_fullStr | Genome-wide association analysis identifies three new breast cancer susceptibility loci |
| title_full_unstemmed | Genome-wide association analysis identifies three new breast cancer susceptibility loci |
| title_short | Genome-wide association analysis identifies three new breast cancer susceptibility loci |
| title_sort | genome-wide association analysis identifies three new breast cancer susceptibility loci |
| topic | Article |
| url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3653403/ https://www.ncbi.nlm.nih.gov/pubmed/22267197 http://dx.doi.org/10.1038/ng.1049 |
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