Breast cancer risk variants at 6q25 display different phenotype associations and regulate ESR1, RMND1 and CCDC170
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...
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| Veröffentlicht in: | Nature Genetics 2016-04, Vol.48 (4), p.374-386 |
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| creator | Dunning, Alison M Michailidou, Kyriaki Kuchenbaecker, Karoline B Thompson, Deborah French, Juliet D Beesley, Jonathan Healey, Catherine S Kar, Siddhartha Pooley, Karen A Lopez-Knowles, Elena Dicks, Ed Barrowdale, Daniel Sinnott-Armstrong, Nicholas A Sallari, Richard C Hillman, Kristine M Kaufmann, Susanne Sivakumaran, Haran Marjaneh, Mahdi Moradi Lee, Jason S Hills, Margaret Jarosz, Monika Drury, Suzie Canisius, Sander Bolla, Manjeet K Dennis, Joe Wang, Qin Hopper, John L Southey, Melissa C Broeks, Annegien Schmidt, Marjanka K Lophatananon, Artitaya Muir, Kenneth Beckmann, Matthias W Fasching, Peter A Dos-Santos-Silva, Isabel Peto, Julian Sawyer, Elinor J Tomlinson, Ian Burwinkel, Barbara Marme, Frederik Guénel, Pascal Truong, Thérèse Bojesen, Stig E Flyger, Henrik González-Neira, Anna Perez, Jose I.A Anton-Culver, Hoda Eunjung, Lee Arndt, Volker Brenner, Hermann Meindl, Alfons Schmutzler, Rita K Brauch, Hiltrud Hamann, Ute Aittomäki, 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 Olson, Janet E Giles, Graham G Milne, Roger L Haiman, Christopher A Henderson, Brian E Goldberg, Mark S Teo, Soo H Yip, Cheng Har Nord, Silje Borresen-Dale, Anne-Lise Kristensen, Vessela Long, Jirong Zheng, Wei Pylkäs, 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 |
| description | 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. |
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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.</description><identifier>ISSN: 1061-4036</identifier><language>eng</language><publisher>Nature Publishing Group</publisher><ispartof>Nature Genetics, 2016-04, Vol.48 (4), p.374-386</ispartof><lds50>peer_reviewed</lds50><woscitedreferencessubscribed>false</woscitedreferencessubscribed></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><link.rule.ids>314,315,776,780,27837</link.rule.ids></links><search><creatorcontrib>Dunning, Alison M</creatorcontrib><creatorcontrib>Michailidou, Kyriaki</creatorcontrib><creatorcontrib>Kuchenbaecker, Karoline 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Genetics</title><description>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. 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Veli-Matti</creatorcontrib><creatorcontrib>Mannermaa, Arto</creatorcontrib><creatorcontrib>Tseng, Chiu-Chen</creatorcontrib><creatorcontrib>Wu, Anna H</creatorcontrib><creatorcontrib>Lambrechts, Diether</creatorcontrib><creatorcontrib>Wildiers, Hans</creatorcontrib><creatorcontrib>Chang-Claude, Jenny</creatorcontrib><creatorcontrib>Rudolph, Anja</creatorcontrib><creatorcontrib>Peterlongo, Paolo</creatorcontrib><creatorcontrib>Radice, Paolo</creatorcontrib><creatorcontrib>Olson, Janet E</creatorcontrib><creatorcontrib>Giles, Graham G</creatorcontrib><creatorcontrib>Milne, Roger L</creatorcontrib><creatorcontrib>Haiman, Christopher A</creatorcontrib><creatorcontrib>Henderson, Brian E</creatorcontrib><creatorcontrib>Goldberg, Mark S</creatorcontrib><creatorcontrib>Teo, Soo H</creatorcontrib><creatorcontrib>Yip, Cheng Har</creatorcontrib><creatorcontrib>Nord, Silje</creatorcontrib><creatorcontrib>Borresen-Dale, Anne-Lise</creatorcontrib><creatorcontrib>Kristensen, Vessela</creatorcontrib><creatorcontrib>Long, Jirong</creatorcontrib><creatorcontrib>Zheng, Wei</creatorcontrib><creatorcontrib>Pylkäs, Katri</creatorcontrib><creatorcontrib>Winqvist, Robert</creatorcontrib><creatorcontrib>Andrulis, Irene L</creatorcontrib><creatorcontrib>Knight, Julia A</creatorcontrib><creatorcontrib>Devilee, Peter</creatorcontrib><creatorcontrib>Seynaeve, Caroline</creatorcontrib><creatorcontrib>Figueroa, Jonine</creatorcontrib><creatorcontrib>Sherman, Mark E</creatorcontrib><creatorcontrib>Czene, Kamila</creatorcontrib><creatorcontrib>Darabi, Hatef</creatorcontrib><creatorcontrib>Hollestelle, Antoinette</creatorcontrib><creatorcontrib>van den Ouweland, Ans M.W</creatorcontrib><creatorcontrib>Humphreys, Keith</creatorcontrib><creatorcontrib>Gao, Yu-Tang</creatorcontrib><creatorcontrib>Shu, Xiao-Ou</creatorcontrib><collection>Lirias (KU Leuven Association)</collection><jtitle>Nature Genetics</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Dunning, Alison M</au><au>Michailidou, Kyriaki</au><au>Kuchenbaecker, Karoline B</au><au>Thompson, Deborah</au><au>French, Juliet D</au><au>Beesley, Jonathan</au><au>Healey, Catherine S</au><au>Kar, Siddhartha</au><au>Pooley, Karen A</au><au>Lopez-Knowles, Elena</au><au>Dicks, Ed</au><au>Barrowdale, Daniel</au><au>Sinnott-Armstrong, Nicholas A</au><au>Sallari, Richard C</au><au>Hillman, Kristine M</au><au>Kaufmann, Susanne</au><au>Sivakumaran, Haran</au><au>Marjaneh, Mahdi Moradi</au><au>Lee, Jason S</au><au>Hills, Margaret</au><au>Jarosz, Monika</au><au>Drury, Suzie</au><au>Canisius, Sander</au><au>Bolla, Manjeet K</au><au>Dennis, Joe</au><au>Wang, Qin</au><au>Hopper, John L</au><au>Southey, Melissa C</au><au>Broeks, Annegien</au><au>Schmidt, Marjanka K</au><au>Lophatananon, Artitaya</au><au>Muir, Kenneth</au><au>Beckmann, Matthias W</au><au>Fasching, Peter A</au><au>Dos-Santos-Silva, Isabel</au><au>Peto, Julian</au><au>Sawyer, Elinor J</au><au>Tomlinson, Ian</au><au>Burwinkel, Barbara</au><au>Marme, Frederik</au><au>Guénel, Pascal</au><au>Truong, Thérèse</au><au>Bojesen, Stig E</au><au>Flyger, Henrik</au><au>González-Neira, Anna</au><au>Perez, Jose I.A</au><au>Anton-Culver, Hoda</au><au>Eunjung, Lee</au><au>Arndt, Volker</au><au>Brenner, Hermann</au><au>Meindl, Alfons</au><au>Schmutzler, Rita K</au><au>Brauch, Hiltrud</au><au>Hamann, Ute</au><au>Aittomäki, Kristiina</au><au>Blomqvist, Carl</au><au>Ito, Hidemi</au><au>Matsuo, Keitaro</au><au>Bogdanova, Natasha</au><au>Dörk, Thilo</au><au>Lindblom, Annika</au><au>Margolin, Sara</au><au>Kosma, Veli-Matti</au><au>Mannermaa, Arto</au><au>Tseng, Chiu-Chen</au><au>Wu, Anna H</au><au>Lambrechts, Diether</au><au>Wildiers, Hans</au><au>Chang-Claude, Jenny</au><au>Rudolph, Anja</au><au>Peterlongo, Paolo</au><au>Radice, Paolo</au><au>Olson, Janet E</au><au>Giles, Graham G</au><au>Milne, Roger L</au><au>Haiman, Christopher A</au><au>Henderson, Brian E</au><au>Goldberg, Mark S</au><au>Teo, Soo H</au><au>Yip, Cheng Har</au><au>Nord, Silje</au><au>Borresen-Dale, Anne-Lise</au><au>Kristensen, Vessela</au><au>Long, Jirong</au><au>Zheng, Wei</au><au>Pylkäs, Katri</au><au>Winqvist, Robert</au><au>Andrulis, Irene L</au><au>Knight, Julia A</au><au>Devilee, Peter</au><au>Seynaeve, Caroline</au><au>Figueroa, Jonine</au><au>Sherman, Mark E</au><au>Czene, Kamila</au><au>Darabi, Hatef</au><au>Hollestelle, Antoinette</au><au>van den Ouweland, Ans M.W</au><au>Humphreys, Keith</au><au>Gao, Yu-Tang</au><au>Shu, Xiao-Ou</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Breast cancer risk variants at 6q25 display different phenotype associations and regulate ESR1, RMND1 and CCDC170</atitle><jtitle>Nature Genetics</jtitle><date>2016-04</date><risdate>2016</risdate><volume>48</volume><issue>4</issue><spage>374</spage><epage>386</epage><pages>374-386</pages><issn>1061-4036</issn><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.</abstract><pub>Nature Publishing Group</pub></addata></record> |
| fulltext | fulltext |
| identifier | ISSN: 1061-4036 |
| ispartof | Nature Genetics, 2016-04, Vol.48 (4), p.374-386 |
| issn | 1061-4036 |
| language | eng |
| recordid | cdi_kuleuven_dspace_123456789_537568 |
| source | Lirias (KU Leuven Association); SpringerLink Journals; Nature Journals Online |
| title | Breast cancer risk variants at 6q25 display different phenotype associations and regulate ESR1, RMND1 and CCDC170 |
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