Abstract
| Original language | English |
|---|---|
| Pages (from-to) | 888 - 897 |
| Number of pages | 10 |
| Journal | Nature Genetics |
| Volume | 47 |
| Issue number | 8 |
| DOIs | |
| Publication status | Published - 2015 |
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Genome-wide significant risk associations for mucinous ovarian carcinoma. / Kelemen, Linda; Lawrenson, Kate; Tyrer, Jonathan; Li, Qiyuan; Lee, Janet; Seo, Ji-Heui; Phelan, Catherine M; Beesley, Jonathan; Chen, Xiaoqing; Spindler, Tassja J; Aben, Katja K; Anton-Culver, Hoda; Antonenkova, Natalia; Baker, Helen; Bandera, Elisa; Bean, Yukie Tarumi; Beckmann, Matthias; Bisogna, Maria; Bjorge, Line; Bogdanova, Natalia; Brinton, Louise; Brooks-Wilson, Angela; Bruinsma, Fiona; Butzow, Ralf; Campbell, Ian G; Carty, Karen; Chang-Claude, Jenny; Chen, Y Anne; Chen, Zhihua; Cook, Linda; Cramer, Daniel; Cunningham, Julie; Cybulski, Cezary; Dansonka-Mieszkowska, Agnieszka; Dennis, Joe; Dicks, Ed; Doherty, Jennifer; Dork, Thilo; Du Bois, Andreas; Durst, Matthias; Eccles, Diana M; Easton, Douglas F; Edwards, Robert; Eilber, Ursula; Ekici, Arif B; Engelholm, Svend Aage; Fasching, Peter; Fridley, Brooke; Gao, Yu-Tang; Gentry-Maharaj, Aleksandra; Giles, Graham G; Glasspool, Rosalind M; Goode, Ellen L; Goodman, Marc T; Grownwald, Jacek; Harrington, Patricia; Harter, Philipp; Hasmad, Hanis Nazihah; Hein, Alexander; Heitz, Florian; Hildebrandt, Michelle A T; Hillemanns, Peter; Hogdall, Estrid; Hogdall, Claus; Hosono, Satoyo; Iversen, Edwin; Jakubowska, Anna; Jensen, Allan; Ji, Bu-tian; Karlan, Beth; Kellar, Melissa; Kelley, Joseph; Kiemeney, Lambertus; Krakstad, Camilla; Kjaer, Susanne Kruger Ruger; Kupryjanczyk, Jolanta; Lambrechts, Diether; Lambrechts, Sandrina; Le, Nhu; Lee, Alice W; Lele, Shashi; Leminen, Arto; Lester, Jenny; Levine, Douglas; Liang, Dong; Lissowska, Jolanta; Lu, Karen; Lubinski, Jan; Lundvall, Lene; Massuger, Leon F A G; Matsuo, Keitaro; McGuire, Valerie; McLaughlin, John R; McNeish, Iain A; Menon, Usha N; Modugno, Francesmary; Moes-Sosnowska, Joanna; Moysich, Kirsten B; Narod, Steven A; Nedergaard, Lotte; Ness, Roberta B; Nevanlinna, Heli; Adenan, Noor A M; Odunsi, Kunle; Olson, Sara H; Orlow, Irene; Orsulic, Sandra; Weber, Rachel Palmieri; Paul, James; Pearce, Celeste L; Pejovic, Tanja; Pelttari, Liisa M; Permuth-Wey, Jenny; Pike, Malcolm C; Poole, Elizabeth M; Ramus, Susan J; Risch, Harvey A; Rosen, Barry; Rossing, Mary Anne; Rothstein, Joseph H; Rudolph, Anja; Runnebaum, Ingo B; Rzepecka, Iwona K; Salvesen, Helga Birgitte; Schildkraut, Joellen M; Schwaab, Ira; Shu, Xiao-Ou; Shvetsov, Yurii B; Siddiqui, Nadeem; Sieh, Weiva; Song, Honglin; Southey, Melissa Caroline; Sucheston, Lara E; Tangen, Ingvild L; Teo, Soo-Hwang; Terry, Kathryn L; Thompson, Pamela J; Tworoger, Shelley S; Van Altena, Anne M; Van Nieuwenhuysen, Els; Vergote, Ignace; Vierkant, Robert A; Wang-Gohrke, Shan; Walsh, Christine S; Wentzensen, Nicolas; Whittemore, Alice S; Wicklund, Kristine G; Wilkens, Lynne; Sawicki, Wlodzimierz; Woo, Yin Ling; Wu, Xifeng; Wu, Anna H; Yang, Hannah P; Zheng, Wei; Ziogas, Argyrios; Sellers, Thomas A; Freedman, Matthew L; Chenevix-Trench, Georgia; Pharoah, Paul D P; Gayther, Simon A; Berchuck, Andrew.
In: Nature Genetics, Vol. 47, No. 8, 2015, p. 888 - 897.Research output: Contribution to journal › Article › Research › peer-review
TY - JOUR
T1 - Genome-wide significant risk associations for mucinous ovarian carcinoma
AU - Kelemen, Linda
AU - Lawrenson, Kate
AU - Tyrer, Jonathan
AU - Li, Qiyuan
AU - Lee, Janet
AU - Seo, Ji-Heui
AU - Phelan, Catherine M
AU - Beesley, Jonathan
AU - Chen, Xiaoqing
AU - Spindler, Tassja J
AU - Aben, Katja K
AU - Anton-Culver, Hoda
AU - Antonenkova, Natalia
AU - Baker, Helen
AU - Bandera, Elisa
AU - Bean, Yukie Tarumi
AU - Beckmann, Matthias
AU - Bisogna, Maria
AU - Bjorge, Line
AU - Bogdanova, Natalia
AU - Brinton, Louise
AU - Brooks-Wilson, Angela
AU - Bruinsma, Fiona
AU - Butzow, Ralf
AU - Campbell, Ian G
AU - Carty, Karen
AU - Chang-Claude, Jenny
AU - Chen, Y Anne
AU - Chen, Zhihua
AU - Cook, Linda
AU - Cramer, Daniel
AU - Cunningham, Julie
AU - Cybulski, Cezary
AU - Dansonka-Mieszkowska, Agnieszka
AU - Dennis, Joe
AU - Dicks, Ed
AU - Doherty, Jennifer
AU - Dork, Thilo
AU - Du Bois, Andreas
AU - Durst, Matthias
AU - Eccles, Diana M
AU - Easton, Douglas F
AU - Edwards, Robert
AU - Eilber, Ursula
AU - Ekici, Arif B
AU - Engelholm, Svend Aage
AU - Fasching, Peter
AU - Fridley, Brooke
AU - Gao, Yu-Tang
AU - Gentry-Maharaj, Aleksandra
AU - Giles, Graham G
AU - Glasspool, Rosalind M
AU - Goode, Ellen L
AU - Goodman, Marc T
AU - Grownwald, Jacek
AU - Harrington, Patricia
AU - Harter, Philipp
AU - Hasmad, Hanis Nazihah
AU - Hein, Alexander
AU - Heitz, Florian
AU - Hildebrandt, Michelle A T
AU - Hillemanns, Peter
AU - Hogdall, Estrid
AU - Hogdall, Claus
AU - Hosono, Satoyo
AU - Iversen, Edwin
AU - Jakubowska, Anna
AU - Jensen, Allan
AU - Ji, Bu-tian
AU - Karlan, Beth
AU - Kellar, Melissa
AU - Kelley, Joseph
AU - Kiemeney, Lambertus
AU - Krakstad, Camilla
AU - Kjaer, Susanne Kruger Ruger
AU - Kupryjanczyk, Jolanta
AU - Lambrechts, Diether
AU - Lambrechts, Sandrina
AU - Le, Nhu
AU - Lee, Alice W
AU - Lele, Shashi
AU - Leminen, Arto
AU - Lester, Jenny
AU - Levine, Douglas
AU - Liang, Dong
AU - Lissowska, Jolanta
AU - Lu, Karen
AU - Lubinski, Jan
AU - Lundvall, Lene
AU - Massuger, Leon F A G
AU - Matsuo, Keitaro
AU - McGuire, Valerie
AU - McLaughlin, John R
AU - McNeish, Iain A
AU - Menon, Usha N
AU - Modugno, Francesmary
AU - Moes-Sosnowska, Joanna
AU - Moysich, Kirsten B
AU - Narod, Steven A
AU - Nedergaard, Lotte
AU - Ness, Roberta B
AU - Nevanlinna, Heli
AU - Adenan, Noor A M
AU - Odunsi, Kunle
AU - Olson, Sara H
AU - Orlow, Irene
AU - Orsulic, Sandra
AU - Weber, Rachel Palmieri
AU - Paul, James
AU - Pearce, Celeste L
AU - Pejovic, Tanja
AU - Pelttari, Liisa M
AU - Permuth-Wey, Jenny
AU - Pike, Malcolm C
AU - Poole, Elizabeth M
AU - Ramus, Susan J
AU - Risch, Harvey A
AU - Rosen, Barry
AU - Rossing, Mary Anne
AU - Rothstein, Joseph H
AU - Rudolph, Anja
AU - Runnebaum, Ingo B
AU - Rzepecka, Iwona K
AU - Salvesen, Helga Birgitte
AU - Schildkraut, Joellen M
AU - Schwaab, Ira
AU - Shu, Xiao-Ou
AU - Shvetsov, Yurii B
AU - Siddiqui, Nadeem
AU - Sieh, Weiva
AU - Song, Honglin
AU - Southey, Melissa Caroline
AU - Sucheston, Lara E
AU - Tangen, Ingvild L
AU - Teo, Soo-Hwang
AU - Terry, Kathryn L
AU - Thompson, Pamela J
AU - Tworoger, Shelley S
AU - Van Altena, Anne M
AU - Van Nieuwenhuysen, Els
AU - Vergote, Ignace
AU - Vierkant, Robert A
AU - Wang-Gohrke, Shan
AU - Walsh, Christine S
AU - Wentzensen, Nicolas
AU - Whittemore, Alice S
AU - Wicklund, Kristine G
AU - Wilkens, Lynne
AU - Sawicki, Wlodzimierz
AU - Woo, Yin Ling
AU - Wu, Xifeng
AU - Wu, Anna H
AU - Yang, Hannah P
AU - Zheng, Wei
AU - Ziogas, Argyrios
AU - Sellers, Thomas A
AU - Freedman, Matthew L
AU - Chenevix-Trench, Georgia
AU - Pharoah, Paul D P
AU - Gayther, Simon A
AU - Berchuck, Andrew
PY - 2015
Y1 - 2015
N2 - Genome-wide association studies have identified several risk associations for ovarian carcinomas but not for mucinous ovarian carcinomas (MOCs). Our analysis of 1,644 MOC cases and 21,693 controls with imputation identified 3 new risk associations: rs752590 at 2q13 (P = 3.3 ? 10-8), rs711830 at 2q31.1 (P = 7.5 ? 10-12) and rs688187 at 19q13.2 (P = 6.8 ? 10-13). We identified significant expression quantitative trait locus (eQTL) associations for HOXD9 at 2q31.1 in ovarian (P = 4.95 ? 10-4, false discovery rate (FDR) = 0.003) and colorectal (P = 0.01, FDR = 0.09) tumors and for PAX8 at 2q13 in colorectal tumors (P = 0.03, FDR = 0.09). Chromosome conformation capture analysis identified interactions between the HOXD9 promoter and risk-associated SNPs at 2q31.1. Overexpressing HOXD9 in MOC cells augmented the neoplastic phenotype. These findings provide the first evidence for MOC susceptibility variants and insights into the underlying biology of the disease.
AB - Genome-wide association studies have identified several risk associations for ovarian carcinomas but not for mucinous ovarian carcinomas (MOCs). Our analysis of 1,644 MOC cases and 21,693 controls with imputation identified 3 new risk associations: rs752590 at 2q13 (P = 3.3 ? 10-8), rs711830 at 2q31.1 (P = 7.5 ? 10-12) and rs688187 at 19q13.2 (P = 6.8 ? 10-13). We identified significant expression quantitative trait locus (eQTL) associations for HOXD9 at 2q31.1 in ovarian (P = 4.95 ? 10-4, false discovery rate (FDR) = 0.003) and colorectal (P = 0.01, FDR = 0.09) tumors and for PAX8 at 2q13 in colorectal tumors (P = 0.03, FDR = 0.09). Chromosome conformation capture analysis identified interactions between the HOXD9 promoter and risk-associated SNPs at 2q31.1. Overexpressing HOXD9 in MOC cells augmented the neoplastic phenotype. These findings provide the first evidence for MOC susceptibility variants and insights into the underlying biology of the disease.
UR - http://www.nature.com.ezproxy.lib.monash.edu.au/ng/journal/v47/n8/extref/ng.3336-S1.pdf
U2 - 10.1038/ng.3336
DO - 10.1038/ng.3336
M3 - Article
VL - 47
SP - 888
EP - 897
JO - Nature Genetics
JF - Nature Genetics
SN - 1061-4036
IS - 8
ER -