Identification and molecular characterization of a new ovarian cancer susceptibility locus at 17q21.31

Permuth-Wey, Jennifer; Chen, Zhihua; Lawrenson, Kate; Shen, Howard C.; Velkova, Aneliya; Tyrer, Jonathan P.; Ann Chen, Y.; Lin, Hui-Yi; Tsai, Ya-Yu; Qu, Xiaotao; Ramus, Susan J.; Karevan, Rod; Chen, Y. Ann; Lee, Janet; Lee, Nathan; Larson, Melissa C.; Study, stralian Cancer; Aben, Katja Kk; Study, stralian Ovarian Cancer; Anton-Culver, Hoda; Antonenkova, Natalia; Antoniou, Antonis C.; Armasu, Sebastian M.; Bacot, François; Baglietto, Laura; Bandera, Elisa V.; Barnholtz-Sloan, Jill; Beckmann, Matthias W.; Birrer, Michael J.; Australian Cancer, Study; Bloom, Greg; Australian Ovarian Cancer, Study; Bogdanova, Natalia; Brinton, Louise A.; Brooks-Wilson, Angela; Brca1/2, Consortium of Investigators of Modifiers of; Brown, Robert; Butzow, Ralf; Cai, Qiuyin; Campbell, Ian; Chang-Claude, Jenny; Dörk, Thilo; Chanock, Stephen; Dürst, Matthias; Chenevix-Trench, Georgia; Cheng, Jin Q.; Cicek, Mine S.; Coetzee, Gerhard A.; Cook, Linda S.; Couch, Fergus J.; Cramer, Daniel W.; Cunningham, Julie M.; Dansonka-Mieszkowska, Agnieszka; Doerk, Thilo; Despierre, Evelyn; Doherty, Jennifer A.; Duerst, Matthias; Górski, Bohdan; du Bois, Andreas; Easton, Douglas F.; Eccles, Diana; Høgdall, Claus K.; Edwards, Robert; Høgdall, Estrid; Ekici, Arif B.; Consortium of Investigators of Modifiers of, Brca; Fasching, Peter A.; Fenstermacher, David A.; Flanagan, James M.; Garcia-Closas, Montserrat; Gentry-Maharaj, Aleksandra; Giles, Graham Gg; Glasspool, Rosalind M.; Gonzalez-Bosquet, Jesus; Goodman, Marc T.; Gorski, Bohdan; Gore, Martin; Krüger Kjaer, Susanne; Gronwald, Jacek; Hall, Per; Dork, T.; Halle, Mari K.; Harter, Philipp; Durst, M.; Heitz, Florian; van Altena, Anne M.; Hogdall, Claus K.; Hillemanns, Peter; Kiong Lim, Boon; Hoatlin, Maureen; Hogdall, Estrid; Hosono, Satoyo; Jakubowska, Anna; Jensen, Allan; Jim, Heather; Lissowska, Jolanta; Kalli, Kimberly R.; Lu, Karen H.; Karlan, Beth Y.; Lubiński, Jan; Kaye, Stanley B.; Lurie, Galina; Kelemen, Linda E.; Massuger, Leon F. A. G.; Kiemeney, Lambertus A.; Matsuo, Keitaro; McGuire, Valerie; Kikkawa, Fumitaka; McLaughlin, John R.; Menon, Usha; Konecny, Gottfried E.; Modugno, Francesmary; Krakstad, Camilla; Moysich, Kirsten B.; Kjaer, Susanne Krüger; Nakanishi, Toru; Narod, Steven A.; Kupryjanczyk, Jolanta; Nedergaard, Lotte; Lambrechts, Diether; Ness, Roberta B.; Lambrechts, Sandrina; Nevanlinna, Heli; Weber, Rachel Palmieri; Nickels, Stefan; Lancaster, Johnathan M.; Noushmehr, Houtan; Le, Nhu D.; Du Bois, A.; Odunsi, Kunle; Leminen, Arto; Olson, Sara H.; Woo, Yin Ling; Orlow, Irene; Levine, Douglas A.; Liang, Dong; Paul, James; Pearce, Celeste L.; Pejovic, Tanja; Lin, Jie; Lim, Boon Kiong; Pelttari, Liisa M.; Pike, Malcolm C.; Poole, Elizabeth M.; Raska, Paola; Renner, Stefan P.; Risch, Harvey A.; Rodriguez-Rodriguez, Lorna; Anne Rossing, Mary; Rudolph, Anja; Runnebaum, Ingo B.; Rzepecka, Iwona K.; Salvesen, Helga B.; Schwaab, Ira; Severi, Gianluca; Shu, Xiao-Ou; Shvetsov, Yurii B.; Rossing, Mary Anne; Sieh, Weiva; Song, Honglin; Southey, Melissa C.; Spiewankiewicz, Beata; Stram, Daniel; Sutphen, Rebecca; Teo, Soo-Hwang; Terry, Kathryn L.; Tessier, Daniel C.; Thompson, Pamela J.; Tworoger, Shelley S.; Vergote, Ignace; Vierkant, Robert A.; Vincent, Daniel; Vitonis, Allison F.; Wang-Gohrke, Shan; Palmieri Weber, Rachel; Wentzensen, Nicolas; Whittemore, Alice S.; Wik, Elisabeth; Wilkens, Lynne R.; Ling Woo, Yin; Winterhoff, Boris; Wu, Anna H.; Xiang, Yong-Bing; Yang, Hannah P.; Zheng, Wei; Ziogas, Argyrios; Zulkifli, Famida; Shridhar, Vijayalakshmi; Phelan, Catherine M.; Iversen, Edwin; Schildkraut, Joellen M.; Berchuck, Andrew; Fridley, Brooke L.; Goode, Ellen L.; Pharoah, Paul D. P.; Monteiro, Alvaro N. A.; Sellers, Thomas A.; Oehler, Martin K.; Gayther, Simon A.

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Susan Ramus
Permuth-Wey et al., 2013

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Nature Research, Nature Communications, 1(4), 2013

DOI: 10.1038/ncomms2613

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@article{Permuth-Wey2013,
  abstract = {Epithelial ovarian cancer (EOC) has a heritable component that remains to be fully characterized. Most identified common susceptibility variants lie in non-protein-coding sequences. We hypothesized that variants in the 3′ untranslated region at putative microRNA (miRNA)-binding sites represent functional targets that influence EOC susceptibility. Here, we evaluate the association between 767 miRNA-related single-nucleotide polymorphisms (miRSNPs) and EOC risk in 18,174 EOC cases and 26,134 controls from 43 studies genotyped through the Collaborative Oncological Gene-environment Study. We identify several miRSNPs associated with invasive serous EOC risk (odds ratio=1.12, P=10-8) mapping to an inversion polymorphism at 17q21.31. Additional genotyping of non-miRSNPs at 17q21.31 reveals stronger signals outside the inversion (P=10-10). Variation at 17q21.31 is associated with neurological diseases, and our collaboration is the first to report an association with EOC susceptibility. An integrated molecular analysis in this region provides evidence for ARHGAP27 and PLEKHM1 as candidate EOC susceptibility genes. © 2013 Macmillan Publishers Limited. All rights reserved.},
  author = {Permuth-Wey, Jennifer and Chen, Zhihua and Lawrenson, Kate and Shen, Howard C. and Velkova, Aneliya and Tyrer, Jonathan P. and Ann Chen, Y. and Lin, Hui-Yi and Tsai, Ya-Yu and Qu, Xiaotao and Ramus, Susan J. and Karevan, Rod and Chen, Y. Ann and Lee, Janet and Lee, Nathan and Larson, Melissa C. and Study, stralian Cancer and Aben, Katja Kk and Study, stralian Ovarian Cancer and Anton-Culver, Hoda and Antonenkova, Natalia and Antoniou, Antonis C. and Armasu, Sebastian M. and Bacot, François and Baglietto, Laura and Bandera, Elisa V. and Barnholtz-Sloan, Jill and Beckmann, Matthias W. and Birrer, Michael J. and Australian Cancer, Study and Bloom, Greg and Australian Ovarian Cancer, Study and Bogdanova, Natalia and Brinton, Louise A. and Brooks-Wilson, Angela and Brca1/2, Consortium of Investigators of Modifiers of and Brown, Robert and Butzow, Ralf and Cai, Qiuyin and Campbell, Ian and Chang-Claude, Jenny and Dörk, Thilo and Chanock, Stephen and Dürst, Matthias and Chenevix-Trench, Georgia and Cheng, Jin Q. and Cicek, Mine S. and Coetzee, Gerhard A. and Cook, Linda S. and Couch, Fergus J. and Cramer, Daniel W. and Cunningham, Julie M. and Dansonka-Mieszkowska, Agnieszka and Doerk, Thilo and Despierre, Evelyn and Doherty, Jennifer A. and Duerst, Matthias and Górski, Bohdan and du Bois, Andreas and Easton, Douglas F. and Eccles, Diana and Høgdall, Claus K. and Edwards, Robert and Høgdall, Estrid and Ekici, Arif B. and Consortium of Investigators of Modifiers of, Brca and Fasching, Peter A. and Fenstermacher, David A. and Flanagan, James M. and Garcia-Closas, Montserrat and Gentry-Maharaj, Aleksandra and Giles, Graham Gg and Glasspool, Rosalind M. and Gonzalez-Bosquet, Jesus and Goodman, Marc T. and Gorski, Bohdan and Gore, Martin and Krüger Kjaer, Susanne and Gronwald, Jacek and Hall, Per and Dork, T. and Halle, Mari K. and Harter, Philipp and Durst, M. and Heitz, Florian and van Altena, Anne M. and Hogdall, Claus K. and Hillemanns, Peter and Kiong Lim, Boon and Hoatlin, Maureen and Hogdall, Estrid and Hosono, Satoyo and Jakubowska, Anna and Jensen, Allan and Jim, Heather and Lissowska, Jolanta and Kalli, Kimberly R. and Lu, Karen H. and Karlan, Beth Y. and Lubiński, Jan and Kaye, Stanley B. and Lurie, Galina and Kelemen, Linda E. and Massuger, Leon F. A. G. and Kiemeney, Lambertus A. and Matsuo, Keitaro and McGuire, Valerie and Kikkawa, Fumitaka and McLaughlin, John R. and Menon, Usha and Konecny, Gottfried E. and Modugno, Francesmary and Krakstad, Camilla and Moysich, Kirsten B. and Kjaer, Susanne Krüger and Nakanishi, Toru and Narod, Steven A. and Kupryjanczyk, Jolanta and Nedergaard, Lotte and Lambrechts, Diether and Ness, Roberta B. and Lambrechts, Sandrina and Nevanlinna, Heli and Weber, Rachel Palmieri and Nickels, Stefan and Lancaster, Johnathan M. and Noushmehr, Houtan and Le, Nhu D. and Du Bois, A. and Odunsi, Kunle and Leminen, Arto and Olson, Sara H. and Woo, Yin Ling and Orlow, Irene and Levine, Douglas A. and Liang, Dong and Paul, James and Pearce, Celeste L. and Pejovic, Tanja and Lin, Jie and Lim, Boon Kiong and Pelttari, Liisa M. and Pike, Malcolm C. and Poole, Elizabeth M. and Raska, Paola and Renner, Stefan P. and Risch, Harvey A. and Rodriguez-Rodriguez, Lorna and Anne Rossing, Mary and Rudolph, Anja and Runnebaum, Ingo B. and Rzepecka, Iwona K. and Salvesen, Helga B. and Schwaab, Ira and Severi, Gianluca and Shu, Xiao-Ou and Shvetsov, Yurii B. and Rossing, Mary Anne and Sieh, Weiva and Song, Honglin and Southey, Melissa C. and Spiewankiewicz, Beata and Stram, Daniel and Sutphen, Rebecca and Teo, Soo-Hwang and Terry, Kathryn L. and Tessier, Daniel C. and Thompson, Pamela J. and Tworoger, Shelley S. and Vergote, Ignace and Vierkant, Robert A. and Vincent, Daniel and Vitonis, Allison F. and Wang-Gohrke, Shan and Palmieri Weber, Rachel and Wentzensen, Nicolas and Whittemore, Alice S. and Wik, Elisabeth and Wilkens, Lynne R. and Ling Woo, Yin and Winterhoff, Boris and Wu, Anna H. and Xiang, Yong-Bing and Yang, Hannah P. and Zheng, Wei and Ziogas, Argyrios and Zulkifli, Famida and Shridhar, Vijayalakshmi and Phelan, Catherine M. and Iversen, Edwin and Schildkraut, Joellen M. and Berchuck, Andrew and Fridley, Brooke L. and Goode, Ellen L. and Pharoah, Paul D. P. and Monteiro, Alvaro N. A. and Sellers, Thomas A. and Oehler, Martin K. and Gayther, Simon A.},
  doi = {10.1038/ncomms2613},
  journal = {Nature Communications},
  month = {jan},
  title = {Identification and molecular characterization of a new ovarian cancer susceptibility locus at 17q21.31},
  url = {http://www.nature.com/articles/ncomms2613.pdf},
  volume = {4},
  year = {2013}
}

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Identification and molecular characterization of a new ovarian cancer susceptibility locus at 17q21.31

Journal article published in 2013 by Jennifer Permuth-Wey, Zhihua Chen, Kate Lawrenson, Howard C. Shen, Aneliya Velkova, Jonathan P. Tyrer, Y. Ann Chen, Hui-Yi Lin, Ya-Yu Tsai, Xiaotao Qu, Susan J. Ramus

, Rod Karevan, Y. Ann Chen, Janet Lee, Nathan Lee and other authors. Jennifer Permuth-Wey, Zhihua Chen, Kate Lawrenson, Howard C. Shen, Aneliya Velkova, Jonathan P. Tyrer, Y. Ann Chen, Hui-Yi Lin, Ya-Yu Tsai, Xiaotao Qu, Susan J. Ramus

, Rod Karevan, Y. Ann Chen, Janet Lee, Nathan Lee, Melissa C. Larson, stralian Cancer Study, Katja Kk Aben, stralian Ovarian Cancer Study, Hoda Anton-Culver, Natalia Antonenkova, Antonis C. Antoniou, Sebastian M. Armasu, François Bacot, Laura Baglietto, Elisa V. Bandera, Jill Barnholtz-Sloan

, Matthias W. Beckmann, Michael J. Birrer, Study Australian Cancer, Greg Bloom, Study Australian Ovarian Cancer, Natalia Bogdanova, Louise A. Brinton, Angela Brooks-Wilson, Consortium of Investigators of Modifiers of Brca1/2, Robert Brown, Ralf Butzow, Qiuyin Cai, Ian Campbell, Jenny Chang-Claude, Thilo Dörk, Stephen Chanock, Matthias Dürst, Georgia Chenevix-Trench, Jin Q. Cheng, Mine S. Cicek, Gerhard A. Coetzee, Linda S. Cook, Fergus J. Couch, Daniel W. Cramer, Julie M. Cunningham, Agnieszka Dansonka-Mieszkowska, Thilo Doerk, Evelyn Despierre, Jennifer A. Doherty, Matthias Duerst, Bohdan Górski, Andreas du Bois, Douglas F. Easton, Diana Eccles, Claus K. Høgdall, Robert Edwards, Estrid Høgdall, Arif B. Ekici, Brca Consortium of Investigators of Modifiers of, Peter A. Fasching, David A. Fenstermacher, James M. Flanagan, Montserrat Garcia-Closas, Aleksandra Gentry-Maharaj, Graham Gg Giles, Rosalind M. Glasspool, Jesus Gonzalez-Bosquet, Marc T. Goodman, Bohdan Gorski, Martin Gore, Susanne Krüger Kjaer, Jacek Gronwald, Per Hall, T. Dork, Mari K. Halle, Philipp Harter, M. Durst, Florian Heitz, Anne M. van Altena, Claus K. Hogdall, Peter Hillemanns, Boon Kiong Lim, Maureen Hoatlin, Estrid Hogdall

, Satoyo Hosono, Anna Jakubowska, Allan Jensen, Heather Jim, Jolanta Lissowska, Kimberly R. Kalli, Karen H. Lu, Beth Y. Karlan, Jan Lubiński, Stanley B. Kaye, Galina Lurie, Linda E. Kelemen, Leon F. A. G. Massuger, Lambertus A. Kiemeney, Keitaro Matsuo

, Valerie McGuire, Fumitaka Kikkawa, John R. McLaughlin, Usha Menon, Gottfried E. Konecny, Francesmary Modugno, Camilla Krakstad, Kirsten B. Moysich, Susanne Krüger Kjaer, Toru Nakanishi, Steven A. Narod, Jolanta Kupryjanczyk, Lotte Nedergaard, Diether Lambrechts

, Roberta B. Ness, Sandrina Lambrechts, Heli Nevanlinna, Rachel Palmieri Weber, Stefan Nickels, Johnathan M. Lancaster, Houtan Noushmehr, Nhu D. Le, A. Du Bois, Kunle Odunsi, Arto Leminen, Sara H. Olson, Yin Ling Woo

, Irene Orlow, Douglas A. Levine, Dong Liang, James Paul, Celeste L. Pearce, Tanja Pejovic, Jie Lin, Boon Kiong Lim, Liisa M. Pelttari, Malcolm C. Pike, Elizabeth M. Poole, Paola Raska, Stefan P. Renner, Harvey A. Risch, Lorna Rodriguez-Rodriguez, Mary Anne Rossing, Anja Rudolph

, Ingo B. Runnebaum, Iwona K. Rzepecka, Helga B. Salvesen, Ira Schwaab, Gianluca Severi, Xiao-Ou Shu, Yurii B. Shvetsov, Mary Anne Rossing, Weiva Sieh, Honglin Song, Melissa C. Southey, Beata Spiewankiewicz, Daniel Stram, Rebecca Sutphen, Soo-Hwang Teo, Kathryn L. Terry, Daniel C. Tessier, Pamela J. Thompson, Shelley S. Tworoger

, Ignace Vergote, Robert A. Vierkant, Daniel Vincent, Allison F. Vitonis, Shan Wang-Gohrke, Rachel Palmieri Weber, Nicolas Wentzensen, Alice S. Whittemore, Elisabeth Wik, Lynne R. Wilkens, Yin Ling Woo, Boris Winterhoff, Anna H. Wu, Yong-Bing Xiang, Hannah P. Yang, Wei Zheng, Argyrios Ziogas, Famida Zulkifli, Vijayalakshmi Shridhar, Catherine M. Phelan, Edwin Iversen, Joellen M. Schildkraut, Andrew Berchuck, Brooke L. Fridley, Ellen L. Goode, Paul D. P. Pharoah, Alvaro N. A. Monteiro

, Thomas A. Sellers, Martin K. Oehler, Simon A. Gayther

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Abstract

Epithelial ovarian cancer (EOC) has a heritable component that remains to be fully characterized. Most identified common susceptibility variants lie in non-protein-coding sequences. We hypothesized that variants in the 3′ untranslated region at putative microRNA (miRNA)-binding sites represent functional targets that influence EOC susceptibility. Here, we evaluate the association between 767 miRNA-related single-nucleotide polymorphisms (miRSNPs) and EOC risk in 18,174 EOC cases and 26,134 controls from 43 studies genotyped through the Collaborative Oncological Gene-environment Study. We identify several miRSNPs associated with invasive serous EOC risk (odds ratio=1.12, P=10-8) mapping to an inversion polymorphism at 17q21.31. Additional genotyping of non-miRSNPs at 17q21.31 reveals stronger signals outside the inversion (P=10-10). Variation at 17q21.31 is associated with neurological diseases, and our collaboration is the first to report an association with EOC susceptibility. An integrated molecular analysis in this region provides evidence for ARHGAP27 and PLEKHM1 as candidate EOC susceptibility genes. © 2013 Macmillan Publishers Limited. All rights reserved.

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Identification and molecular characterization of a new ovarian cancer susceptibility locus at 17q21.31

Abstract