Citations 9
Cross-Cancer Genome-Wide Association Study of Endometrial Cancer and Epithelial Ovarian Cancer Identifies Genetic Risk Regions Associated with Risk of Both Cancers
Glubb, Dylan M. , Thompson, Deborah J. , Aben, Katja K.H. , Alsulimani, Ahmad , Amant, Frédéric , Annibali, Daniela , Barricarte, Aurelio , Beckmann, Matthias W. , Bermisheva, Marina , Bernardini, Marcus Q. , Bischof, Katharina , Bodelón, Clara , Brand, Alison H. , Brinton, Louise A. , Bruinsma, Fiona , Burghaus, Stefanie , Cai, Hui , Carney, Michael E. , Chen, Chu , Chen, Xiao Qing, Chen, Zhihua , Cunningham, Julie M. , Vivo, Immaculata De , Dörk, Thilo , Edwards, Todd, Ekici, Arif B. , Ewing, Ailith , Fasching, Peter A. , Ferguson, Sarah, Flanagan, James M. , Fostira, Florentia, Gao, Bo , Gaudet, Mia M. , Gawełko, Jan , Goodman, Marc T. , Harter, Philipp , Hein, Alexander , Hildebrandt, Michelle A.T., Hillemanns, Peter , Høgdall, Claus , Holliday, Elizabeth , Huntsman, David G. , Huzarski, Tomasz , Jones, Michael E. , Kelley, Joseph L., Killeen, Jeffrey , Klapdor, Rüdiger , Köbel, Martin , Konopka, Bożena , Konstantopoulou, Irene , Kopperud, Reidun Kristin, Koti, Madhuri , Lambrechts, Diether , Lele, Shashikant , Lester, Jenny, Li, Andrew J., Liang, Dong , Liebrich, Clemens, Lipworth, Loren , Lissowska, Jolanta , Lu, Karen H., May, Taymaa, McGuire, Valerie , McNeish, Iain A. , Menon, Usha , Moysich, Kirsten B. , Odunsi, Kunle , Olsson, Håkan , Oršulić, Sandra , Osório, Ana , Park‐Simon, Tjoung‐Won , Pearce, Celeste Leigh, Podgórska, Agnieszka , Ramus, Susan J. , Riggan, Marjorie J. , Rothstein, Joseph H. , Runnebaum, Ingo B. , Scott, Rodney J. , Sellers, Thomas A. , Sieh, Weiva , Śpiewankiewicz, Beata, Sutphen, Rebecca , Teo, Soo‐Hwang , Thompson, Pamela J., Titus, Linda , Tone, Alicia , Edwards, Digna Velez, Vergote, Ignace , Wang, Zhaoming , Wang‐Gohrke, Shan , Group, for the OPAL Study, Group, for the AOCS, Whittemore, Alice S. , Wu, Xifeng , Wu, Anna H. , O’Mara, Tracy A. , Lu, Karen H. , Lambrechts, Diether , Barricarte, Aurelio , Bischof, Katharina , Bodelon, Clara , Brenton, James D , Brinton, Louise A , Buchanan, Daniel D , Cunningham, Julie M , De Vivo, Immaculata , Fazio, Anna de , Doherty, Jennifer A , Dörk, Thilo , Dunning, Alison M , Edwards, Todd , Ewing, Ailith , Fasching, Peter A , Flanagan, James M , Friedenreich, Christine M , Gaudet, Mia M , Gawełko, Jan , Gentry‐Maharaj, Aleksandra , Giles, Graham G , Glasspool, Rosalind , Harris, Holly R , Hein, Alexander , Heitz, Florian , Hillemanns, Peter , Jakubowska, Anna , Jones, Michael E , Karlan, Beth Y , Karnezis, Anthony , Kjaer, Susanne K , Klapdor, Rüdiger , Köbel, Martin , Konstantopoulou, Irene , Kupryjanczyk, Jolanta , Lambrechts, Diether , Lissowska, Jolanta , Lu, Lingeng , McAlpine, Jessica N , McNeish, Iain A , Menon, Usha , Nevanlinna, H , Orsulic, Sandra , Palli, Domenico , Park-Simon, Tjoung-Won , Permuth, Jennifer B , Ramus, Susan J , Runnebaum, Ingo B , Sieh, Weiva , Swerdlow, Anthony J , Szafron, Lukasz M , Teo, Soo H , Thompson, Pamela J , Thomsen, Liv Cecilie Vestrheim , Titus, Linda , Tumino, Rosario , Vanderstichele, Adriaan , Vergote, Ignace , Vierkant, Robert A , Webb, Penelope M , Winham, Stacey J , Spurdle, Amanda B , Lambrechts, Diether , Moysich, Kirsten , Wang, Zhaoming , O'Mara, Tracy A , Ekici, Arif B , Amant, Frederic , Høgdall, Claus K , Huzarski, Tomasz , Brand, Alison H , Goodman, Marc T , Attia, John , Berchuck, Andrew , Bjørge, Line , Brenton, James D. , Buchanan, Daniel D. , Bützow, Ralf C. , Chanock, Stephen Jacob , Chen, Xiao Qing, Cook, Linda S. , DeFazio, Anna , Doherty, Jennifer A. , Bois, Andreas du , Dunning, Alison M. , Dürst, Matthias , Fountzilas, George , Giles, Graham G. , Glasspool, Rosalind , Gronwald, Jacek , Harris, Holly R. , Heitz, Florian , Hildebrandt, Michelle A.T. , Høgdall, Estrid , Jakubowska, Anna , Jensen, Allan , Karlan, Beth Y. , Karnezis, Anthony N. , Хуснутдинова, Э. К. , Kjær, Susanne K. , Kraft, Peter , Kupryjańczyk, Jolanta , Larson, Melissa C. , Marchand, Loı̈c Le , Macciotta, Alessandra , Mattiello, Amalia , McAlpine, Jessica N. , Modugno, Francesmary , Nevanlinna, Heli , Palli, Domenico , Pejovic, Tanja B. , Permuth, Jennifer B. , Rebbeck, Timothy R. , Risch, Harvey A. , Senz, Janine , Setiawan, Veronica Wendy , Siddiqui, Nadeem , Swerdlow, Anthony J. , Szafron, Lukasz M. , Thomsen, Liv Cecilie Vestrheim , Tumino, Rosario , Turman, Constance , Vanderstichele, Adriaan , Edwards, Digna R. Velez , Vierkant, Robert A. , Webb, Penelope M. , Group, for the OPAL Study, Group, for the AOCS, White, Emily , Winham, Stacey J. , Yannoukakos, Drakoulis , Spurdle, Amanda B.
Cancer Epidemiology, Biomarkers & Prevention | November 3, 2020 | Volume: 30 | Issue: 1 | Pages: 217-228
Abstract Background: Accumulating evidence suggests a relationship between endometrial cancer and ovarian cancer. Independent genome-wide association studies (GWAS) for endometrial cancer and ovarian cancer have identified 16 and 27 risk regions, respectively, four of which overlap between the two cancers. We aimed to identify joint endometrial and ovarian cancer risk loci by performing a meta-analysis of GWAS summary statistics from these two cancers. Methods: Using LDScore regression, we explored the genetic correlation between endometrial cancer and ovarian cancer. To identify loci associated with the risk of both cancers, we implemented a pipeline of statistical genetic analyses (i.e., inverse-variance meta-analysis, colocalization, and M-values) and performed analyses stratified by subtype. Candidate target genes were then prioritized using functional genomic data. Results: Genetic correlation analysis revealed significant genetic correlation between the two cancers (rG = 0.43, P = 2.66 × 10−5). We found seven loci associated with risk for both cancers (PBonferroni < 2.4 × 10−9). In addition, four novel subgenome-wide regions at 7p22.2, 7q22.1, 9p12, and 11q13.3 were identified (P < 5 × 10−7). Promoter-associated HiChIP chromatin loops from immortalized endometrium and ovarian cell lines and expression quantitative trait loci data highlighted candidate target genes for further investigation. Conclusions: Using cross-cancer GWAS meta-analysis, we have identified several joint endometrial and ovarian cancer risk loci and candidate target genes for future functional analysis. Impact: Our research highlights the shared genetic relationship between endometrial cancer and ovarian cancer. Further studies in larger sample sets are required to confirm our findings.
rs495139 in the TYMS-ENOSF1 Region and Risk of Ovarian Carcinoma of Mucinous Histology
Kelemen, Linda E. , Earp, Madalene A. , Chenevix‐Trench, Georgia , Group, On behalf of Australian Ovarian Cancer Study, Fasching, Peter A. , Beckmann, Matthias W. , Ekici, Arif B. , Hein, Alexander , Lambrechts, Diether , Lambrechts, Sandrina, Nieuwenhuysen, Els Van , Vergote, Ignace , Rossing, Mary Anne, Chang‐Claude, Jenny , Moysich, Kirsten, Cannioto, Rikki , Lele, Shashikant , Odunsi, Kunle , Goodman, Marc T. , Shvetsov, Yurii B. , Thompson, Pamela J., Dörk, Thilo , Antonenkova, Natalia, Bogdanova, Natalia , Hillemanns, Peter , Runnebaum, Ingo B. , Harter, Philipp , Heitz, Florian , Schwaab, Ira, Edwards, Robert P., Kelley, Joseph L., Ness, Roberta B., Lester, Jenny, Oršulić, Sandra , Walsh, Christine M. , Jensen, Allan , Cunningham, Julie M. , Vierkant, Robert A. , Bruinsma, Fiona , Hildebrandt, Michelle, Liang, Dong , Lu, Karen H., Wu, Xifeng , Sellers, Thomas A. , Schildkraut, Joellen M. , Iversen, Edwin S., Terry, Kathryn L. , Tworoger, Shelley S. , Thomsen, Liv Vestrheim, Krakstad, Camilla , Tangen, Ingvild L. , Aben, Katja K.H. , Massuger, Leon F.A.G. , Altena, Anne M. van , Bean, Yukie T., Kellar, Melissa, Le, Nhu D. , Brooks‐Wilson, Angela , Jakubowska, Anna , Lubiński, Jan , Wentzensen, Nicolas , Brinton, Louise A. , Lissowska, Jolanta , Høgdall, Estrid , Engelholm, Svend Aage, Høgdall, Claus , Lundvall, Lene, Nedergaard, Lotte , Dicks, Ed , Song, Honglin , McNeish, Iain A. , Carty, Karen , Eccles, Diana , Whittemore, Alice S. , McGuire, Valerie , Rothstein, Joseph H. , Sieh, Weiva , Narod, Steven A., Phelan, Catherine, McLaughlin, John, Ziogas, Argyrios, Menon, Usha , Gayther, Simon A. , Ramus, Susan J. , Wu, Anna H. , Pearce, Celeste Leigh, Lee, Alice W. , Pike, Malcolm C. , Kupryjańczyk, Jolanta , Podgórska, Agnieszka , Plisiecka-Hałasa, Joanna, Sawicki, Włodzimierz , Goode, Ellen L. , Berchuck, Andrew, Lu, Karen H. , Lambrechts, Diether , Earp, Madalene, Hein, Alexander , Behrens, Sabine , Hillemanns, Peter , Nevanlinna, H , Kjaer, Susanne K , Jensen, Allan , Cunningham, Julie M , Vierkant, Robert A , Bjorge, Line , Gronwald, Jacek , Brinton, Louise A , Pharoah, Paul D P , Tyrer, Jonathan P. , McNeish, Iain A , Eccles, Diana , Menon, Usha , Ramus, Susan J , Dörk, Thilo , Lambrechts, Diether , Tworoger, Shelley S , Moysich, Kirsten , Lissowska, Jolanta , Brooks-Wilson, Angela R , Heitz, Florian , Jakubowska, Anna , Kupryjanczyk, Jolanta , Lambrechts, Diether , Sieh, Weiva , Ekici, Arif B , Bogdanova, Natalia V , Chenevix-Trench, Georgia , Høgdall, Estrid , Høgdall, Claus K , Lubinski, Jan , Goodman, Marc T , Fridley, Brooke L. , Group, On behalf of Australian Ovarian Cancer Study, Doherty, Jennifer A. , Behrens, Sabine , Moysich, Kirsten B. , Wilkens, Lynne R. , Bois, Andreas du , Bützow, Ralf C. , Pelttari, Liisa M. , Nevanlinna, Heli , Modugno, Francesmary , Karlan, Beth Y. , Walsh, Christine, Kjær, Susanne K. , Giles, Graham G. , Southey, Melissa C. , Levine, Douglas A. , Cramer, Daniel W. , Poole, Elizabeth M. , Bandera, Elisa V. , Olson, Sara H. , Orlow, Irene , Thomsen, Liv Cecilie Vestrheim , Bjørge, Line , Kiemeney, Lambertus A. , Pejovic, Tanja B. , Cook, Linda S. , Gronwald, Jacek , Cybulski, Cezary , Pharoah, Paul D.P. , Siddiqui, Nadeem , Glasspool, Rosalind , Paul, James , Campbell, Ian , McLaughlin, John, Risch, Harvey A. , Anton‐Culver, Hoda , Gentry‐Maharaj, Aleksandra
International Journal of Molecular Sciences | August 21, 2018 | Volume: 19 | Issue: 9 | Pages: 2473
Thymidylate synthase (TYMS) is a crucial enzyme for DNA synthesis. TYMS expression is regulated by its antisense mRNA, ENOSF1. Disrupted regulation may promote uncontrolled DNA synthesis and tumor growth. We sought to replicate our previously reported association between rs495139 in the TYMS-ENOSF1 3′ gene region and increased risk of mucinous ovarian carcinoma (MOC) in an independent sample. Genotypes from 24,351 controls to 15,000 women with invasive OC, including 665 MOC, were available. We estimated per-allele odds ratios (OR) and 95% confidence intervals (CI) using unconditional logistic regression, and meta-analysis when combining these data with our previous report. The association between rs495139 and MOC was not significant in the independent sample (OR = 1.09; 95% CI = 0.97–1.22; p = 0.15; N = 665 cases). Meta-analysis suggested a weak association (OR = 1.13; 95% CI = 1.03–1.24; p = 0.01; N = 1019 cases). No significant association with risk of other OC histologic types was observed (p = 0.05 for tumor heterogeneity). In expression quantitative trait locus (eQTL) analysis, the rs495139 allele was positively associated with ENOSF1 mRNA expression in normal tissues of the gastrointestinal system, particularly esophageal mucosa (r = 0.51, p = 1.7 × 10−28), and nonsignificantly in five MOC tumors. The association results, along with inconclusive tumor eQTL findings, suggest that a true effect of rs495139 might be small.
Dose-Response Association of CD8 + Tumor-Infiltrating Lymphocytes and Survival Time in High-Grade Serous Ovarian Cancer
Goode, Ellen L. , Block, Matthew S. , Kalli, Kimberly R., Vierkant, Robert A. , Fogarty, Zachary C. , Tołoczko, Aleksandra, Hein, Alexander , Bouligny, Aliecia L., Jensen, Allan , Osório, Ana , Ryan, Andy , Magliocco, Anthony M., Hartmann, Arndt , Gao, Bo , McCauley, Bryan M. , Kennedy, Catherine J. , Karpinskyj, Chloe , Sousa, Christiani Bisinoto de, Tiezzi, Daniel Guimarães , Wachter, David L., Herpel, Esther , Taran, Florin‐Andrei , Nelson, Gregg , Menkiszak, Janusz , Alsop, Jennifer , Lester, Jenny , García-Donás, Jesús , Nation, Jill, Hung, Jillian A., Palacios, José , Rothstein, Joseph H. , Kelley, Joseph L., Andrade, Jurandyr Moreira de , Robles-Díaz, Luis, Intermaggio, Maria P., Widschwendter, Martin , Beckmann, Matthias W. , Ruebner, Matthias , Jimenez‐Liñan, Mercedes , Singh, Naveena , Oszurek, Oleg, Harnett, Paul R. , Rambau, Peter , Sinn, Hans‐Peter , Wagner, Philipp , Sharma, Raghwa , Ness, Roberta B., Oršulić, Sandra , Johnatty, Sharon E., Longacre, Teri A. , Eilber, Ursula, McGuire, Valerie , Sieh, Weiva , Natanzon, Yanina , Li, Zheng , Whittemore, Alice S. , DeFazio, Anna , Staebler, Annette , Bowtell, David D.L. , Høgdall, Estrid , Reis, Francisco José Cândido dos , Steed, Helen , Campbell, Ian , Benı́tez, Javier , Koziak, Jennifer M. , Chang‐Claude, Jenny, Moysich, Kirsten B. , Kelemen, Linda E. , Goodman, Marc T. , García, María J. , Fasching, Peter A. , Kommoss, Stefan , Deen, Suha , Menon, Usha , Chenevix‐Trench, Georgia , Huntsman, David G. , Köbel, Martin , Ramus, Susan J. , Winham, Stacey J. , Fazio, Anna de , Ramus, Susan J , Köbel, Martin , Hein, Alexander , Jensen, Allan , Vierkant, Robert A , Menon, Usha , Moysich, Kirsten , Campbell, Ian G , García-Donas, Jesús , Kennedy, Catherine J , Menkiszak, Janusz , Sinn, Peter , Widschwendter, Martin , Fogarty, Zachary C , Sieh, Weiva , Benitez, Javier , Chenevix-Trench, Georgia , Høgdall, Estrid , Bowtell, David D , Chen, Wenqian , Gentry‐Maharaj, Aleksandra , Bouligny, Aliecia, Hartkopf, Andreas D , Chudecka-Glaz, Anita Monika , Jung, Audrey , Hernandez, Brenda Y. , Fridley, Brooke L. , Wang, Chen , Modugno, Francesmary , Lubiński, Jan , Robles-Díaz, Luis, Ghatage, Prafull , Edwards, Todd , Brucker, Sara Yvonne , Karlan, Beth Y. , Gilks, C. Blake , Gronwald, Jacek , Cook, Linda S. , Kjær, Susanne K. , Brenton, James D. , Pharoah, Paul D.P. , Nelson, Gregg S , Harnett, Paul R , Steed, Helen , Goodman, Marc T
JAMA Oncology | October 19, 2017 | Volume: 3 | Issue: 12 | Pages: e173290
PALB2, CHEK2 and ATM rare variants and cancer risk: data from COGS
Southey, Melissa C. , Goldgar, David E, Winqvist, Robert , Pylkäs, Katri , Michailidou, Kyriaki , Rensburg, Elizabeth J. van , Heikkinen, Tuomas , Hopper, John L. , Dörk, Thilo , Claes, Kathleen , Teo, Zhi L. , Radice, Paolo , Catucci, Irene, Peterlongo, Paolo , Odefrey, Fabrice, Dowty, James G., Schmidt, Marjanka K. , Hogervorst, Frans B.L., Verhoef, Senno, Carpenter, Jane, Clarke, Christine L. , Scott, Rodney J. , Fasching, Peter A. , Haeberle, Lothar, Ekici, Arif B. , Beckmann, Matthias W. , Peto, Julian , Fletcher, Olivia , Johnson, Nichola , Bolla, Manjeet K. , Sawyer, Elinor J. , Tomlinson, Ian , Kerin, Michael J. , Miller, Nicola, Marmé, F., Burwinkel, Barbara , Guénel, Pascal , Truong, Thérèse , Sanchez, Marie, Bojesen, Stig E. , Nielsen, Sune F. , Flyger, Henrik, Benı́tez, Javier , Zamora, M. Pilar , Menéndez, Primitiva, Brenner, Hermann , Stegmaier, Christa, Brauch, Hiltrud , Brüning, Thomas , Ko, Yon‐Dschun, Muranen, Taru , Aittomäki, Kristiina, Blomqvist, Carl , Bogdanova, Natalia , Antonenkova, Natalia, Lindblom, Annika , Margolin, Sara , Mannermaa, Arto, Kataja, Vesa , Kosma, Veli‐Matti , Hartikainen, Jaana M. , Investigators, kConFab, Group, Australian Ovarian Cancer Study, Wauters, Els , Smeets, Dominiek, Beuselinck, Benoit , Floris, Giuseppe , Chang‐Claude, Jenny , Flesch‐Janys, Dieter, Vachon, Celine M. , McLean, Catriona , Haiman, Christopher A., Henderson, Brian E., Schumacher, Fredrick R. , Kristensen, Vessela, Alnæs, Grethe Grenaker, Zheng, Wei , Hunter, David J. , Lindström, Sara, Hankinson, Susan E. , Kraft, Peter , Andrulis, Irene L. , Knight, Julia A. , Glendon, Gord, Mulligan, Anna Marie , Jukkola‐Vuorinen, Arja , Grip, Mervi, Kauppila, Saila , Devilee, Peter , Tollenaar, Robert A.E.M., Seynaeve, Caroline, García‐Closas, Montserrat , Figueroa, Jonine D. , Lissowska, Jolanta , Darabi, Hatef, Eriksson, Mikael , Eccles, Diana M, Tapper, William , Gerty, Sue, Hooning, Maartje J. , Collée, J. Margriet, Tilanus‐Linthorst, Madeleine M.A., Li, Jingmei , Brand, Judith S. , Humphreys, Keith , Reed, Malcolm , Luccarini, Craig , Baynes, Caroline, Dunning, Alison M. , Hamann, Ute, Torres, Diana , Ulmer, Hans Ulrich, Rüdiger, Thomas , Jakubowska, Anna , Lubiński, Jan , Jaworska, Katarzyna, Durda, Katarzyna, Slager, Susan, Yannoukakos, Drakoulis , Swerdlow, Anthony J. , Ashworth, Alan , Orr, Nick , Jones, Michael E. , González‐Neira, Anna , Pita, Guillermo , Alonso, M. Rosario, Álvarez, Núria, Herrero, Daniel, Tessier, Daniel C., Vincent, Daniel , Bacot, François, Simard, Jacques , Dumont, Martine , Soucy, Penny, Eeles, Rosalind A. , Muir, Kenneth , Grönberg, Henrik , Schleutker, Johanna , Nordestgaard, Børge G. , Weischer, Maren , Travis, Ruth C. , Neal, David E. , Donovan, Jenny , Hamdy, Freddie C. , Stanford, Janet L. , Blot, William J. , Thibodeau, Stephen N. , Schaid, Daniel J. , Kelley, Joseph L., Maier, Christiane, Kibel, Adam S. , Butterbach, Katja, Kaneva, Radka , Batra, Jyotsna , Teixeira, Manuel R. , Olama, Ali Amin Al , Benlloch, Sara, Hartmann, Arndt , Hein, Alexander , Ruebner, Matthias , Lambrechts, Diether , Nieuwenhuysen, Els Van , Vergote, Ignace , Lambretchs, Sandrina, Rossing, Mary Anne, Nickels, Stefan , Eilber, Ursula, Wang‐Gohrke, Shan , Odunsi, Kunle , Sucheston‐Campbell, Lara, Friel, Grace , Lurie, Galina, Killeen, Jeffrey , Goodman, Marc T. , Runnebaum, Ingo B., Hillemanns, Peter , Pelttari, Liisa M. , Edwards, Robert P., Ness, Roberta B., Moysich, Kirsten B., Heitz, Florian , Harter, Philipp , Kommoss, Stefan , Walsh, Christine , Lester, Jenny, Jensen, Allan , Høgdall, Estrid , Peissel, Bernard , Bernard, Loris, Goode, Ellen L. , Vierkant, Robert A. , Cunningham, Julie M. , Fogarty, Zachary C. , Kalli, Kimberly R., Liang, Dong , Lu, Karen H., Hildebrandt, Michelle A.T., Wu, Xifeng , Levine, Douglas A. , Bisogna, Maria, Iversen, Edwin S., Marks, Jeffrey R. , Akushevich, Lucy , Schildkraut, Joellen M. , Terry, Kathryn L. , Stampfer, Meir J. , Tworoger, Shelley S. , Olson, Sara H. , Salvesen, Helga B., Altena, Anne M. van , Aben, Katja K.H. , Kiemeney, Lambertus A. , Massuger, Leon F.A.G. , Bean, Yukie T., Kelemen, Linda E., Le, Nhu D. , Górski, Bohdan , Menkiszak, Janusz , Høgdall, Claus , Lundvall, Lene, Nedergaard, Lotte , Engelholm, Svend Aage, Dicks, Ed , Campbell, Ian , McNeish, Iain A. , Whittemore, Alice S. , Rothstein, Joseph H. , McGuire, Valerie, Sieh, Weiva , Cai, Hui , Teten, Rachel Threet, Sutphen, Rebecca , McLaughlin, John R, Narod, Steven A., Phelan, Catherine M., Monteiro, Álvaro N.A. , Fenstermacher, David, Lin, Hui‐Yi , Sellers, Thomas A. , Chen, Y. Ann , Chen, Zhihua , Gayther, Simon A. , Ramus, Susan J. , Menon, Usha , Wu, Anna H. , Pearce, Celeste Leigh, Pike, Malcolm C., Dansonka‐Mieszkowska, Agnieszka , Plisiecka-Hałasa, Joanna, Moes-Sosnowska, Joanna , Kupryjańczyk, Jolanta , Song, Honglin , Winship, Ingrid , Chenevix‐Trench, Georgia , Tavtigian, Sean V. , Easton, Doug , Lu, Karen H. , Durocher, Francine , Eccles, Diana , Lambrechts, Diether , Vachon, Celine, Pankratz, Vernon S, Thibodeau, Stephen, Goldgar, David E, Couch, Fergus J. , Tischkowitz, Marc D. , Foulkes, William D. , Dennis, Joe , Nevanlinna, Heli , Reis‐Filho, Jorge S. , Tsimiklis, Helen , Broeks, Annegien , dos‐Santos‐Silva, Isabel , Yang, Rongxi , Ménégaux, F. , Sanchez, Marie, Pérez, José Ignacio Arias , Anton‐Culver, Hoda , Neuhausen, Susan L. , Ziogas, Argyrios , Clarke, Christina A. , Arndt, Volker , Mannermaa, Arto, Spurdle, Amanda B. , Group, Australian Ovarian Cancer Study, Rudolph, Anja , Seibold, Petra , Olson, Janet E. , Vachon, Celine M. , Pankratz, V. Shane , Marchand, Loı̈c Le , Kristensen, Vessela N. , Hankinson, Susan E. , Hollestelle, Antoinette , Chanock, Stephen Jacob , Czene, Kamila , Eriksson, Mikael , Eccles, Diana M, Rafiq, Sajjad , Hooning, Maartje J. , Martens, John W.M. , Hall, Per N , Cox, Angela , Toland, Amanda Ewart , Ambrosone, Christine B. , Wiklund, Fredrik E. , Khaw, Kay‐Tee , Cybulski, Cezary , Cannon‐Albright, Lisa , Park, Jong, Kote‐Jarai, Zsofia , Renner, Stefan P. , Doherty, Jennifer A. , Wilkens, Lynne R. , Bützow, Ralf C. , Modugno, Francesmary , Moysich, Kirsten B., Bois, Andreas du , Karlan, Beth Y. , Kjær, Susanne K. , Bonanni, Bernardo , Fridley, Brooke L. , Larson, Melissa C. , Hildebrandt, Michelle A.T. , Dao, Fanny , Berchuck, Andrew , Cramer, Daniel W. , Poole, Elizabeth M. , Bandera, Elisa V. , Orlow, Irene , Bjørge, Line , Pejovic, Tanja B. , Brooks‐Wilson, Angela , Cook, Linda S. , Gronwald, Jacek , Tyrer, Jonathan P. , Paul, James , Siddiqui, Nadeem , Glasspool, Rosalind , Shu, Xiao‐Ou , McLaughlin, John R, Permuth, Jennifer B. , Gentry‐Maharaj, Aleksandra , Berg, David Van Den , Pharoah, Paul D.P. , Giles, Graham G. , Milne, Roger L. , Pelttari, L M , Dörk, Thilo , Lambrechts, Diether , Kiemeney, Lambertus A , McNeish, Iain A , Peterlongo, Paolo , Ramus, Susan J , Teixeira, Manuel R , Tworoger, Shelley S , van Rensburg, Elizabeth J , Hein, Alexander , Hillemanns, Peter , Jensen, Allan , Vierkant, Robert A , Eccles, Diana , Menon, Usha , Monteiro, Alvaro N , Swerdlow, Anthony J , Moysich, Kirsten , Radice, Paolo , Lissowska, Jolanta , Claes, Kathleen B M , Campbell, Ian G , Eeles, Rosalind A , Southey, Melissa C , Menkiszak, Janusz , Donovan, Jenny L , Muir, Kenneth , Schleutker, Johanna , Travis, Ruth C , Lin, Hui-Yi , Fogarty, Zachary C , Dunning, Alison M , Heitz, Florian , Jakubowska, Anna , Jones, Michael E , Kupryjanczyk, Jolanta , Lambrechts, Diether , Sieh, Weiva , Brenner, Hermann , Guénel, Pascal , Li, Jingmei , Muranen, Taru A , Torres, Diana , García-Closas, Montserrat , Schmidt, Marjanka K , Winship, Ingrid M , Ekici, Arif B , Michailidou, Kyriaki , Hartikainen, Jaana M , Bogdanova, Natalia V , Kraft, Peter , Benitez, Javier , Simard, Jacques , Chenevix-Trench, Georgia , Zheng, Wei , Figueroa, Jonine D , Høgdall, Estrid , Høgdall, Claus K , Batra, Jyotsna , Pylkäs, Katri , Yannoukakos, Drakoulis , Devilee, Peter , Lubinski, Jan , Fletcher, Olivia , Bojesen, Stig E , Goodman, Marc T , Truong, Therese , Mclean, Catriona , Brauch, Hiltrud , Lindblom, Annika , Sawyer, Elinor J , Orr, Nick
Journal of Medical Genetics | September 5, 2016 | Volume: 53 | Issue: 12 | Pages: 800-811
Background The rarity of mutations in PALB2, CHEK2 and ATM make it difficult to estimate precisely associated cancer risks. Population-based family studies have provided evidence that at least some of these mutations are associated with breast cancer risk as high as those associated with rare BRCA2 mutations. We aimed to estimate the relative risks associated with specific rare variants in PALB2, CHEK2 and ATM via a multicentre case-control study. Methods We genotyped 10 rare mutations using the custom iCOGS array: PALB2 c.1592delT, c.2816T>G and c.3113G>A, CHEK2 c.349A>G, c.538C>T, c.715G>A, c.1036C>T, c.1312G>T, and c.1343T>G and ATM c.7271T>G. We assessed associations with breast cancer risk (42 671 cases and 42 164 controls), as well as prostate (22 301 cases and 22 320 controls) and ovarian (14 542 cases and 23 491 controls) cancer risk, for each variant. Results For European women, strong evidence of association with breast cancer risk was observed for PALB2 c.1592delT OR 3.44 (95% CI 1.39 to 8.52, p=7.1×10−5), PALB2 c.3113G>A OR 4.21 (95% CI 1.84 to 9.60, p=6.9×10−8) and ATM c.7271T>G OR 11.0 (95% CI 1.42 to 85.7, p=0.0012). We also found evidence of association with breast cancer risk for three variants in CHEK2, c.349A>G OR 2.26 (95% CI 1.29 to 3.95), c.1036C>T OR 5.06 (95% CI 1.09 to 23.5) and c.538C>T OR 1.33 (95% CI 1.05 to 1.67) (p≤0.017). Evidence for prostate cancer risk was observed for CHEK2 c.1343T>G OR 3.03 (95% CI 1.53 to 6.03, p=0.0006) for African men and CHEK2 c.1312G>T OR 2.21 (95% CI 1.06 to 4.63, p=0.030) for European men. No evidence of association with ovarian cancer was found for any of these variants. Conclusions This report adds to accumulating evidence that at least some variants in these genes are associated with an increased risk of breast cancer that is clinically important.
Inherited variants affecting RNA editing may contribute to ovarian cancer susceptibility: results from a large-scale collaboration
Group, AOCS Study, Reid, Brett M. , Earp, Madalene A. , Chen, Y. Ann , Monteiro, Álvaro N.A. , Chen, Zhihua , Chenevix‐Trench, Georgia , Fasching, Peter A. , Beckmann, Matthias W. , Lambrechts, Diether , Vanderstichele, Adriaan , Niewenhuyse, Els Van, Vergote, Ignace , Rossing, Mary Anne, Chang‐Claude, Jenny, Moysich, Kirsten, Odunsi, Kunle , Goodman, Marc T. , Shvetsov, Yurii B. , Thompson, Pamela J., Dörk, Thilo , Bogdanova, Natalia , Pelttari, Liisa M. , Leminen, Arto, Edwards, Robert P., Ness, Roberta B., Kelley, Joseph L., Lester, Jenny, Jensen, Allan , Hildebrandt, Michelle, Liang, Dong , Lu, Karen H., Wu, Xifeng , Levine, Douglas A. , Bisogna, Maria, Berchuck, Andrew, Terry, Kathryn L. , Tworoger, Shelley S. , Cunningham, Julie M. , Winham, Stacey J. , Olson, Sara H. , Kiemeney, Lambertus A. , Massuger, Leon F.A.G. , Moffitt, Melissa , Le, Nhu, Kelemen, Linda E. , Lubiński, Jan , Wentzensen, Nicolas, Brinton, Louise A. , Lissowska, Jolanta , Yang, Hanna , Høgdall, Estrid , Høgdall, Claus , Lundvall, Lene, Song, Honglin , Campbell, Ian , Eccles, Diana , McNeish, Iain A. , Whittemore, Alice S. , McGuire, Valerie, Sieh, Weiva , Rothstein, Joseph H. , Phelan, Catherine M., Narod, Steven A., McLaughlin, John, Ziogas, Argyrios, Menon, Usha , Gayther, Simon A. , Ramus, Susan J. , Pearce, Celeste Leigh, Wu, Anna H. , Kupryjańczyk, Jolanta , Dansonka‐Mieszkowska, Agnieszka , Schildkraut, Joellen M. , Cheng, Jin Q. , Goode, Ellen L. , Sellers, Thomas A. , Lu, Karen H. , Lambrechts, Diether , Earp, Madalene, Cunningham, Julie, Permuth, Jennifer B. , Group, AOCS Study, Doherty, Jennifer A. , Wilkens, Lynne R. , Bützow, Ralf C. , Nevanlinna, Heli , Modugno, Francesmary , Heitz, Florian , Karlan, Beth Y. , Lester, Jenny, Kjær, Susanne K. , Giles, Graham G. , Cramer, Daniel W. , Poole, Elizabeth M. , Bandera, Elisa V. , Fridley, Brooke L. , Orlow, Irene , Bjørge, Line , Pejovic, Tanja B. , Cook, Linda S. , Brooks‐Wilson, Angela , Gronwald, Jacek , Wentzensen, Nicolas , Pharoah, Paul D.P. , Risch, Harvey A. , McLaughlin, John, Anton‐Culver, Hoda , Gentry‐Maharaj, Aleksandra , Pelttari, L M , Winham, Stacey J , Dörk, Thilo , Lambrechts, Diether , Kiemeney, Lambertus A , McNeish, Iain A , Ramus, Susan J , Tworoger, Shelley S , Vanderstichele, Adriaan , Jensen, Allan , Eccles, Diana , Menon, Usha , Monteiro, Alvaro N , Moysich, Kirsten , Lissowska, Jolanta , Campbell, Ian G , Kupryjanczyk, Jolanta , Lambrechts, Diether , Sieh, Weiva , Bogdanova, Natalia V , Chenevix-Trench, Georgia , Høgdall, Estrid , Høgdall, Claus K , Lubinski, Jan , Goodman, Marc T
Oncotarget | July 28, 2016 | Volume: 7 | Issue: 45 | Pages: 72381-72394
Assessment of variation in immunosuppressive pathway genes reveals TGFBR2 to be associated with risk of clear cell ovarian cancer
Hampras, Shalaka , Sucheston‐Campbell, Lara, Cannioto, Rikki , Chang‐Claude, Jenny , Dörk, Thilo , Hillemanns, Peter , Preus, Leah, Knutson, Keith L. , Wallace, Paul K. , Friel, Grace , Davis, Warren , Nesline, Mary , Pearce, Celeste Leigh, Kelemen, Linda E. , Goodman, Marc T. , Terry, Kathryn L. , Schoof, Nils , Eng, Kevin H., Clay‐Gilmour, Alyssa , Joseph, Janine M. , Aben, Katja K.H. , Antonenkova, Natalia, Baker, Helen , Bean, Yukie T., Beckmann, Matthias W. , Bisogna, Maria, Bogdanova, Natalia , Brinton, Louise A. , Bruinsma, Fiona , Campbell, Ian , Carty, Karen , Dansonka‐Mieszkowska, Agnieszka , Despierre, Evelyn, Dicks, Ed , Easton, Doug , Eccles, Diana , Edwards, Robert P., Ekici, Arif B. , Fasching, Peter A. , Gao, Yu‐Tang , Harrington, Patricia, Harter, Philipp , Hasmad, Hanis Nazihah, Hein, Alexander , Heitz, Florian , Hildebrandt, Michelle A.T., Høgdall, Claus , Høgdall, Estrid , Hosono, Satoyo , Iversen, Edwin S., Jakubowska, Anna , Jensen, Allan , Ji, Bu‐Tian , Kellar, Melissa, Kelley, Joseph L., Kiemeney, Lambertus A. , Klapdor, Rüdiger , Kolomeyevskaya, Nonna, Krakstad, Camilla , Kruszka, Bridget, Kupryjańczyk, Jolanta , Lambrechts, Diether , Lambrechts, Sandrina, Le, Nhu D. , Lee, Alice W. , Lele, Shashikant , Leminen, Arto, Lester, Jenny, Levine, Douglas A. , Liang, Dong , Lissowska, Jolanta , Liu, Song , Lu, Karen, Lubiński, Jan , Lundvall, Lene, Massuger, Leon F.A.G. , Matsuo, Keitaro , McGuire, V., McLaughlin, John R., McNeish, Iain A. , Menon, Usha , Moes-Sosnowska, Joanna , Narod, Steven A., Nedergaard, Lotte , Nickels, Stefan , Olson, Sara H. , Weber, Rachel Palmieri , Paul, James , Pelttari, Liisa M. , Perkins, Barbara, Permuth‐Wey, Jenny, Pike, Malcolm C., Plisiecka-Hałasa, Joanna, Rossing, Mary Anne, Rothstein, Joseph H. , Runnebaum, Ingo B. , Rzepecka, Iwona K. , Salvesen, Helga B., Schernhammer, Eva , Schmitt, Kristina, Schwaab, Ira, Shvetsov, Yurii B. , Sieh, Weiva , Song, Honglin , Southey, Melissa C. , Tangen, Ingvild L. , Teo, Soo‐Hwang , Thompson, Pamela J., Timorek, Agnieszka, Tworoger, Shelley S. , Altena, Anna M. van, Vergote, Ignace , Vierkant, Robert A. , Walsh, Christine , Wang‐Gohrke, Shan , Wentzensen, Nicolas, Whittemore, Alice S. , Wicklund, Kristine G. , Wu, Anna H. , Wu, Xifeng , Woo, Yin Ling , Zheng, Wei , Gayther, Simon A. , Ramus, Susan J. , Sellers, Thomas A. , Schildkraut, Joellen M. , Phelan, Catherine M., Chenevix‐Trench, Georgia , Cunningham, Julie M. , Ness, Roberta B., Odunsi, Kunle , Goode, Ellen L. , Moysich, Kirsten B., Lu, Karen H. , Lambrechts, Diether , Modugno, Francesmary , Knutson, Keith L. , Hong, Chi‐Chen , Bandera, Elisa V. , Singh, Prashant Kumar , Anton‐Culver, Hoda , Bjørge, Line , Brooks‐Wilson, Angela , Bützow, Ralf C. , Cook, Linda S. , Cramer, Daniel W. , Cybulski, Cezary , Dennis, Joe , Doherty, Jennifer A. , Bois, Andreas du , Dürst, Matthias , Fridley, Brooke L. , Gentry‐Maharaj, Aleksandra , Giles, Graham G. , Glasspool, Rosalind , Gronwald, Jacek , Hildebrandt, Michelle A.T. , Karlan, Beth Y. , Kjær, Susanne K. , Lu, Karen, McLaughlin, John R., Nevanlinna, Heli , Orlow, Irene , Pejovic, Tanja B. , Poole, Elizabeth M. , Risch, Harvey A. , Rudolph, Anja , Shu, Xiao‐Ou , Siddiqui, Nadeem , Tyrer, Jonathan P. , Wentzensen, Nicolas , Wilkens, Lynne R. , Yang, Hannah , Ziogas, Argyrios , Berchuck, Andrew , Pharoah, Paul D.P. , Pelttari, L M , Dörk, Thilo , Lambrechts, Diether , Kiemeney, Lambertus A , McNeish, Iain A , Ramus, Susan J , Teo, Soo H , Tworoger, Shelley S , Hein, Alexander , Hillemanns, Peter , Jensen, Allan , Vierkant, Robert A , Eccles, Diana , Menon, Usha , Paul, James , Moysich, Kirsten , Lissowska, Jolanta , Campbell, Ian G , Southey, Melissa C , Matsuo, Keitaro , Heitz, Florian , Jakubowska, Anna , Kupryjanczyk, Jolanta , Lambrechts, Diether , Sieh, Weiva , Ekici, Arif B , Bogdanova, Natalia V , Chenevix-Trench, Georgia , Zheng, Wei , Høgdall, Estrid , Høgdall, Claus K , Lubinski, Jan , Goodman, Marc T
Oncotarget | July 6, 2016 | Volume: 7 | Issue: 43 | Pages: 69097-69110
Network-Based Integration of GWAS and Gene Expression Identifies a HOX -Centric Network Associated with Serous Ovarian Cancer Risk
Kar, Siddhartha , Lawrenson, Kate , Aben, Katja K.H. , Antonenkova, Natalia, Chenevix‐Trench, Georgia , Study, on behalf of the Australian Cancer, Group, and on behalf of the Australian Ovarian Cancer Study, Baker, Helen , Bean, Yukie T., Beckmann, Matthias W. , Bisogna, Maria, Bogdanova, Natalia , Brinton, Louise A. , Campbell, Ian , Carty, Karen , Chang‐Claude, Jenny , Chen, Y. Ann , Chen, Zhihua , Cunningham, Julie M. , Dansonka‐Mieszkowska, Agnieszka , Dicks, Ed , Dörk, Thilo , Eccles, Diana , Easton, Douglas F. , Edwards, Robert P., Ekici, Arif B. , Fasching, Peter A. , Gao, Yu‐Tang , Giles, Graham G. , Glasspool, Rosalind , Goode, Ellen L. , Goodman, Marc T. , Grownwald, Jacek, Harrington, Patricia, Harter, Philipp , Hein, Alexander , Heitz, Florian , Hildebrandt, Michelle A.T., Hillemanns, Peter , Høgdall, Estrid , Høgdall, Claus , Hosono, Satoyo , Iversen, Edwin S., Jakubowska, Anna , Jensen, Allan , Ji, Bu‐Tian , Kjær, Susanne K. , Kelemen, Linda E. , Kellar, Melissa, Kelley, Joseph L., Kiemeney, Lambertus A. , Krakstad, Camilla , Kupryjańczyk, Jolanta , Lambrechts, Diether , Lambrechts, Sandrina, Le, Nhu D. , Lee, Alice W. , Lele, Shashi, Leminen, Arto, Lester, Jenny, Levine, Douglas A. , Liang, Dong , Lissowska, Jolanta , Lu, Karen, Lubiński, Jan , Lundvall, Lene, Massuger, Leon F.A.G. , Matsuo, Keitaro , McGuire, Valerie , McLaughlin, John R., McNeish, Iain A. , Menon, Usha , Moysich, Kirsten B., Narod, Steven A., Nedergaard, Lotte , Ness, Roberta B., Odunsi, Kunle , Olson, Sara H. , Orlow, Irene , Oršulić, Sandra , Weber, Rachel Palmieri , Pearce, Celeste Leigh, Pelttari, Liisa M. , Permuth‐Wey, Jennifer, Phelan, Catherine M., Pike, Malcolm C., Ramus, Susan J. , Rossing, Mary Anne, Rothstein, Joseph H. , Runnebaum, Ingo B. , Rzepecka, Iwona K. , Salvesen, Helga B., Schildkraut, Joellen M. , Schwaab, Ira, Shvetsov, Yurii B. , Sieh, Weiva , Song, Honglin , Southey, Melissa C. , Sucheston‐Campbell, Lara, Tangen, Ingvild L. , Teo, Soo‐Hwang , Terry, Kathryn L. , Thompson, Pamela J., Timorek, Agnieszka, Tworoger, Shelley S. , Altena, Anne M. van , Nieuwenhuysen, Els Van , Vergote, Ignace , Vierkant, Robert A. , Wang‐Gohrke, Shan , Walsh, Christine , Wentzensen, Nicolas, Whittemore, Alice S. , Wicklund, Kristine G. , Woo, Yin Ling , Wu, Xifeng , Wu, Anna H. , Zheng, Wei , Sellers, Thomas A. , Monteiro, Álvaro N.A. , Freedman, Matthew L., Gayther, Simon A. , Lu, Karen H. , Lambrechts, Diether , Tyrer, Jonathan P. , Li, Qiyuan , Anton‐Culver, Hoda , Study, on behalf of the Australian Cancer, Group, and on behalf of the Australian Ovarian Cancer Study, Bandera, Elisa V. , Berchuck, Andrew , Bjørge, Line , Brooks‐Wilson, Angela , Bützow, Ralf C. , Cook, Linda S. , Cramer, Daniel W. , Cybulski, Cezary , Dennis, Joe , Doherty, Jennifer A. , Bois, Andreas du , Dürst, Matthias , Fridley, Brooke L. , Gentry‐Maharaj, Aleksandra , Hildebrandt, Michelle A.T. , Paul, James , Karlan, Beth Y. , Lu, Karen, McLaughlin, John R., Modugno, Francesmary , Nevanlinna, Heli , Pejovic, Tanja B. , Poole, Elizabeth M. , Risch, Harvey A. , Rosen, Barry P. , Rudolph, Anja , Shu, Xiao‐Ou , Siddiqui, Nadeem , Wentzensen, Nicolas , Wilkens, Lynne R. , Yang, Hannah , Ziogas, Argyrios , Pharoah, Paul D.P. , Pelttari, L M , Dörk, Thilo , Lambrechts, Diether , Giles, Graham G , Kiemeney, Lambertus A , Kjaer, Susanne K , McNeish, Iain A , Ramus, Susan J , Teo, Soo H , Tworoger, Shelley S , Hein, Alexander , Hillemanns, Peter , Jensen, Allan , Vierkant, Robert A , Eccles, Diana , Menon, Usha , Lawrenson, Kate , Monteiro, Alvaro N , Moysich, Kirsten , Orlow, Irene , Lissowska, Jolanta , Campbell, Ian G , Southey, Melissa C , Glasspool, Rosalind , Matsuo, Keitaro , Heitz, Florian , Jakubowska, Anna , Kupryjanczyk, Jolanta , Lambrechts, Diether , Sieh, Weiva , Ekici, Arif B , Bogdanova, Natalia V , Chenevix-Trench, Georgia , Zheng, Wei , Høgdall, Estrid , Høgdall, Claus K , Kar, Siddhartha , Lubinski, Jan , Goodman, Marc T
Cancer Epidemiology, Biomarkers & Prevention | July 24, 2015 | Volume: 24 | Issue: 10 | Pages: 1574-1584
Abstract Background: Genome-wide association studies (GWAS) have so far reported 12 loci associated with serous epithelial ovarian cancer (EOC) risk. We hypothesized that some of these loci function through nearby transcription factor (TF) genes and that putative target genes of these TFs as identified by coexpression may also be enriched for additional EOC risk associations. Methods: We selected TF genes within 1 Mb of the top signal at the 12 genome-wide significant risk loci. Mutual information, a form of correlation, was used to build networks of genes strongly coexpressed with each selected TF gene in the unified microarray dataset of 489 serous EOC tumors from The Cancer Genome Atlas. Genes represented in this dataset were subsequently ranked using a gene-level test based on results for germline SNPs from a serous EOC GWAS meta-analysis (2,196 cases/4,396 controls). Results: Gene set enrichment analysis identified six networks centered on TF genes (HOXB2, HOXB5, HOXB6, HOXB7 at 17q21.32 and HOXD1, HOXD3 at 2q31) that were significantly enriched for genes from the risk-associated end of the ranked list (P < 0.05 and FDR < 0.05). These results were replicated (P < 0.05) using an independent association study (7,035 cases/21,693 controls). Genes underlying enrichment in the six networks were pooled into a combined network. Conclusion: We identified a HOX-centric network associated with serous EOC risk containing several genes with known or emerging roles in serous EOC development. Impact: Network analysis integrating large, context-specific datasets has the potential to offer mechanistic insights into cancer susceptibility and prioritize genes for experimental characterization. Cancer Epidemiol Biomarkers Prev; 24(10); 1574–84. ©2015 AACR.
Cell-type-specific enrichment of risk-associated regulatory elements at ovarian cancer susceptibility loci
Coetzee, Simon G. , Shen, Howard C., Hazelett, Dennis J. , Lawrenson, Kate , Kuchenbaecker, Karoline , Rhie, Suhn K. , Levanon, Keren , Karst, Alison M., Drapkin, Ronny , Ramus, Susan J. , Offit, Kenneth, Chenevix‐Trench, Georgia , Monteiro, Álvaro N.A. , Antoniou, Antonis C. , Freedman, Matthew L., Coetzee, Gerhard A. , Gayther, Simon A. , Antonenkova, Natalia, Bean, Yukie T., Beckmann, Matthias W. , Bisogna, Maria, Bogdanova, Natalia , Brinton, Louise A. , Bruinsma, Fiona , Chang‐Claude, Jenny, Chen, Ann , Chen, Zhihua , Cunningham, Julie M. , Dansonka‐Mieszkowska, Agnieszka , Dicks, Ed , Dörk, Thilo , Eccles, Diana , Easton, Douglas F. , Edwards, Robert P., Eilber, Ursula, Ekici, Arif B. , Fasching, Peter A. , Gao, Yu‐Tang , Giles, Graham G. , Glasspool, Rosalind , Goode, Ellen L. , Grownwald, Jacek, Harrington, Patricia, Harter, Philipp , Hasmad, Hanis Nazihah, Hein, Alexander , Heitz, Florian , Hildebrandt, Michelle A.T., Hillemanns, Peter , Høgdall, Claus , Hosono, Satoyo , Iversen, Edwin S., Jakubowska, Anna , James, Paul A. , Jensen, Allan , Ji, Bu‐Tian , Kjær, Susanne K. , Kelemen, Linda E. , Kellar, Melissa, Kelley, Joseph L., Kiemeney, Lambertus A. , Krakstad, Camilla , Kupryjańczyk, Jolanta , Lambrechts, Diether , Lambrechts, Sandrina, Le, Nhu D. , Lele, Shashi, Leminen, Arto, Lester, Jenny, Levine, Douglas A. , Lissowska, Jolanta , Lu, Karen, Lubiński, Jan , Lundvall, Lene, Massuger, Leon F.A.G. , Matsuo, Keitaro , McGuire, Valerie , McLaughlin, John R., McNeish, Ian, Menon, Usha , Moysich, Kirsten B., Narod, Steven A., Nedergaard, Lotte , Ness, Roberta B., Azmi, Mat Adenan Noor, Odunsi, Kunle , Oršulić, Sandra , Pearce, Celeste Leigh, Pelttari, Liisa M. , Permuth‐Wey, Jennifer, Phelan, Catherine M., Pike, Malcolm C., Rossing, Mary Anne, Rothstein, Joseph H. , Runnebaum, Ingo B., Rzepecka, Iwona K. , Salvesen, Helga B., Schildkraut, Joellen M. , Schwaab, Ira, Sellers, Thomas A. , Shu, Xiao‐Ou, Shvetsov, Yurii B. , Sieh, Weiva , Song, Honglin , Southey, Melissa C. , Sucheston, Lara, Tangen, Ingvild L. , Teo, Soo‐Hwang , Thompson, Pamela J., Timorek, Agnieszka, Tworoger, Shelley S. , Altena, Anne M. van , Nieuwenhuysen, Els Van , Vergote, Ignace , Vierkant, Robert A. , Wang‐Gohrke, Shan , Walsh, Christine , Wentzensen, Nicolas, Whittemore, Alice S. , Wicklund, Kristine G. , Woo, Yin Ling , Wu, Xifeng , Wu, Anna H. , Lu, Karen H. , McNeish, Iain A. , Lambrechts, Diether , Tyrer, Jonathan P. , Couch, Fergus J. , Pharoah, Paul D.P. , Noushmehr, Houtan , Anton‐Culver, Hoda , Baker, Helen H. , Bandera, Elisa V. , Berchuck, Andrew , Bjørge, Line , Brooks‐Wilson, Angela , Bützow, Ralf C. , Campbell, Ian , Carty, Karen , Cook, Linda S. , Cramer, Daniel W. , Cybulski, Cezary , Dennis, Joe , Doherty, Jennifer A. , Bois, Andreas du , Dürst, Matthias , Fridley, Brooke L. , Gentry‐Maharaj, Aleksandra , Goodman, Marc T. , Hildebrandt, Michelle A.T. , Høgdall, Estrid , Karlan, Beth Y. , Lester, Jenny, Liang, Dong , Lu, Karen, McLaughlin, John R., McNeish, Ian, Modugno, Francesmary , Olson, Sara H. , Orlow, Irene , Weber, Rachel Palmieri , Pejovic, Tanja B. , Poole, Elizabeth M. , Risch, Harvey A. , Rosen, Barry P. , Rudolph, Anja , Siddiqui, Nadeem , Terry, Kathryn L. , Wentzensen, Nicolas , Wilkens, Lynne R. , Yang, Hannah , Zheng, Wei , Ziogas, Argyrios , Pelttari, L M , Dörk, Thilo , Lambrechts, Diether , Giles, Graham G , James, Paul , Kiemeney, Lambertus A , Kjaer, Susanne K , McNeish, Iain A , Ramus, Susan J , Teo, Soo H , Tworoger, Shelley S , Hein, Alexander , Hillemanns, Peter , Jensen, Allan , Vierkant, Robert A , Eccles, Diana , Menon, Usha , Lawrenson, Kate , Hazelett, Dennis J , Coetzee, Simon G , Monteiro, Alvaro N , Lissowska, Jolanta , Southey, Melissa C , Glasspool, Rosalind , Matsuo, Keitaro , Heitz, Florian , Jakubowska, Anna , Kupryjanczyk, Jolanta , Lambrechts, Diether , Sieh, Weiva , Ekici, Arif B , Bogdanova, Natalia V , Chenevix-Trench, Georgia , Drapkin, Ronny , Høgdall, Claus K , Lubinski, Jan
Human Molecular Genetics | March 24, 2015 | Volume: 24 | Issue: 13 | Pages: 3595-3607
Consortium analysis of gene and gene–folate interactions in purine and pyrimidine metabolism pathways with ovarian carcinoma risk
Kelemen, Linda E. , Terry, Kathryn L. , Goodman, Marc T. , Webb, Penelope M. , McGuire, Valerie , Rossing, Mary Anne, Wang, Qinggang , Dicks, Ed , Song, Honglin , Kupryjańczyk, Jolanta , Dansonka‐Mieszkowska, Agnieszka , Plisiecka-Hałasa, Joanna, Timorek, Agnieszka, Menon, Usha , Gayther, Simon A. , Ramus, Susan J. , Narod, Steven A., McLaughlin, John R., Glasspool, Rosalind , Lubiński, Jan , Jakubowska, Anna , Kiemeney, Lambertus A. , Massuger, Leon F.A.G. , Altena, Anne M. van , Aben, Katja K.H. , Olson, Sara H. , Orlow, Irene , Levine, Douglas A. , Bisogna, Maria, Southey, Melissa C. , Bruinsma, Fiona , Kjær, Susanne K. , Høgdall, Estrid , Jensen, Allan , Høgdall, Claus , Lundvall, Lene, Engelholm, Svend‐Aage, Harter, Philipp , Schwaab, Ira, Nevanlinna, Heli , Pelttari, Liisa M. , Leminen, Arto, Thompson, Pamela J., Lurie, Galina, Lambrechts, Diether , Nieuwenhuysen, Els Van , Lambrechts, Sandrina, Vergote, Ignace , Beesley, Jonathan, Investigators, AOCS Study Group/ACS, Fasching, Peter A. , Beckmann, Matthias W. , Hein, Alexander , Ekici, Arif B. , Wu, Anna H. , Pearce, Celeste Leigh, Pike, Malcolm C., Chang‐Claude, Jenny , Dörk, Thilo , Hillemanns, Peter , Runnebaum, Ingo B. , Bogdanova, Natalia , Antonenkova, Natalia, Odunsi, Kunle , Edwards, Robert P., Kelley, Joseph L., Ness, Roberta B., Walsh, Christine , Lester, Jenny, Oršulić, Sandra , Vierkant, Robert A. , Cunningham, Julie M. , Wu, Xifeng , Lu, Karen H., Hildebrandt, Michelle A.T., Weber, Rachel Palmieri , Iversen, Edwin S., Tworoger, Shelley S. , Salvesen, Helga B., Tangen, Ingvild L. , Bean, Yukie T., Kellar, Melissa, Wentzensen, Nicolas , Brinton, Louise A. , Lissowska, Jolanta , García‐Closas, Montserrat , Campbell, Ian , Eccles, Diana , Whittemore, Alice S. , Sieh, Weiva , Rothstein, Joseph H. , Phelan, Catherine M., Moysich, Kirsten B., Goode, Ellen L. , Schildkraut, Joellen M. , Sellers, Thomas A. , Le, Nhu D. , Lu, Karen H. , Zheng, Wei , Lambrechts, Diether , Bandera, Elisa V. , Tyrer, Jonathan P. , Gentry‐Maharaj, Aleksandra , Risch, Harvey A. , McLaughlin, John R., Siddiqui, Nadeem , Paul, James , Carty, Karen , Gronwald, Jacek , Cybulski, Cezary , Cramer, Daniel W. , Giles, Graham G. , Heitz, Florian , Bois, Andreas du , Bützow, Ralf C. , Wilkens, Lynne R. , Beesley, Jonathan, Investigators, AOCS Study Group/ACS, Doherty, Jennifer A. , Stram, Daniel O. , Rudolph, Anja , Dürst, Matthias , Modugno, Francesmary , Karlan, Beth Y. , Fridley, Brooke L. , Liang, Dong , Hildebrandt, Michelle A.T. , Poole, Elizabeth M. , Krakstad, Camilla , Bjørge, Line , Pejovic, Tanja B. , Anton‐Culver, Hoda , Ziogas, Argyrios , Berchuck, Andrew , Pharoah, Paul D.P. , Brooks‐Wilson, Angela , Cook, Linda S. , Pelttari, L M , Nevanlinna, H , Dörk, Thilo , Lambrechts, Diether , Kiemeney, Lambertus A , Kjaer, Susanne K , Ramus, Susan J , Tworoger, Shelley S , Webb, Penelope M , Hein, Alexander , Hillemanns, Peter , Jensen, Allan , Vierkant, Robert A , Eccles, Diana , Menon, Usha , Moysich, Kirsten , Orlow, Irene , Lissowska, Jolanta , Campbell, Ian G , Southey, Melissa C , Glasspool, Rosalind , Jakubowska, Anna , Kupryjanczyk, Jolanta , Lambrechts, Diether , Sieh, Weiva , García-Closas, Montserrat , Ekici, Arif B , Bogdanova, Natalia V , Zheng, Wei , Høgdall, Estrid , Høgdall, Claus K , Lubinski, Jan , Goodman, Marc T
Molecular Nutrition & Food Research | July 28, 2014 | Volume: 58 | Issue: 10 | Pages: 2023-2035
ScopeWe reevaluated previously reported associations between variants in pathways of one‐carbon (1‐C) (folate) transfer genes and ovarian carcinoma (OC) risk, and in related pathways of purine and pyrimidine metabolism, and assessed interactions with folate intake.Methods and resultsOdds ratios (OR) for 446 genetic variants were estimated among 13 410 OC cases and 22 635 controls, and among 2281 cases and 3444 controls with folate information. Following multiple testing correction, the most significant main effect associations were for dihydropyrimidine dehydrogenase (DPYD) variants rs11587873 (OR = 0.92; p = 6 × 10−5) and rs828054 (OR = 1.06; p = 1 × 10−4). Thirteen variants in the pyrimidine metabolism genes, DPYD, DPYS, PPAT, and TYMS, also interacted significantly with folate in a multivariant analysis (corrected p = 9.9 × 10−6) but collectively explained only 0.2% of OC risk. Although no other associations were significant after multiple testing correction, variants in SHMT1 in 1‐C transfer, previously reported with OC, suggested lower risk at higher folate (pinteraction = 0.03–0.006).ConclusionVariation in pyrimidine metabolism genes, particularly DPYD, which was previously reported to be associated with OC, may influence risk; however, stratification by folate intake is unlikely to modify disease risk appreciably in these women. SHMT1 SNP‐by‐folate interactions are plausible but require further validation. Polymorphisms in selected genes in purine metabolism were not associated with OC.