Citations 3
Gene–environment interactions involving functional variants: Results from the Breast Cancer Association Consortium
Barrdahl, Myrto , Hopper, John L. , Southey, Melissa C. , Fasching, Peter A. , Beckmann, Matthias W. , Gago-Domínguez, Manuela , Castelao, Jose E. , Guénel, Pascal , Truong, Thérèse , Bojesen, Stig E. , Gapstur, Susan M. , Gaudet, Mia M. , Brenner, Hermann , Brauch, Hiltrud , Hamann, Ute , Mannermaa, Arto, Lambrechts, Diether , Jongen, Lynn , Flesch‐Janys, Dieter, Thoene, Kathrin, Couch, Fergus J. , Simard, Jacques , Goldberg, Mark S. , Figueroa, Jonine D. , Michailidou, Kyriaki , Bolla, Manjeet K. , Wang, Qin , Eilber, Ursula, Swerdlow, Anthony J. , Schoemaker, Minouk J. , García‐Closas, Montserrat , Easton, Douglas F. , Chang‐Claude, Jenny , Durocher, Francine , Barrdahl, Myrto , Lambrechts, Diether , Rudolph, Anja , Fasching, Peter A , Barrdahl, Myrto , Rudolph, Anja , Broeks, Annegien , Arndt, Volker , Mannermaa, Arto, Couch, Fergus J. , Giles, Graham G. , Dennis, Joe , Behrens, Sabine , Czene, Kamila , Hall, Per N , Cox, Angela , Cross, Simon S. , Dunning, Alison M. , Kaaks, Rudolf , Pharoah, Paul D.P. , Schmidt, Marjanka K. , Milne, Roger L. , Lambrechts, Diether , Swerdlow, Anthony J , Southey, Melissa C , Lambrechts, Diether , Brenner, Hermann , Gago-Dominguez, Manuela , Guénel, Pascal , García-Closas, Montserrat , Michailidou, Kyriaki , Simard, Jacques , Figueroa, Jonine D , Bojesen, Stig E , Schoemaker, Minouk J , Truong, Therese , Brauch, Hiltrud
International Journal of Cancer | July 3, 2017 | Volume: 141 | Issue: 9 | Pages: 1830-1840
Investigating the most likely causal variants identified by fine‐mapping analyses may improve the power to detect gene–environment interactions. We assessed the interplay between 70 single nucleotide polymorphisms identified by genetic fine‐scale mapping of susceptibility loci and 11 epidemiological breast cancer risk factors in relation to breast cancer. Analyses were conducted on up to 58,573 subjects (26,968 cases and 31,605 controls) from the Breast Cancer Association Consortium, in one of the largest studies of its kind. Analyses were carried out separately for estrogen receptor (ER) positive (ER+) and ER negative (ER–) disease. The Bayesian False Discovery Probability (BFDP) was computed to assess the noteworthiness of the results. Four potential gene–environment interactions were identified as noteworthy (BFDP < 0.80) when assuming a true prior interaction probability of 0.01. The strongest interaction result in relation to overall breast cancer risk was found between CFLAR‐rs7558475 and current smoking (ORint = 0.77, 95% CI: 0.67–0.88, pint = 1.8 × 10−4). The interaction with the strongest statistical evidence was found between 5q14‐rs7707921 and alcohol consumption (ORint =1.36, 95% CI: 1.16–1.59, pint = 1.9 × 10−5) in relation to ER– disease risk. The remaining two gene–environment interactions were also identified in relation to ER– breast cancer risk and were found between 3p21‐rs6796502 and age at menarche (ORint = 1.26, 95% CI: 1.12–1.43, pint =1.8 × 10−4) and between 8q23‐rs13267382 and age at first full‐term pregnancy (ORint = 0.89, 95% CI: 0.83–0.95, pint = 5.2 × 10−4). While these results do not suggest any strong gene–environment interactions, our results may still be useful to inform experimental studies. These may in turn, shed light on the potential interactions observed.
Identification and characterization of novel associations in the CASP8/ALS2CR12 region on chromosome 2 with breast cancer risk
Lin, Wei‐Yu , Camp, Nicola J. , Ghoussaini, Maya , Beesley, Jonathan, Michailidou, Kyriaki , Hopper, John L. , Apicella, Carmel, Southey, Melissa C. , Stone, Jennifer , Schmidt, Marjanka K. , Veer, Laura J. van’t , Muir, Kenneth , Lophatananon, Artitaya, Stewart‐Brown, Sarah , Siriwanarangsan, Pornthep, Fasching, Peter A. , Haeberle, Lothar, Ekici, Arif B. , Beckmann, Matthias W. , Peto, Julian, dos‐Santos‐Silva, Isabel , Fletcher, Olivia , Johnson, Nichola , Bolla, Manjeet K. , Wang, Qin, Sawyer, Elinor J. , Cheng, Timothy, Tomlinson, Ian , Kerin, Michael J. , Miller, Nicola, Surowy, Harald , Burwinkel, Barbara , Guénel, Pascal , Truong, Thérèse , Ménégaux, F. , Mulot, Claire , Bojesen, Stig E. , Nordestgaard, Børge G. , Nielsen, Sune F. , Flyger, Henrik, Benı́tez, Javier , Zamora, M. Pilar , Pérez, José Ignacio Arias , Menéndez, Primitiva, González‐Neira, Anna , Pita, Guillermo , Alonso, M. Rosario, Álvarez, Núria, Herrero, Daniel, Brenner, Hermann , Dieffenbach, Aida Karina, Stegmaier, Christa, Meindl, Alfons , Lichtner, Peter , Schmutzler, Rita K., Müller‐Myhsok, Bertram , Brauch, Hiltrud , Brüning, Thomas , Ko, Yon‐Dschun, Network, The GENICA, Tessier, Daniel C., Vincent, Daniel , Bacot, François, Nevanlinna, Heli , Aittomäki, Kristiina, Blomqvist, Carl , Khan, Sofia , Matsuo, Keitaro , Iwata, Hiroji, Horio, Akiyo, Bogdanova, Natalia , Antonenkova, Natalia, Dörk, Thilo , Lindblom, Annika , Margolin, Sara , Mannermaa, Arto, Kataja, Vesa , Kosma, Veli‐Matti, Hartikainen, Jaana M. , Investigators, kConFab, Group, Australian Ovarian Cancer Study, Wu, Anna H. , Tseng, Chiu-Chen , Neven, Patrick , Wauters, Els , Wildiers, Hans , Lambrechts, Diether , Chang‐Claude, Jenny , Flesch‐Janys, Dieter, Radice, Paolo , Peterlongo, Paolo , Manoukian, Siranoush , Couch, Fergus J. , Vachon, Celine M. , Purrington, Kristen S. , Giles, Graham G. , McLean, Catriona , Haiman, Christopher A., Henderson, Brian E., Schumacher, Fredrick R. , Simard, Jacques , Goldberg, Mark S. , Dumont, Martine , Teo, Soo‐Hwang , Yip, Cheng Har , Vithana, Eranga N. , Kristensen, Vessela N. , Deming-Halverson, Sandra, Shrubsole, Martha J. , Long, Jirong , Winqvist, Robert , Pylkäs, Katri , Jukkola‐Vuorinen, Arja , Kauppila, Saila , Andrulis, Irene L. , Knight, Julia A. , Glendon, Gord, Tchatchou, Sandrine, Devilee, Peter , Tollenaar, Robert A.E.M., Seynaeve, Caroline, García‐Closas, Montserrat , Figueroa, Jonine D. , Lissowska, Jolanta , Brinton, Louise A. , Czene, Kamila , Darabi, Hatef, Eriksson, Mikael , Brand, Judith S. , Hooning, Maartje J. , Hollestelle, Antoinette , Ouweland, Ans M.W. van den, Jager, Agnes , Li, Jingmei , Liu, Jianjun , Humphreys, Keith , Shu, Xiao‐Ou , Lu, Wei , Gao, Yu‐Tang , Cai, Hui , Cross, Simon S. , Reed, Malcolm , Blot, William J. , Signorello, Lisa B., Cai, Qiuyin, Perkins, Barbara, Shah, Mitul, Blows, Fiona M., Kang, Daehee , Yoo, Keun-Young, Noh, Dong‐Young , Hartman, Mikael , Miao, Hui , Chia, Kee Seng , Putti, Thomas Choudary , Hamann, Ute , Luccarini, Craig , Baynes, Caroline, Maranian, Mel, Healey, Catherine S., Jakubowska, Anna , Lubiński, Jan , Jaworska–Bieniek, Katarzyna, Durda, Katarzyna, Sangrajrang, Suleeporn , Gaborieau, Valérie , Brennan, Paul , McKay, James , Slager, Susan, Yannoukakos, Drakoulis , Hsiung, Chia‐Ni , Wu, Pei‐Ei , Ding, Shian-ling, Ashworth, Alan , Jones, Michael E. , Orr, Nick , Swerdlow, Anthony J. , Makalic, Enes , Bui, Minh , Hunter, David J. , Hein, Rebecca, Dahmen, Norbert, Beckmann, Lars , Aaltonen, Kirsimari, Muranen, Taru , Heikkinen, Tuomas , Irwanto, Astrid , Rahman, Nazneen , Turnbull, Clare , Study, The Breast and Ovarian Cancer Susceptibility (BOCS), Waisfisz, Quinten , Meijers‐Heijboer, Hanne , Adank, Muriel A. , Luijt, Rob B. van der , Chenevix‐Trench, Georgia , Dunning, Alison M. , Easton, Douglas F. , Cox, Angela , Durocher, Francine , Zheng, Wei , Thorne, Heather , Lambrechts, Diether , Vachon, Celine, Broeks, Annegien , Rutgers, Emiel J. , Wang, Qin, Dennis, Joe , Marmé, Frederik , Anton‐Culver, Hoda , Arndt, Volker , Meindl, Alfons , Network, The GENICA, Ito, Hidemi , Iwata, Hiroji , Mannermaa, Arto , Investigators, kConFab, Group, Australian Ovarian Cancer Study, Berg, David Van Den , Stram, Daniel O. , Rudolph, Anja , Seibold, Petra , Bonanni, Bernardo , Couch, Fergus J. , Wang, Xianshu , Vachon, Celine M. , Milne, Roger L. , Marchand, Loı̈c Le , Labrèche, France , Rudolph, Anja , Zheng, Wei , Asperen, Christi J. van , Eriksson, Mikael , Hooning, Maartje J. , Pharoah, Paul D.P. , Ahmed, Shahana , Toland, Amanda Ewart , Shen, Chen‐Yang , Tsimiklis, Helen , Schmidt, Daniel Frederick , Bui, Minh , Chanock, Stephen Jacob , Study, The Breast and Ovarian Cancer Susceptibility (BOCS), Hall, Per N , Nevanlinna, H , Dörk, Thilo , Lambrechts, Diether , Giles, Graham G , Peterlongo, Paolo , Teo, Soo H , Shrubsole, Martha J , Swerdlow, Anthony J , Radice, Paolo , Lissowska, Jolanta , Southey, Melissa C , van der Luijt, Rob B , Muir, Kenneth , Shu, Xiao-Ou , Matsuo, Keitaro , Dunning, Alison M , Jakubowska, Anna , Jones, Michael E , Lambrechts, Diether , Brenner, Hermann , Cox, Angela , Guénel, Pascal , Hartman, Mikael , Li, Jingmei , Muranen, Taru A , García-Closas, Montserrat , Schmidt, Marjanka K , Makalic, Enes , Ekici, Arif B , Michailidou, Kyriaki , Hartikainen, Jaana M , Bogdanova, Natalia V , Benitez, Javier , Simard, Jacques , Chenevix-Trench, Georgia , Zheng, Wei , Figueroa, Jonine D , Czene, Kamila , Stone, Jennifer , Pylkäs, Katri , Yannoukakos, Drakoulis , Devilee, Peter , Manoukian, Siranoush , Lubinski, Jan , Fletcher, Olivia , Bojesen, Stig E , Purrington, Kristen S , Truong, Therese , Wildiers, Hans , Mclean, Catriona , Brauch, Hiltrud , Lindblom, Annika , Sawyer, Elinor J , Orr, Nick , Liu, Jing , Kang, Daehee
Human Molecular Genetics | August 29, 2014 | Volume: 24 | Issue: 1 | Pages: 285-298
Analysis of Over 10,000 Cases Finds No Association between Previously Reported Candidate Polymorphisms and Ovarian Cancer Outcome
White, Kristin L., Vierkant, Robert A. , Fogarty, Zachary C. , Charbonneau, Bridget, Block, Matthew S. , Chenevix‐Trench, Georgia , group;, for AOCS/ACS, Rossing, Mary Anne, Pearce, Celeste Leigh, Schildkraut, Joellen M. , Menon, Usha , Kjær, Susanne K. , Levine, Douglas A. , Culver, Hoda Anton, Whittemore, Alice S. , Lambrechts, Diether , Wentzensen, Nicolas , Kupryjańczyk, Jolanta , Chang‐Claude, Jenny , Bandera, Elisa V. , Høgdall, Estrid , Heitz, Florian , Kaye, Stanley B., Fasching, Peter A. , Campbell, Ian , Goodman, Marc T. , Bean, Yukie T., Lurie, Galina, Eccles, Diana , Hein, Alexander , Beckmann, Matthias W. , Ekici, Arif B. , Brown, Robert , Flanagan, James M. , Harter, Philipp , Schwaab, Ira, Høgdall, Claus , Lundvall, Lene, Olson, Sara H. , Orlow, Irene , Paddock, Lisa E. , Rudolph, Anja , Eilber, Ursula, Dansonka‐Mieszkowska, Agnieszka , Rzepecka, Iwona K. , Ziółkowska-Seta, Izabela, Brinton, Louise A. , García‐Closas, Montserrat , Despierre, Evelyn, Lambrechts, Sandrina, Vergote, Ignace , Walsh, Christine , Lester, Jenny, Sieh, Weiva , McGuire, Valerie , Rothstein, Joseph H. , Lubiński, Jan , Menkiszak, Janusz , Jensen, Allan , Gayther, Simon A. , Ramus, Susan J. , Wu, Anna H. , Pike, Malcolm C. , DenBerg, David Van, Terry, Kathryn L. , Vitonis, Allison F., Johnatty, Sharon E., DeFazio, Anna , Song, Honglin , Sellers, Thomas A. , Phelan, Catherine M., Kalli, Kimberly R., Cunningham, Julie M. , Goode, Ellen L. , Lambrechts, Diether , Pharoah, Paul D.P. , group;, for AOCS/ACS, Cramer, Daniel W. , Gronwald, Jacek , Karlan, Beth Y. , Pejovic, Tanja B. , Paul, James , Bois, Andreas du , Yang, Hannah , Ziogas, Argyrios , Cybulski, Cezary , Gentry‐Maharaj, Aleksandra , Berchuck, Andrew , Doherty, Jennifer A. , Tyrer, Jonathan P. , Fridley, Brooke L. , Fazio, Anna de , Rudolph, Anja , Lambrechts, Diether , Kjaer, Susanne K , Ramus, Susan J , Hein, Alexander , Jensen, Allan , Vierkant, Robert A , Eccles, Diana , Menon, Usha , Orlow, Irene , Campbell, Ian G , Menkiszak, Janusz , Brown, Robert , Fogarty, Zachary C , Flanagan, James M , Heitz, Florian , Kupryjanczyk, Jolanta , Lambrechts, Diether , Sieh, Weiva , García-Closas, Montserrat , Ekici, Arif B , Chenevix-Trench, Georgia , Høgdall, Estrid , Høgdall, Claus K , Lubinski, Jan , Goodman, Marc T , Bandera, Elisa V.
Cancer Epidemiology, Biomarkers & Prevention | March 19, 2013 | Volume: 22 | Issue: 5 | Pages: 987-992
Abstract Background: Ovarian cancer is a leading cause of cancer-related death among women. In an effort to understand contributors to disease outcome, we evaluated single-nucleotide polymorphisms (SNP) previously associated with ovarian cancer recurrence or survival, specifically in angiogenesis, inflammation, mitosis, and drug disposition genes. Methods: Twenty-seven SNPs in VHL, HGF, IL18, PRKACB, ABCB1, CYP2C8, ERCC2, and ERCC1 previously associated with ovarian cancer outcome were genotyped in 10,084 invasive cases from 28 studies from the Ovarian Cancer Association Consortium with over 37,000-observed person-years and 4,478 deaths. Cox proportional hazards models were used to examine the association between candidate SNPs and ovarian cancer recurrence or survival with and without adjustment for key covariates. Results: We observed no association between genotype and ovarian cancer recurrence or survival for any of the SNPs examined. Conclusions: These results refute prior associations between these SNPs and ovarian cancer outcome and underscore the importance of maximally powered genetic association studies. Impact: These variants should not be used in prognostic models. Alternate approaches to uncovering inherited prognostic factors, if they exist, are needed. Cancer Epidemiol Biomarkers Prev; 22(5); 987–. ©2013 AACR.