Citations 2
Gene-Environment Interactions Relevant to Estrogen and Risk of Breast Cancer: Can Gene-Environment Interactions Be Detected Only among Candidate SNPs from Genome-Wide Association Studies?
Park, JooYong , Choi, Ji‐Yeob , Chung, Seokang , Song, Nan , Park, Sue K. , Han, Wonshik , Noh, Dong‐Young , Ahn, Sei-Hyun, Lee, Jong Won, Kim, Mi Kyung , Jee, Sun Ha , Wen, Wanqing , Bolla, Manjeet K. , Wang, Qin , Michailidou, Kyriaki , Shah, Mitul , Conroy, Don, Harrington, Patricia, Mayes, Rebecca , Hall, Per , Patel, Alpa V. , Couch, Fergus J. , Sawyer, Elinor J. , Roylance, Rebecca , Bojesen, Stig E. , Flyger, Henrik, Lambrechts, Diether , Baten, Adinda , Matsuo, Keitaro , Ito, Hidemi , Guénel, Pascal , Keeman, Renske , Schmidt, Marjanka K. , Wu, Anna H. , Tseng, Chiu-Chen, Cox, Angela , Investigators, kConFab, Andrulis, Irene L. , Hopper, John L., Wu, Pei‐Ei , Shen, Chen‐Yang , Fasching, Peter A. , Ekici, Arif B. , Muir, Kenneth, Brenner, Hermann , Arndt, Volker , Jones, Michael E. , Swerdlow, Anthony J, Hoppe, Reiner , Ko, Yon-Dschun, Hartman, Mikael , Li, Jingmei , Mannermaa, Arto, Hartikainen, Jaana M. , Benítez, Javier, Haiman, Christopher A. , Dörk, Thilo , Bogdanova, Natalia , Teo, Soo‐Hwang , Taib, Nur Aishah Mohd , Fletcher, Olivia, Johnson, Nichola , Grip, Mervi, Winqvist, Robert , Nevanlinna, Heli , Lindblom, Annika , Wendt, Camilla, Kristensen, Vessela N. , Collaborators, NBCS, Tollenaar, Rob A.�E.�M. , Heemskerk‐Gerritsen, Bernadette A. M. , Bonanni, Bernardo , Hamann, Ute, Manoochehri, Mehdi, Martinez, Maria Elena, Easton, Douglas F., Yoo, Keun-Young, Lambrechts, Diether , Song, Nan , Park, Sue K , Kim, Mi Kyung , Dennis, Joe , Michailidou, Kyriaki , Hall, Per N , Matsuo, Keitaro , Ito, Hidemi , Keeman, Renske , Schmidt, Marjanka K , Fasching, Peter A , Brenner, Hermann , Arndt, Volker , Hartikainen, Jaana M , Dörk, Thilo , Bogdanova, Natalia V , Johnson, Nichola , Nevanlinna, H , Heemskerk-Gerritsen, Bernadette A M , Bonanni, Bernardo , Lambrechts, Diether , Teo, Soo H , Jones, Michael E , Lambrechts, Diether , Cox, Angela , Guénel, Pascal , Hartman, Mikael , Li, Jingmei , Ekici, Arif B , Bojesen, Stig E , Lindblom, Annika , Mohd Taib, Nur Aishah , Sawyer, Elinor J , Choi, Jaesung , Czene, Kamila , Teras, Lauren R. , Couch, Fergus J. , Olson, Janet E. , Truong, Thérèse , Cross, Simon S. , Investigators, kConFab, Southey, Melissa C. , Lophatananon, Artitaya , Ko, Yon‐Dschun, Mannermaa, Arto , González‐Neira, Anna , Fletcher, Olivia , Blomqvist, Carl , Wendt, Camilla, Collaborators, NBCS, Radice, Paolo , Manoochehri, Mehdi, Lacey, James V. , Dunning, Alison M. , Pharoah, Paul D.P. , Kang, Daehee
Cancers | May 14, 2021 | Volume: 13 | Issue: 10 | Pages: 2370
In this study we aim to examine gene–environment interactions (GxEs) between genes involved with estrogen metabolism and environmental factors related to estrogen exposure. GxE analyses were conducted with 1970 Korean breast cancer cases and 2052 controls in the case-control study, the Seoul Breast Cancer Study (SEBCS). A total of 11,555 SNPs from the 137 candidate genes were included in the GxE analyses with eight established environmental factors. A replication test was conducted by using an independent population from the Breast Cancer Association Consortium (BCAC), with 62,485 Europeans and 9047 Asians. The GxE tests were performed by using two-step methods in GxEScan software. Two interactions were found in the SEBCS. The first interaction was shown between rs13035764 of NCOA1 and age at menarche in the GE|2df model (p-2df = 1.2 × 10−3). The age at menarche before 14 years old was associated with the high risk of breast cancer, and the risk was higher when subjects had homozygous minor allele G. The second GxE was shown between rs851998 near ESR1 and height in the GE|2df model (p-2df = 1.1 × 10−4). Height taller than 160 cm was associated with a high risk of breast cancer, and the risk increased when the minor allele was added. The findings were not replicated in the BCAC. These results would suggest specificity in Koreans for breast cancer risk.
Fine-Scale Mapping of the 4q24 Locus Identifies Two Independent Loci Associated with Breast Cancer Risk
Long, Jirong , Zeng, Chenjie , Michailidou, Kyriaki , Ghoussaini, Maya , Bolla, Manjeet K. , Wang, Qin, Shu, Xiao-Ou, Beesley, Jonathan, Kar, Siddhartha , Andrulis, Irene L. , Beckmann, Matthias W. , Beeghly‐Fadiel, Alicia, Benı́tez, Javier , Blot, William J. , Bogdanova, Natalia , Bojesen, Stig E. , Brauch, Hiltrud , Brenner, Hermann , Brinton, Louise A. , Brüning, Thomas , Burwinkel, Barbara , Cai, Hui , Canisius, Sander , Chang‐Claude, Jenny , Choi, Ji‐Yeob , Couch, Fergus J. , Cox, Angela , Cross, Simon S. , Darabi, Hatef, Devilee, Peter , Droit, Arnaud , Dörk, Thilo , Fasching, Peter A. , Fletcher, Olivia , Flyger, Henrik, Fostira, Florentia, Gaborieau, Valérie , García‐Closas, Montserrat , Giles, Graham G. , Grip, Mervi, Guénel, Pascal , Haiman, Christopher A., Hamann, Ute , Hartman, Mikael , Hollestelle, Antoinette , Hopper, John L. , Hsiung, Chia-Ni, Jakubowska, Anna , Johnson, Nichola , Kabisch, Maria, Kang, Daehee , Khan, Sofia , Knight, Julia A. , Kosma, Veli-Matti, Lambrechts, Diether , Li, Jingmei , Lindblom, Annika , Lubiński, Jan , Mannermaa, Arto, Manoukian, Siranoush , Margolin, Sara , Matsuo, Keitaro , McLean, Catriona , Meindl, Alfons , Muir, Kenneth , Orr, Nick , Peterlongo, Paolo , Putti, Thomas Choudary , Sangrajrang, Suleeporn , Sawyer, Elinor J. , Schmidt, Marjanka K. , Schmutzler, Rita K., Shrubsole, Martha J. , Southey, Melissa C. , Swerdlow, Anthony J. , Teo, Soo‐Hwang , Thienpont, Bernard , Tollenaar, Robert A.E.M., Tomlinson, Ian , Truong, Thérèse , Tseng, Chiu-Chen, Ouweland, Ans van den, Wen, Wanqing , Winqvist, Robert , Wu, Anna H. , Yip, Cheng Har , Zamora, M. Pilar , Zheng, Ying , Simard, Jacques , Chenevix‐Trench, Georgia , Investigators, on behalf of kConFab, Dunning, Alison M. , Easton, Douglas F. , Zheng, Wei , Wang, Sophia , Radice, Paolo , Webb, Penelope M. , Whiteman, David C. , Pepłońska, Beata , Durocher, Francine , Heikkinen, Tuomas , Balasubramanian, Sabapathy P. , DeFazio, Anna , Peissel, Bernard , Zaffaroni, Daniela , Hillemanns, Peter , Kerin, Michael J. , Pylkäs, Katri , Thorne, Heather , Cai, Hui , Laurent‐Puig, Pierre , Lambrechts, Diether , Taib, Nur Aishah Mohd , Colleran, Gabrielle , Fazio, Anna de , Guo, Xingyi , Wang, Qin, Milne, Roger L. , Cai, Qiuyin , Anton‐Culver, Hoda , Arndt, Volker , Beeghly‐Fadiel, Alicia , Broeks, Annegien , Couch, Fergus J. , Czene, Kamila , Ito, Hidemi , Marchand, Loı̈c Le , Lophatananon, Artitaya , Mannermaa, Arto, Marmé, Frederik , Meindl, Alfons , Neuhausen, Susan L. , Nevanlinna, Heli , Nord, Silje , Olson, Janet E. , Rudolph, Anja , Shen, Chen‐Yang , Shi, Jiajun , Toland, Amanda Ewart , Hall, Per N , Pharoah, Paul D.P. , Investigators, on behalf of kConFab, Dörk, Thilo , Lambrechts, Diether , Giles, Graham G , Peterlongo, Paolo , Teo, Soo H , Webb, Penelope M , Hillemanns, Peter , Shrubsole, Martha J , Swerdlow, Anthony J , Radice, Paolo , Southey, Melissa C , Muir, Kenneth , Matsuo, Keitaro , Dunning, Alison M , Jakubowska, Anna , Lambrechts, Diether , Brenner, Hermann , Cox, Angela , Guénel, Pascal , Hartman, Mikael , Li, Jingmei , García-Closas, Montserrat , Schmidt, Marjanka K , Michailidou, Kyriaki , Bogdanova, Natalia V , Benitez, Javier , Simard, Jacques , Chenevix-Trench, Georgia , Zheng, Wei , Wang, Sophia S , Whiteman, David C , Kar, Siddhartha , Pylkäs, Katri , Laurent-Puig, Pierre , Devilee, Peter , Manoukian, Siranoush , Lubinski, Jan , Fletcher, Olivia , Bojesen, Stig E , Truong, Therese , Mclean, Catriona , Brauch, Hiltrud , Lindblom, Annika , Mohd Taib, Nur Aishah , Sawyer, Elinor J , Orr, Nick , Kang, Daehee , Droit, Arnaud
Cancer Epidemiology, Biomarkers & Prevention | September 10, 2015 | Volume: 24 | Issue: 11 | Pages: 1680-1691
Abstract Background: A recent association study identified a common variant (rs9790517) at 4q24 to be associated with breast cancer risk. Independent association signals and potential functional variants in this locus have not been explored. Methods: We conducted a fine-mapping analysis in 55,540 breast cancer cases and 51,168 controls from the Breast Cancer Association Consortium. Results: Conditional analyses identified two independent association signals among women of European ancestry, represented by rs9790517 [conditional P = 2.51 × 10−4; OR, 1.04; 95% confidence interval (CI), 1.02–1.07] and rs77928427 (P = 1.86 × 10−4; OR, 1.04; 95% CI, 1.02–1.07). Functional annotation using data from the Encyclopedia of DNA Elements (ENCODE) project revealed two putative functional variants, rs62331150 and rs73838678 in linkage disequilibrium (LD) with rs9790517 (r2 ≥ 0.90) residing in the active promoter or enhancer, respectively, of the nearest gene, TET2. Both variants are located in DNase I hypersensitivity and transcription factor–binding sites. Using data from both The Cancer Genome Atlas (TCGA) and Molecular Taxonomy of Breast Cancer International Consortium (METABRIC), we showed that rs62331150 was associated with level of expression of TET2 in breast normal and tumor tissue. Conclusion: Our study identified two independent association signals at 4q24 in relation to breast cancer risk and suggested that observed association in this locus may be mediated through the regulation of TET2. Impact: Fine-mapping study with large sample size warranted for identification of independent loci for breast cancer risk. Cancer Epidemiol Biomarkers Prev; 24(11); 1680–91. ©2015 AACR.