دورية أكاديمية
Fine-scale mapping of the FGFR2 breast cancer risk locus: Putative functional variants differentially bind FOXA1 and E2F1
| العنوان: | Fine-scale mapping of the FGFR2 breast cancer risk locus: Putative functional variants differentially bind FOXA1 and E2F1 |
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| المؤلفون: | Meyer, Kerstin B, O'Reilly, Martin, Michailidou, Kyriaki, Carlebur, Saskia, Edwards, Stacey L., French, Juliet D., Prathalingham, Radhika, Dennis, Joe, Bolla, Manjeet K., Wang, Qin, De Santiago, Ines, Hopper, John L., Tsimiklis, Helen, Apicella, Carmel, Southey, Melissa C., Schmidt, Marjanka K., Broeks, Annegien, Van 't Veer, Laura J., Hogervorst, Frans B., Muir, Kenneth, Lophatananon, Artitaya, Stewart Brown, Sarah, Siriwanarangsan, Pornthep, Fasching, Peter A., Lux, Michael P., Ekici, Arif B., Beckmann, Matthias W., Peto, Julian, Dos Santos Silva, Isabel, Fletcher, Olivia, Johnson, Nichola, Sawyer, Elinor J., Tomlinson, Ian, Kerin, Michael J., Miller, Nicola, Marme, Federick, Schneeweiss, Andreas, Sohn, Christof, Burwinkel, Barbara, Guénel, Pascal, Truong, Thérèse, Laurent Puig, Pierre, Menegaux, Florence, Bojesen, Stig E., Nordestgaard, Børge G., Nielsen, Sune F., Flyger, Henrik, Milne, Roger L., Zamora, M. Pilar, Arias, Jose I., Benitez, Javier, Neuhausen, Susan, Anton Culver, Hoda, Ziogas, Argyrios, Dur, Christina C., Brenner, Hermann, Müller, Heiko, Arndt, Volker, Stegmaier, Christa, Meindl, Alfons, Schmutzler, Rita K., Engel, Christoph, Ditsch, Nina, Brauch, Hiltrud, Brüning, Thomas, Ko, Yon Dschun, Nevanlinna, Heli, Muranen, Taru A., Aittomäki, Kristiina, Blomqvist, Carl, Matsuo, Keitaro, Ito, Hidemi, Iwata, Hiroji, Yatabe, Yasushi, Dörk, Thilo, Helbig, Sonja, Bogdanova, Natalia V., Lindblom, Annika, Margolin, Sara, Mannermaa, Arto, Kataja, Vesa, Kosma, Veli Matti, Hartikainen, Jaana M., Chenevix Trench, Georgia, Wu, Anna H., Tseng, Chiu C., Van Den Berg, David, Stram, Daniel O., Lambrechts, Diether, Thienpont, Bernard, Christiaens, Marie Rose, Smeets, Ann, Chang Claude, Jenny, Rudolph, Anja, Seibold, Petra, Flesch Janys, Dieter, Radice, Paolo, Peterlongo, Paolo, Bonanni, Bernardo, Bernard, Loris, Couch, Fergus J., Olson, Janet E., Wang, Xianshu, Purrington, Kristen, Giles, Graham G., Severi, Gianluca, Mclean, Catriona, Haiman, Christopher A., Henderson, Brian E., Schumacher, Fredrick, Le Marchand, Loic, Simard, Jacques, Goldberg, Mark S., Labrèche, France, Dumont, Martine, Teo, Soo Hwang, Yip, Cheng Har, Phuah, Sze Yee, Kristensen, Vessela, Grenaker Alnæs, Grethe, Børresen Dale, Anne Lise, Zheng, Wei, Deming Halverson, Sandra, Shrubsole, Martha, 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 M., García Closas, Montserrat, Figueroa, Jonine, Chanock, Stephen J., Lissowska, Jolanta, Czene, Kamila, Darabi, Hartef, Eriksson, Kimael, Hooning, Maartje J., Martens, John W. M., Van Den Ouweland, Ans M. W., Van Deurzen, Carolien H. M., Hall, Per, Li, Jingmei, Liu, Jianjun, Humphreys, Keith, Shu, Xiao Ou, Lu, Wei, Gao, Yu Tang, Cai, Hui, Cox, Angela, Reed, Malcolm W. R., Blot, William, Signorello, Lisa B., Cai, Qiuyin, Pharoah, Paul D. P., Ghoussaini, Maya, Harrington, Patricia, Tyrer, Jonathan, Kang, Daehee, Choi, Ji Yeob, Park, Sue K., Noh, Dong Young, Hartman, Mikael, Hui, Miao, Lim, Wei Yen, Buhari, Shaik A., Hamann, Ute, Försti, Asta, Rüdiger, Thomas, Ulmer, Hans Ulrich, Jakubowska, Anna, Lubinski, Jan, Jaworska, Katarzyna, Durda, Katarzyna, Sangrajrang, Suleeporn, Gaborieau, Valerie, Brennan, Paul, Mckay, James, Vachon, Celine, Slager, Susan, Fostira, Florentia, Pilarski, Robert, Shen, Chen Yang, Hsiung, Chia Ni, Wu, Pei Ei, Hou, Ming Feng, Swerdlow, Anthony, Ashworth, Alan, Orr, Nick, Schoemaker, Minouk J., Ponder, Bruce A. J., Dunning, Alison M., Easton, Douglas F., BAGLIETTO, LAURA |
| المساهمون: | Meyer, Kerstin B, O'Reilly, Martin, Michailidou, Kyriaki, Carlebur, Saskia, Edwards, Stacey L., French, Juliet D., Prathalingham, Radhika, Dennis, Joe, Bolla, Manjeet K., Wang, Qin, De Santiago, Ine, Hopper, John L., Tsimiklis, Helen, Apicella, Carmel, Southey, Melissa C., Schmidt, Marjanka K., Broeks, Annegien, Van 't Veer, Laura J., Hogervorst, Frans B., Muir, Kenneth, Lophatananon, Artitaya, Stewart Brown, Sarah, Siriwanarangsan, Pornthep, Fasching, Peter A., Lux, Michael P., Ekici, Arif B., Beckmann, Matthias W., Peto, Julian, Dos Santos Silva, Isabel, Fletcher, Olivia, Johnson, Nichola, Sawyer, Elinor J., Tomlinson, Ian, Kerin, Michael J., Miller, Nicola, Marme, Federick, Schneeweiss, Andrea, Sohn, Christof, Burwinkel, Barbara, Guénel, Pascal, Truong, Thérèse, Laurent Puig, Pierre, Menegaux, Florence, Bojesen, Stig E., Nordestgaard, Børge G., Nielsen, Sune F., Flyger, Henrik, Milne, Roger L., Zamora, M. Pilar, Arias, Jose I., Benitez, Javier, Neuhausen, Susan, Anton Culver, Hoda, Ziogas, Argyrio, Dur, Christina C., Brenner, Hermann, Müller, Heiko, Arndt, Volker, Stegmaier, Christa, Meindl, Alfon, Schmutzler, Rita K., Engel, Christoph, Ditsch, Nina, Brauch, Hiltrud, Brüning, Thoma, Ko, Yon Dschun, Nevanlinna, Heli, Muranen, Taru A., Aittomäki, Kristiina, Blomqvist, Carl, Matsuo, Keitaro, Ito, Hidemi, Iwata, Hiroji, Yatabe, Yasushi, Dörk, Thilo, Helbig, Sonja, Bogdanova, Natalia V., Lindblom, Annika, Margolin, Sara, Mannermaa, Arto, Kataja, Vesa, Kosma, Veli Matti, Hartikainen, Jaana M., Chenevix Trench, Georgia, Wu, Anna H., Tseng, Chiu C., Van Den Berg, David, Stram, Daniel O., Lambrechts, Diether, Thienpont, Bernard, Christiaens, Marie Rose, Smeets, Ann, Chang Claude, Jenny, Rudolph, Anja, Seibold, Petra, Flesch Janys, Dieter, Radice, Paolo, Peterlongo, Paolo, Bonanni, Bernardo, Bernard, Lori |
| سنة النشر: | 2013 |
| المجموعة: | ARPI - Archivio della Ricerca dell'Università di Pisa |
| مصطلحات موضوعية: | African Continental Ancestry Group, Allele, Asian Continental Ancestry Group, Binding Site, Breast Neoplasm, Case-Control Studie, Cell Line, Tumor, Chromatin Immunoprecipitation, E2F1 Transcription Factor, European Continental Ancestry Group, Female, Gene Expression Regulation, Neoplastic, Genetic Association Studie, Haplotype, Hepatocyte Nuclear Factor 3-alpha, Human, Position-Specific Scoring Matrice, Promoter Regions, Genetic, Protein Binding, RNA Interference, Receptor, Fibroblast Growth Factor, Type 2, Chromosome Mapping, Genetic Loci, Genetics (clinical) |
| الوصف: | The 10q26 locus in the second intron of FGFR2 is the locus most strongly associated with estrogen-receptor-positive breast cancer in genome-wide association studies. We conducted fine-scale mapping in case-control studies genotyped with a custom chip (iCOGS), comprising 41 studies (n = 89,050) of European ancestry, 9 Asian ancestry studies (n = 13,983), and 2 African ancestry studies (n = 2,028) from the Breast Cancer Association Consortium. We identified three statistically independent risk signals within the locus. Within risk signals 1 and 3, genetic analysis identified five and two variants, respectively, highly correlated with the most strongly associated SNPs. By using a combination of genetic fine mapping, data on DNase hypersensitivity, and electrophoretic mobility shift assays to study protein-DNA binding, we identified rs35054928, rs2981578, and rs45631563 as putative functional SNPs. Chromatin immunoprecipitation showed that FOXA1 preferentially bound to the risk-associated allele (C) of rs2981578 and was able to recruit ERα to this site in an allele-specific manner, whereas E2F1 preferentially bound the risk variant of rs35054928. The risk alleles were preferentially found in open chromatin and bound by Ser5 phosphorylated RNA polymerase II, suggesting that the risk alleles are associated with changes in transcription. Chromatin conformation capture demonstrated that the risk region was able to interact with the promoter of FGFR2, the likely target gene of this risk region. A role for FOXA1 in mediating breast cancer susceptibility at this locus is consistent with the finding that the FGFR2 risk locus primarily predisposes to estrogen-receptor-positive disease. © 2013 The American Society of Human Genetics. |
| نوع الوثيقة: | article in journal/newspaper |
| اللغة: | English |
| العلاقة: | info:eu-repo/semantics/altIdentifier/pmid/24290378; volume:93; issue:6; firstpage:1046; lastpage:1060; numberofpages:15; journal:AMERICAN JOURNAL OF HUMAN GENETICS; http://hdl.handle.net/11568/817794Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-84890310753 |
| DOI: | 10.1016/j.ajhg.2013.10.026 |
| الإتاحة: | https://doi.org/10.1016/j.ajhg.2013.10.026Test http://hdl.handle.net/11568/817794Test |
| رقم الانضمام: | edsbas.B8020CA4 |
| قاعدة البيانات: | BASE |
| DOI: | 10.1016/j.ajhg.2013.10.026 |
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