التفاصيل البيبلوغرافية
| العنوان: |
Breast cancer risk variants at 6q25 display different phenotype associations and regulate ESR1, RMND1 and CCDC170. |
| المؤلفون: |
Dunning, AM, Michailidou, K, Kuchenbaecker, KB, Thompson, D, French, JD, Beesley, J, Healey, CS, Kar, S, Pooley, KA, Lopez-Knowles, E, Dicks, E, Barrowdale, D, Sinnott-Armstrong, NA, Sallari, RC, Hillman, KM, Kaufmann, S, Sivakumaran, H, Moradi Marjaneh, M, Lee, JS, Hills, M, Jarosz, M, Drury, S, Canisius, S, Bolla, MK, Dennis, J, Wang, Q, Hopper, JL, Southey, MC, Broeks, A, Schmidt, MK, Lophatananon, A, Muir, K, Beckmann, MW, Fasching, PA, Dos-Santos-Silva, I, Peto, J, Sawyer, EJ, Tomlinson, I, Burwinkel, B, Marme, F, Guénel, P, Truong, T, Bojesen, SE, Flyger, H, González-Neira, A, Perez, JIA, Anton-Culver, H, Eunjung, L, Arndt, V, Brenner, H, Meindl, A, Schmutzler, RK, Brauch, H, Hamann, U, Aittomäki, K, Blomqvist, C, Ito, H, Matsuo, K, Bogdanova, N, Dörk, T, Lindblom, A, Margolin, S, Kosma, V-M, Mannermaa, A, Tseng, C-C, Wu, AH, Lambrechts, D, Wildiers, H, Chang-Claude, J, Rudolph, A, Peterlongo, P, Radice, P, Olson, JE, Giles, GG, Milne, RL, Haiman, CA, Henderson, BE, Goldberg, MS, Teo, SH, Yip, CH, Nord, S, Borresen-Dale, A-L, Kristensen, V, Long, J, Zheng, W, Pylkäs, K, Winqvist, R, Andrulis, IL, Knight, JA, Devilee, P, Seynaeve, C, Figueroa, J, Sherman, ME, Czene, K, Darabi, H, Hollestelle, A, van den Ouweland, AMW, Humphreys, K, Gao, Y-T, Shu, X-O, Cox, A, Cross, SS, Blot, W, Cai, Q, Ghoussaini, M, Perkins, BJ, Shah, M, Choi, J-Y, Kang, D, Lee, SC, Hartman, M, Kabisch, M, Torres, D, Jakubowska, A, Lubinski, J, Brennan, P, Sangrajrang, S, Ambrosone, CB, Toland, AE, Shen, C-Y, Wu, P-E, Orr, N, Swerdlow, A, McGuffog, L, Healey, S, Lee, A, Kapuscinski, M, John, EM, Terry, MB, Daly, MB, Goldgar, DE, Buys, SS, Janavicius, R, Tihomirova, L, Tung, N, Dorfling, CM, van Rensburg, EJ, Neuhausen, SL, Ejlertsen, B, Hansen, TVO, Osorio, A, Benitez, J, Rando, R, Weitzel, JN, Bonanni, B, Peissel, B, Manoukian, S, Papi, L, Ottini, L, Konstantopoulou, I, Apostolou, P, Garber, J, Rashid, MU, Frost, D, EMBRACE, Izatt, L, Ellis, S, Godwin, AK, Arnold, N, Niederacher, D, Rhiem, K, Bogdanova-Markov, N, Sagne, C, Stoppa-Lyonnet, D, Damiola, F, GEMO Study Collaborators, Sinilnikova, OM, Mazoyer, S, Isaacs, C, Claes, KBM, De Leeneer, K, de la Hoya, M, Caldes, T, Nevanlinna, H, Khan, S, Mensenkamp, AR, HEBON, Hooning, MJ, Rookus, MA, Kwong, A, Olah, E, Diez, O, Brunet, J, Pujana, MA, Gronwald, J, Huzarski, T, Barkardottir, RB, Laframboise, R, Soucy, P, Montagna, M, Agata, S, Teixeira, MR, kConFab Investigators, Park, SK, Lindor, N, Couch, FJ, Tischkowitz, M, Foretova, L, Vijai, J, Offit, K, Singer, CF, Rappaport, C, Phelan, CM, Greene, MH, Mai, PL, Rennert, G, Imyanitov, EN, Hulick, PJ, Phillips, K-A, Piedmonte, M, Mulligan, AM, Glendon, G, Bojesen, A, Thomassen, M, Caligo, MA, Yoon, S-Y, Friedman, E, Laitman, Y, Borg, A, von Wachenfeldt, A, Ehrencrona, H, Rantala, J, Olopade, OI, Ganz, PA, Nussbaum, RL, Gayther, SA, Nathanson, KL, Domchek, SM, Arun, BK, Mitchell, G, Karlan, BY, Lester, J, Maskarinec, G, Woolcott, C, Scott, C, Stone, J, Apicella, C, Tamimi, R, Luben, R, Khaw, K-T, Helland, Å, Haakensen, V, Dowsett, M, Pharoah, PDP, Simard, J, Hall, P, García-Closas, M, Vachon, C, Chenevix-Trench, G, Antoniou, AC, Easton, DF, Edwards, SL |
| المساهمون: |
Lopez Knowles, Elena, Swerdlow, Anthony |
| بيانات النشر: |
NATURE PUBLISHING GROUP |
| سنة النشر: |
2019 |
| المجموعة: |
The Institute of Cancer Research (ICR): Publications Repository |
| مصطلحات موضوعية: |
EMBRACE, GEMO Study Collaborators, HEBON, kConFab Investigators, Chromosomes, Human, Pair 6, Humans, Breast Neoplasms, Genetic Predisposition to Disease, Carrier Proteins, Cell Cycle Proteins, Estrogen Receptor alpha, Risk Factors, Gene Expression, Gene Expression Regulation, Neoplastic, Base Sequence, Protein Binding, Phenotype, Polymorphism, Single Nucleotide, Female, Genetic Association Studies |
| الوصف: |
We analyzed 3,872 common genetic variants across the ESR1 locus (encoding estrogen receptor α) in 118,816 subjects from three international consortia. We found evidence for at least five independent causal variants, each associated with different phenotype sets, including estrogen receptor (ER(+) or ER(-)) and human ERBB2 (HER2(+) or HER2(-)) tumor subtypes, mammographic density and tumor grade. The best candidate causal variants for ER(-) tumors lie in four separate enhancer elements, and their risk alleles reduce expression of ESR1, RMND1 and CCDC170, whereas the risk alleles of the strongest candidates for the remaining independent causal variant disrupt a silencer element and putatively increase ESR1 and RMND1 expression. |
| نوع الوثيقة: |
article in journal/newspaper |
| وصف الملف: |
Print-Electronic; 386; application/pdf |
| اللغة: |
English |
| تدمد: |
1061-4036
1546-1718 |
| العلاقة: |
Nature genetics, 2016, 48 (4), pp. 374 - 386; https://repository.icr.ac.uk/handle/internal/3285Test |
| DOI: |
10.1038/ng.3521 |
| الإتاحة: |
https://doi.org/10.1038/ng.3521Test
https://repository.icr.ac.uk/handle/internal/3285Test |
| حقوق: |
https://www.rioxx.net/licenses/all-rights-reservedTest |
| رقم الانضمام: |
edsbas.A57A3B0A |
| قاعدة البيانات: |
BASE |
