Breast cancer risk variants at 6q25 display different phenotype associations and regulate ESR1, RMND1 and CCDC170

• Type: Article in International Scientific Journal
• Date: 2016

Authors

Dunning, AM (Author) Other; Michailidou, K (Author) Other; Kuchenbaecker, KB (Author) Other; Thompson, D (Author) Other; French, JD (Author) Other; Beesley, J (Author) Other; Healey, CS (Author) Other; Kar, S (Author) Other; Pooley, KA (Author) Other; Lopez Knowles, E (Author) Other; Dicks, E (Author) Other; Barrowdale, D (Author) Other; Sinnott Armstrong, NA (Author) Other; Sallari, RC (Author) Other; Hillman, KM (Author) Other; Kaufmann, S (Author) Other; Sivakumaran, H (Author) Other; Marjaneh, MM (Author) Other; Lee, JS (Author) Other; Hills, M (Author) Other; Jarosz, M (Author) Other; Drury, S (Author) Other; Canisius, S (Author) Other; Bolla, MK (Author) Other; Dennis, J (Author) Other; Wang, Q (Author) Other; Hopper, JL (Author) Other; Southey, MC (Author) Other; Broeks, A (Author) Other; Schmidt, MK (Author) Other; Lophatananon, A (Author) Other; Muir, K (Author) Other; Beckmann, MW (Author) Other; Fasching, PA (Author) Other; dos Santos Silva, I (Author) Other; Peto, J (Author) Other; Sawyer, EJ (Author) Other; Tomlinson, I (Author) Other; Burwinkel, B (Author) Other; Marme, F (Author) Other; Guenel, P (Author) Other; Truong, T (Author) Other; Bojesen, SE (Author) Other; Flyger, H (Author) Other; Gonzalez Neira, A (Author) Other; Perez, JIA (Author) Other; Anton Culver, H (Author) Other; Eunjung, L (Author) Other; Arndt, V (Author) Other; Brenner, H (Author) Other; Meindl, A (Author) Other; Schmutzler, RK (Author) Other; Brauch, H (Author) Other; Hamann, U (Author) Other; Aittomaki, K (Author) Other; Blomqvist, C (Author) Other; Ito, H (Author) Other; Matsuo, K (Author) Other; Bogdanova, N (Author) Other; Dork, T (Author) Other; Lindblom, A (Author) Other; Margolin, S (Author) Other; Kosma, VM (Author) Other; Mannermaa, A (Author) Other; Tseng, CC (Author) Other; Wu, AH (Author) Other; Lambrechts, D (Author) Other; Wildiers, H (Author) Other; Chang Claude, J (Author) Other; Rudolph, A (Author) Other; Peterlongo, P (Author) Other; Radice, P (Author) Other; Olson, JE (Author) Other; Giles, GG (Author) Other; Milne, RL (Author) Other; Haiman, CA (Author) Other; Henderson, BE (Author) Other; Goldberg, MS (Author) Other; Teo, SH (Author) Other; Yip, CH (Author) Other; Nord, S (Author) Other; Borresen Dale, AL (Author) Other; Kristensen, V (Author) Other; Long, J (Author) Other; Zheng, W (Author) Other; Pylkas, K (Author) Other; Winqvist, R (Author) Other; Andrulis, IL (Author) Other; Knight, JA (Author) Other; Devilee, P (Author) Other; Seynaeve, C (Author) Other; Figueroa, J (Author) Other; Sherman, ME (Author) Other; Czene, K (Author) Other; Darabi, H (Author) Other; Hollestelle, A (Author) Other; van den Ouweland, AMW (Author) Other; Humphreys, K (Author) Other; Gao, YT (Author) Other; Shu, XO (Author) Other; Cox, A (Author) Other; Cross, SS (Author) Other; Blot, W (Author) Other; Cai, Q (Author) Other; Ghoussaini, M (Author) Other; Perkins, BJ (Author) Other; Shah, M (Author) Other; Choi, JY (Author) Other; Kang, D (Author) Other; Lee, SC (Author) Other; Hartman, M (Author) Other; Kabisch, M (Author) Other; Torres, D (Author) Other; Jakubowska, A (Author) Other; Lubinski, J (Author) Other; Brennan, P (Author) Other; Sangrajrang, S (Author) Other; Ambrosone, CB (Author) Other; Toland, AE (Author) Other; Shen, CY (Author) Other; Wu, PE (Author) Other; Orr, N (Author) Other; Swerdlow, A (Author) Other; McGuffog, L (Author) Other; Healey, S (Author) Other; Lee, A (Author) Other; Kapuscinski, M (Author) Other; John, EM (Author) Other; Terry, MB (Author) Other; Daly, MB (Author) Other; Goldgar, DE (Author) Other; Buys, SS (Author) Other; Janavicius, R (Author) Other; Tihomirova, L (Author) Other; Tung, N (Author) Other; Dorfling, CM (Author) Other; van Rensburg, EJ (Author) Other; Neuhausen, SL (Author) Other; Ejlertsen, B (Author) Other; Hansen, TVO (Author) Other; Osorio, A (Author) Other; Benitez, J (Author) Other; Rando, R (Author) Other; Weitzel, JN (Author) Other; Bonanni, B (Author) Other; Peissel, B (Author) Other; Manoukian, S (Author) Other; Papi, L (Author) Other; Ottini, L (Author) Other; Konstantopoulou, I (Author) Other; Apostolou, P (Author) Other; Garber, J (Author) Other; Rashid, MU (Author) Other; Frost, D (Author) Other; Izatt, L (Author) Other; Ellis, S (Author) Other; Godwin, AK (Author) Other; Arnold, N (Author) Other; Niederacher, D (Author) Other; Rhiem, K (Author) Other; Bogdanova Markov, N (Author) Other; Sagne, C (Author) Other; Stoppa Lyonnet, D (Author) Other; Damiola, F (Author) Other; Sinilnikova, OM (Author) Other; Mazoyer, S (Author) Other; Isaacs, C (Author) Other; Claes, KBM (Author) Other; De Leeneer, K (Author) Other; De la Hoya, M (Author) Other; Caldes, T (Author) Other; Nevanlinna, H (Author) Other; Khan, S (Author) Other; Mensenkamp, AR (Author) Other; Hooning, MJ (Author) Other; Rookus, MA (Author) Other; Kwong, A (Author) Other; Olah, E (Author) Other; Diez, O (Author) Other; Brunet, J (Author) Other; Pujana, MA (Author) Other; Gronwald, J (Author) Other; Huzarski, T (Author) Other; Barkardottir, RB (Author) Other; Laframboise, R (Author) Other; Soucy, P (Author) Other; Montagna, M (Author) Other; Agata, S (Author) Other; Manuel R Teixeira (Author) ICBAS; Park, SK (Author) Other; Lindor, N (Author) Other; Couch, FJ (Author) Other; Tischkowitz, M (Author) Other; Foretova, L (Author) Other; Vijai, J (Author) Other; Offit, K (Author) Other; Singer, CF (Author) Other; Rappaport, C (Author) Other; Phelan, CM (Author) Other; Greene, MH (Author) Other; Mai, PL (Author) Other; Rennert, G (Author) Other; Imyanitov, EN (Author) Other; Hulick, PJ (Author) Other; Phillips, KA (Author) Other; Piedmonte, M (Author) Other; Mulligan, AM (Author) Other; Glendon, G (Author) Other; Bojesen, A (Author) Other; Thomassen, M (Author) Other; Caligo, MA (Author) Other; Yoon, SY (Author) Other; Friedman, E (Author) Other; Laitman, Y (Author) Other; Borg, A (Author) Other; Von Wachenfeldt, A (Author) Other; Ehrencrona, H (Author) Other; Rantala, J (Author) Other; Olopade, OI (Author) Other; Ganz, PA (Author) Other; Nussbaum, RL (Author) Other; Gayther, SA (Author) Other; Nathanson, KL (Author) Other; Domchek, SM (Author) Other; Arun, BK (Author) Other; Mitchell, G (Author) Other; Karlan, BY (Author) Other; Lester, J (Author) Other; Maskarinec, G (Author) Other; Woolcott, C (Author) Other; Scott, C (Author) Other; Stone, J (Author) Other; Apicella, C (Author) Other; Tamimi, R (Author) Other; Luben, R (Author) Other; Khaw, KT (Author) Other; Helland, A (Author) Other; Haakensen, V (Author) Other; Dowsett, M (Author) Other; Pharoah, PDP (Author) Other; Simard, J (Author) Other; Hall, P (Author) Other; Garcia Closas, M (Author) Other; Vachon, C (Author) Other; Chenevix Trench, G (Author) Other; Antoniou, AC (Author) Other; Easton, DF (Author) Other; Edwards, SL (Author) Other

Journal

Title: Nature Genetics

Vol. 48

Pages: 374-+

ISSN: 1061-4036

Publisher: Springer Nature

Indexing

ISI Web of Knowledge - 84 Citations

Scopus - 91 Citations

Other information

Authenticus ID: P-00K-BX4

DOI: 10.1038/ng.3521

Abstract (EN): We analyzed 3,872 common genetic variants across the ESR1 locus (encoding estrogen receptor a) 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.

Language: English

Type (Professor's evaluation): Scientific

No. of pages: 16