Functional annotation of the 2q35 breast cancer risk locus implicates a structural variant in influencing activity of a long-range enhancer element

• Main Authors: Baxter, JS, Johnson, N, Tomczyk, K, Gillespie, A, Maguire, S, Brough, R, Fachal, L, Michailidou, K, Bolla, MK, Wang, Q, Dennis, J, Ahearn, TU, Andrulis, IL, Anton-Culver, H, Antonenkova, NN, Arndt, V, Aronson, KJ, Augustinsson, A, Becher, H, Beckmann, MW, Behrens, S, Benitez, J, Bermisheva, M, Bogdanova, NV, Bojesen, SE, Brenner, H, Brucker, SY, Cai, Q, Campa, D, Canzian, F, Castelao, JE, Chan, TL, Chang-Claude, J, Chanock, SJ, Chenevix-Trench, G, Choi, JY, Clarke, CL, Colonna, S, Conroy, DM, Couch, FJ, Cox, A, Cross, SS, Czene, K, Daly, MB, Devilee, P, Dörk, T, Dossus, L, Dwek, M, Eccles, DM, Ekici, AB, Eliassen, AH, Engel, C, Fasching, PA, Figueroa, J, Flyger, H, Gago-Dominguez, M, Gao, C, García-Closas, M, García-Sáenz, JA, Ghoussaini, M, Giles, GG, Goldberg, MS, González-Neira, A, Guénel, P, Gündert, M, Haeberle, L, Hahnen, E, Haiman, CA, Hall, P, Hamann, U, Hartman, M, Hatse, S, Hauke, J, Hollestelle, A, Hoppe, R, Hopper, JL, Hou, MF, Ito, H, Iwasaki, M, Jager, A, Jakubowska, A, Janni, W, John, EM, Joseph, V, Jung, A, Kaaks, R, Kang, D, Keeman, R, Khusnutdinova, E, Kim, SW, Kosma, VM, Kraft, P, Kristensen, VN, Kubelka-Sabit, K, Kurian, AW, Kwong, A, Lacey, JV, Lambrechts, D, Larson, NL, Larsson, SC
• Other Authors: YONG LOO LIN SCHOOL OF MEDICINE
• Format: Article
• Published: Elsevier BV 2021
• Subjects: breast cancer risk; functional annotation; risk locus; Breast Neoplasms; CRISPR-Cas Systems; Cell Line; Chromosome Mapping; Chromosomes, Human, Pair 2; Female; Genetic Association Studies; Genetic Variation; Humans; Insulin-Like Growth Factor Binding Protein 5; Molecular Sequence Annotation; Promoter Regions, Genetic; Risk Factors; Sequence Deletion
• Online Access: https://scholarbank.nus.edu.sg/handle/10635/207966
• Institution: National University of Singapore

10.1016/j.ajhg.2021.05.013