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Transcriptome‐wide association study of breast cancer risk by estrogen‐receptor status

Transcriptome‐wide association study of breast cancer risk by estrogen‐receptor status

Title: Transcriptome‐wide association study of breast cancer risk by estrogen‐receptor status
Author: Feng, Helian
Gusev, Alexander
Pasaniuc, Bogdan
Wu, Lang
Long, Jirong
Abu‐full, Zomoroda
Aittomäki, Kristiina
Andrulis, Irene L.
Anton‐Culver, Hoda
Antoniou, Antonis C.
... 242 more authors Show all authors
Date: 2020-03-01
Language: English
Scope: 442-468
University/Institute: Háskóli Íslands
University of Iceland
School: Heilbrigðisvísindasvið (HÍ)
School of Health Sciences (UI)
Department: Læknadeild (HÍ)
Faculty of Medicine (UI)
Series: Genetic Epidemiology;44(5)
ISSN: 0741-0395
1098-2272 (eISSN)
DOI: 10.1002/gepi.22288
Subject: Breast cancer subtype; Causal gene; GWAS; TWAS; Brjóstakrabbamein; Krabbameinsrannsóknir; Gen; Erfðarannsóknir
URI: https://hdl.handle.net/20.500.11815/2421

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Feng, H., Gusev, A., Pasaniuc, B., Wu, L., Long, J., Abu‐Full, Z., Aittomäki, K., Andrulis, I.L., Anton‐Culver, H., Antoniou, A.C., Arason, A., Arndt, V., Aronson, K.J., Arun, B.K., Asseryanis, E., Auer, P.L., Azzollini, J., Balmaña, J., Barkardottir, R.B., Barnes, D.R., Barrowdale, D., Beckmann, M.W., Behrens, S., Benitez, J., Bermisheva, M., Białkowska, K., Blanco, A., Blomqvist, C., Boeckx, B., Bogdanova, N.V., Bojesen, S.E., Bolla, M.K., Bonanni, B., Borg, A., Brauch, H., Brenner, H., Briceno, I., Broeks, A., Brüning, T., Burwinkel, B., Cai, Q., Caldés, T., Caligo, M.A., Campbell, I., Canisius, S., Campa, D., Carter, B.D., Carter, J., Castelao, J.E., Chang‐Claude, J., Chanock, S.J., Christiansen, H., Chung, W.K., Claes, K.B.M., Clarke, C.L., Couch, F.J., Cox, A., Cross, S.S., Cybulski, C., Czene, K., Daly, M.B., Hoya, M., De Leeneer, K., Dennis, J., Devilee, P., Diez, O., Domchek, S.M., Dörk, T., Dos‐Santos‐Silva, I., Dunning, A.M., Dwek, M., Eccles, D.M., Ejlertsen, B., Ellberg, C., Engel, C., Eriksson, M., Fasching, P.A., Fletcher, O., Flyger, H., Fostira, F., Friedman, E., Fritschi, L., Frost, D., Gabrielson, M., Ganz, P.A., Gapstur, S.M., Garber, J., García‐Closas, M., García‐Sáenz, J.A., Gaudet, M.M., Giles, G.G., Glendon, G., Godwin, A.K., Goldberg, M.S., Goldgar, D.E., González‐Neira, A., Greene, M.H., Gronwald, J., Guénel, P., Haiman, C.A., Hall, P., Hamann, U., Hake, C., He, W., Heyworth, J., Hogervorst, F.B.L., Hollestelle, A., Hooning, M.J., Hoover, R.N., Hopper, J.L., Huang, G., Hulick, P.J., Humphreys, K., Imyanitov, E.N., Isaacs, C., Jakimovska, M., Jakubowska, A., James, P., Janavicius, R., Jankowitz, R.C., John, E.M., Johnson, N., Joseph, V., Jung, A., Karlan, B.Y., Khusnutdinova, E., Kiiski, J.I., Konstantopoulou, I., Kristensen, V.N., Laitman, Y., Lambrechts, D., Lazaro, C., Leroux, D., Leslie, G., Lester, J., Lesueur, F., Lindor, N., Lindström, S., Lo, W., Loud, J.T., Lubiński, J., Makalic, E., Mannermaa, A., Manoochehri, M., Manoukian, S., Margolin, S., Martens, J.W.M., Martinez, M.E., Matricardi, L., Maurer, T., Mavroudis, D., Mcguffog, L., Meindl, A., Menon, U., Michailidou, K., Kapoor, P.M., Miller, A., Montagna, M., Moreno, F., Moserle, L., Mulligan, A.M., Muranen, T.A., Nathanson, K.L., Neuhausen, S.L., Nevanlinna, H., Nevelsteen, I., Nielsen, F.C., Nikitina‐Zake, L., Offit, K., Olah, E., Olopade, O.I., Olsson, H., Osorio, A., Papp, J., Park‐Simon, T., Parsons, M.T., Pedersen, I.S., Peixoto, A., Peterlongo, P., Peto, J., Pharoah, P.D.P., Phillips, K., Plaseska‐Karanfilska, D., Poppe, B., Pradhan, N., Prajzendanc, K., Presneau, N., Punie, K., Pylkäs, K., Radice, P., Rantala, J., Rashid, M.U., Rennert, G., Risch, H.A., Robson, M., Romero, A., Saloustros, E., Sandler, D.P., Santos, C., Sawyer, E.J., Schmidt, M.K., Schmidt, D.F., Schmutzler, R.K., Schoemaker, M.J., Scott, R.J., Sharma, P., Shu, X., Simard, J., Singer, C.F., Skytte, A., Soucy, P., Southey, M.C., Spinelli, J.J., Spurdle, A.B., Stone, J., Swerdlow, A.J., Tapper, W.J., Taylor, J.A., Teixeira, M.R., Terry, M.B., Teulé, A., Thomassen, M., Thöne, K., Thull, D.L., Tischkowitz, M., Toland, A.E., Tollenaar, R.A.E.M., Torres, D., Truong, T., Tung, N., Vachon, C.M., Asperen, C.J., Ouweland, A.M.W., Rensburg, E.J., Vega, A., Viel, A., Vieiro‐Balo, P., Wang, Q., Wappenschmidt, B., Weinberg, C.R., Weitzel, J.N., Wendt, C., Winqvist, R., Yang, X.R., Yannoukakos, D., Ziogas, A., Milne, R.L., Easton, D.F., Chenevix‐Trench, G., Zheng, W., Kraft, P., Jiang, X., 2020. Transcriptome‐wide association study of breast cancer risk by estrogen‐receptor status. Genetic Epidemiology. doi:10.1002/gepi.22288

Abstract:

Previous transcriptome-wide association studies (TWAS) have identified breast cancer risk genes by integrating data from expression quantitative loci and genome-wide association studies (GWAS), but analyses of breast cancer subtype-specific associations have been limited. In this study, we conducted a TWAS using gene expression data from GTEx and summary statistics from the hitherto largest GWAS meta-analysis conducted for breast cancer overall, and by estrogen receptor subtypes (ER+ and ER−). We further compared associations with ER+ and ER− subtypes, using a case-only TWAS approach. We also conducted multigene conditional analyses in regions with multiple TWAS associations. Two genes, STXBP4 and HIST2H2BA, were specifically associated with ER+ but not with ER– breast cancer. We further identified 30 TWAS-significant genes associated with overall breast cancer risk, including four that were not identified in previous studies. Conditional analyses identified single independent breast-cancer gene in three of six regions harboring multiple TWAS-significant genes. Our study provides new information on breast cancer genetics and biology, particularly about genomic differences between ER+ and ER− breast cancer.

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