The BRCA2 c.68-7T > A variant is not pathogenic: A model for clinical calibration of spliceogenicity

M. Colombo, I. Lòpez-Perolio, H.D. Meeks, L. Caleca, M.T. Parsons, H. Li, G. De Vecchi, E. Tudini, C. Foglia, P. Mondini, S. Manoukian, R. Behar, E.B.G. Garcia, A. Meindl, M. Montagna, D. Niederacher, A.Y. Schmidt, L. Varesco, B. Wappenschmidt, M.K. BollaJ. Dennis, K. Michailidou, Q. Wang, K. Aittomäki, I.L. Andrulis, H. Anton-Culver, V. Arndt, M.W. Beckmann, A. Beeghly-Fadel, J. Benitez, B. Boeckx, N.V. Bogdanova, S.E. Bojesen, B. Bonanni, H. Brauch, H. Brenner, B. Burwinkel, J. Chang-Claude, D.M. Conroy, F.J. Couch, A. Cox, S.S. Cross, K. Czene, P. Devilee, T. Dörk, M. Eriksson, P.A. Fasching, J. Figueroa, O. Fletcher, H. Flyger, M. Gabrielson, M. García-Closas, G.G. Giles, A. González-Neira, P. Guénel, C.A. Haiman, P. Hall, U. Hamann, M. Hartman, J. Hauke, A. Hollestelle, J.L. Hopper, A. Jakubowska, A. Jung, V.-M. Kosma, D. Lambrechts, L. Le Marchand, A. Lindblom, J. Lubinski, A. Mannermaa, S. Margolin, H. Miao, R.L. Milne, S.L. Neuhausen, H. Nevanlinna, J.E. Olson, P. Peterlongo, J. Peto, K. Pylkäs, E.J. Sawyer, M.K. Schmidt, R.K. Schmutzler, A. Schneeweiss, M.J. Schoemaker, M.H. See, M.C. Southey, A. Swerdlow, S.H. Teo, A.E. Toland, I. Tomlinson, T. Truong, C.J. van Asperen, A.M.W. van den Ouweland, L.E. van der Kolk, R. Winqvist, D. Yannoukakos, W. Zheng, A.M. Dunning, D.F. Easton, A. Henderson, F.B.L. Hogervorst, L. Izatt, K. Offitt, L.E. Side, E.J. van Rensburg, S. Embrace, S. Hebon, L. McGuffog, A.C. Antoniou, G. Chenevix-Trench, A.B. Spurdle, D.E. Goldgar, M.D.L. Hoya, P. Radice

Research output: Contribution to journalArticle

Original languageUndefined/Unknown
Pages (from-to)729-741
Number of pages13
JournalHuman Mutation
Volume39
Issue number5
DOIs
Publication statusPublished - 2018

Cite this

Colombo, M., Lòpez-Perolio, I., Meeks, H. D., Caleca, L., Parsons, M. T., Li, H., De Vecchi, G., Tudini, E., Foglia, C., Mondini, P., Manoukian, S., Behar, R., Garcia, E. B. G., Meindl, A., Montagna, M., Niederacher, D., Schmidt, A. Y., Varesco, L., Wappenschmidt, B., ... Radice, P. (2018). The BRCA2 c.68-7T > A variant is not pathogenic: A model for clinical calibration of spliceogenicity. Human Mutation, 39(5), 729-741. https://doi.org/10.1002/humu.23411