The BRCA2 c.68-7T > A variant is not pathogenic: A model for clinical calibration of spliceogenicity
- Author(s):
- Colombo, M.; Lopez-Perolio, I.; Meeks, H.D.; Caleca, L.; Parsons, M.T.; Li, H.Y.; Vecchi, G. de; 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.; Bolla, M.K.; Dennis, J.; Michailidou, K.; Wang, Q.; Aittomaki, K.; Andrulis, I.L.; Anton-Culver, H.; Arndt, V.; Beckmann, M.W.; Beeghly-Fadel, A.; Benitez, J.; Boeckx, B.; Bogdanova, N.V.; Bojesen, S.E.; Bonanni, B.; Brauch, H.; Brenner, H.; Burwinkel, B.; Chang-Claude, J.; Conroy, D.M.; Couch, F.J.; Cox, A.; Cross, S.S.; Czene, K.; Devilee, P. (0000-0002-8023-2009); Dork, T.; Eriksson, M.; Fasching, P.A.; Figueroa, J.; Fletcher, O.; Flyger, H.; Gabrielson, M.; Garcia-Closas, M.; Giles, G.G.; Gonzalez-Neira, A.; Guenel, P.; Haiman, C.A.; Hall, P.; Hamann, U.; Hartman, M.; Hauke, J.; Hollestelle, A.; Hopper, J.L.; Jakubowska, A.; Jung, A.; Kosma, V.M.; Lambrechts, D.; Marchand, L. le; Lindblom, A.; Lubinski, J.; Mannermaa, A.; Margolin, S.; Miao, H.; Milne, R.L.; Neuhausen, S.L.; Nevanlinna, H.; Olson, J.E.; Peterlongo, P.; Peto, J.; Pylkas, K.; Sawyer, E.J.; Schmidt, M.K.; Schmutzler, R.K.; Schneeweiss, A.; Schoemaker, M.J.; See, M.H.; Southey, M.C.; Swerdlow, A.; Teo, S.H.; Toland, A.E.; Tomlinson, I.; Truong, T.; Asperen, C.J. van (0000-0002-1436-7650); Ouweland, A.M.W. van den; Kolk, L.E. van der; Winqvist, R.; Yannoukakos, D.; Zheng, W.; Dunning, A.M.; Easton, D.F.; Henderson, A.; Hogervorst, F.B.L.; Izatt, L.; Offitt, K.; Side, L.E.; Rensburg, E.J. van; McGuffog, L.; Antoniou, A.C.; Chenevix-Trench, G.; Spurdle, A.B.; Goldgar, D.E.; Hoya, M. de la; Radice, P.; kConFab AOCS Investigators; Study EMBRACE; Study HEBON
- Published
- 2018
- Publication type
- Article / Letter to editor
BRCA2digital PCRmultifactorial likelihood analysisquantitative real-time PCRspliceogenic variants
- Date issued
- 2018-05-31
- Language
- English
- Is part of
- Human Mutation: Variation, Informatics and Disease (2018), Vol. 39, no. 5, p. 729-741
- hdl
- 1887/79597
- doi
- 10.1002/humu.23411
- URL
- https://onlinelibrary.wiley.com/doi/epdf/10.1002/humu.23411
