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

M Colombo, I Lopez-Perolio, H D Meeks, L Caleca, MT Parsons, HY Li, G De Vecchi, E Tudini, C Foglia, P Mondini, S Manoukian, R Behar, EBG Garcia, A Meindl, M Montagna, D Niederacher, AY Schmidt, L Varesco, B Wappenschmidt, MK BollaJ Dennis, K Michailidou, Q Wang, K Aittomaki, IL Andrulis, H Anton-Culver, V Arndt, MW Beckmann, A Beeghly-Fadel, J Benitez, B Boeckx, NV Bogdanova, SE Bojesen, B Bonanni, H Brauch, H Brenner, B Burwinkel, J Chang-Claude, D M Conroy, FJ Couch, A Cox, SS Cross, K Czene, P Devilee, T Dork, M Eriksson, PA Fasching, J Figueroa, O Fletcher, H Flyger, M Gabrielson, M Garcia-Closas, GG Giles, A Gonzalez-Neira, P Guenel, CA Haiman, P Hall, U Hamann, M Hartman, J Hauke, Antoinette Hollestelle, JL Hopper, A Jakubowska, A Jung, VM Kosma, D Lambrechts, L Le Marchand, A Lindblom, J Lubinski, A Mannermaa, S Margolin, H Miao, RL Milne, SL Neuhausen, H Nevanlinna, JE Olson, P Peterlongo, J Peto, K Pylkas, EJ Sawyer, MK (Marjanka) Schmidt, RK Schmutzler, A Schneeweiss, MJ Schoemaker, MH See, MC Southey, A Swerdlow, SH Teo, AE Toland, I Tomlinson, T Truong, CJ van Asperen, Ans van den Ouweland, LE van der Kolk, R Winqvist, D Yannoukakos, W Zheng, AM Dunning, DF Easton, A Henderson, FBL Hogervorst, L Izatt, K Offitt, LE Side, EJ van Rensburg, L McGuffog, AC Antoniou, G Chenevix-Trench, AB Spurdle, DE Goldgar, M de la Hoya, P Radice

Research output: Contribution to journalArticleAcademicpeer-review

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

Research programs

  • EMC MM-03-86-01

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