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

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

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Published version (578.0Kb)

Date

2018-05

ICR Author

Fletcher, Olivia

Schoemaker, Minouk

Swerdlow, Anthony

Author

Colombo, M

Lopez-Perolio, I

Meeks, HD

Caleca, L

Parsons, MT

Show all

Type

Journal Article

Subject

BRCA2

digital PCR

multifactorial likelihood analysis

quantitative real-time PCR

spliceogenic variants

Research team

Functional Genetic Epidemiology

Aetiological Epidemiology

Language

eng

Date accepted

2018-02-10

License start date

2018-05

Citation

HUMAN MUTATION, 2018, 39 (5), pp. 729 - 741

Except where otherwise noted, this item's license is described as https://creativecommons.org/licenses/by/4.0

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