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

Colombo, M; Lòpez-Perolio, I; Meeks, HD; Caleca, L; Parsons, MT; Li, H; De Vecchi, G; Tudini, E; Foglia, C; Mondini, P; +105 more... 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; Aittomäki, 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; Dörk, T; Eriksson, M; Fasching, PA; Figueroa, J; Fletcher, O; Flyger, H; Gabrielson, M; García-Closas, M; Giles, GG; González-Neira, A; Guénel, P; Haiman, CA; Hall, P; Hamann, U; Hartman, M; Hauke, J; Hollestelle, A; Hopper, JL; Jakubowska, A; Jung, A; Kosma, VM; 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; Pylkäs, 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; kConFab/AOCS Investigators; Dunning, AM; Easton, DF; Henderson, A; Hogervorst, FBL; Izatt, L; Offitt, K; Side, LE; van Rensburg, EJ; Embrace, S; Hebon, S; McGuffog, L; Antoniou, AC; Chenevix-Trench, G; Spurdle, AB; Goldgar, DE; Hoya, M; Radice, P; (2018) The BRCA2 c.68-7T > A variant is not pathogenic: A model for clinical calibration of spliceogenicity. Human mutation, 39 (5). pp. 729-741. ISSN 1059-7794 DOI: https://doi.org/10.1002/humu.23411

Permanent Identifier

Use this Digital Object Identifier when citing or linking to this resource.

https://doi.org/10.1002/humu.23411

Abstract

Share

Download

Filename: The -BRCA2c68-7T-A-variant-is-not-pathogenic.pdf

Licence: Creative Commons: Attribution 3.0

Download
[img]

Downloads

View details

Metrics & Citations


Google Scholar