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

• Main Authors: 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, Bolla, M.K, Dennis, J, Michailidou, K, Wang, Q, Aittomäki, 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, Dörk, T, Eriksson, M, Fasching, P.A, Figueroa, J, Fletcher, O, Flyger, H, Gabrielson, M, García-Closas, M, Giles, G.G, González-Neira, A, Guénel, 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, Le Marchand, L, 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, Pylkäs, 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, van Asperen, C.J, van den Ouweland, A.M.W, van der Kolk, L.E, 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, van Rensburg, E.J, Embrace, S, Hebon, S, McGuffog, L, Antoniou, A.C, Chenevix-Trench, G, Spurdle, A.B, Goldgar, D.E, Hoya, M.D.L, Radice, P, kConFab/AOCS Investigators, Seah, S
• Other Authors: SURGERY
• Format: Article
• Published: John Wiley and Sons Inc. 2020
• Subjects: BRCA1 protein; BRCA2 protein; complementary DNA; isoprotein; messenger RNA; mitomycin; BRCA2 protein, human; Article; breast cancer; cancer inhibition; cancer risk; case control study; causality; cell viability; controlled study; droplet digital polymerase chain reaction; exon; female; gene frequency; gene mutation; genetic analysis; genetic risk; genetic screening; genetic transcription; genetic variation; heterozygosity; heterozygote; human; human cell; lymphoblastoid cell line; major clinical study; multicenter study; percentage of viable cells; priority journal; protein function; qualitative analysis; quantitative analysis; real time polymerase chain reaction; segregation analysis; spliceosome; biological model; calibration; cell line; genetic predisposition; genetics; metabolism; nucleotide sequence; RNA splicing; Base Sequence; BRCA2 Protein; Calibration; Cell Line; Exons; Female; Genetic Predisposition to Disease; Genetic Variation; Humans; Mitomycin; Models, Genetic; RNA Splicing; RNA, Messenger
• Online Access: https://scholarbank.nus.edu.sg/handle/10635/175117
• Institution: National University of Singapore

10.1002/humu.23411