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

View/ Open
Date
2018-05Author
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
Type
Journal Article
Metadata
Show full item recordCollections
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