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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Publication Date

2018-05

ICR Author

Schoemaker, Minouk

Swerdlow, Anthony

Author

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

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URL

https://repository.icr.ac.uk/handle/internal/3020

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Licenseref URL

http://creativecommons.org/licenses/by/4.0/

Version of record

10.1002/humu.23411

Subject

BRCA2

digital PCR

multifactorial likelihood analysis

quantitative real-time PCR

spliceogenic variants

Research team

Aetiological Epidemiology

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 http://creativecommons.org/licenses/by/4.0/

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