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

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

doi:10.1002/humu.23415

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

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

Research output: Contribution to journal › Article › Academic › peer-review

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Original language	Undefined/Unknown
Pages (from-to)	729-741
Number of pages	13
Journal	Human Mutation
Volume	39
Issue number	5
DOIs	https://doi.org/10.1002/humu.23415
Publication status	Published - 2018

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10.1002/humu.23415

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http://hdl.handle.net/1765/105670

Cite this

Colombo, M., Lopez-Perolio, I., Meeks, H. D., Caleca, L., Parsons, MT., Li, HY., 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., ... Radice, P. (2018). The BRCA2 c.68-7T > A variant is not pathogenic: A model for clinical calibration of spliceogenicity. Human Mutation, 39(5), 729-741. https://doi.org/10.1002/humu.23415

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

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

year = "2018",

doi = "10.1002/humu.23415",

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volume = "39",

pages = "729--741",

journal = "Human Mutation",

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Colombo, M, Lopez-Perolio, I, Meeks, HD, Caleca, L, Parsons, MT, Li, HY, 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, 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, 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, A, 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 2018, 'The BRCA2 c.68-7T > A variant is not pathogenic: A model for clinical calibration of spliceogenicity', Human Mutation, vol. 39, no. 5, pp. 729-741. https://doi.org/10.1002/humu.23415

TY - JOUR

T1 - The BRCA2 c.68-7T > A variant is not pathogenic: A model for clinical calibration of spliceogenicity

AU - Colombo, M

AU - Lopez-Perolio, I

AU - Meeks, H D

AU - Caleca, L

AU - Parsons, MT

AU - Li, HY

AU - De Vecchi, G

AU - Tudini, E

AU - Foglia, C

AU - Mondini, P

AU - Manoukian, S

AU - Behar, R

AU - Garcia, EBG

AU - Meindl, A

AU - Montagna, M

AU - Niederacher, D

AU - Schmidt, AY

AU - Varesco, L

AU - Wappenschmidt, B

AU - Bolla, MK

AU - Dennis, J

AU - Michailidou, K

AU - Wang, Q

AU - Aittomaki, K

AU - Andrulis, IL

AU - Anton-Culver, H

AU - Arndt, V

AU - Beckmann, MW

AU - Beeghly-Fadel, A

AU - Benitez, J

AU - Boeckx, B

AU - Bogdanova, NV

AU - Bojesen, SE

AU - Bonanni, B

AU - Brauch, H

AU - Brenner, H

AU - Burwinkel, B

AU - Chang-Claude, J

AU - Conroy, D M

AU - Couch, FJ

AU - Cox, A

AU - Cross, SS

AU - Czene, K

AU - Devilee, P

AU - Dork, T

AU - Eriksson, M

AU - Fasching, PA

AU - Figueroa, J

AU - Fletcher, O

AU - Flyger, H

AU - Gabrielson, M

AU - Garcia-Closas, M

AU - Giles, GG

AU - Gonzalez-Neira, A

AU - Guenel, P

AU - Haiman, CA

AU - Hall, P

AU - Hamann, U

AU - Hartman, M

AU - Hauke, J

AU - Hollestelle, Antoinette

AU - Hopper, JL

AU - Jakubowska, A

AU - Jung, A

AU - Kosma, VM

AU - Lambrechts, D

AU - Le Marchand, L

AU - Lindblom, A

AU - Lubinski, J

AU - Mannermaa, A

AU - Margolin, S

AU - Miao, H

AU - Milne, RL

AU - Neuhausen, SL

AU - Nevanlinna, H

AU - Olson, JE

AU - Peterlongo, P

AU - Peto, J

AU - Pylkas, K

AU - Sawyer, EJ

AU - Schmidt, MK (Marjanka)

AU - Schmutzler, RK

AU - Schneeweiss, A

AU - Schoemaker, MJ

AU - See, MH

AU - Southey, MC

AU - Swerdlow, A

AU - Teo, SH

AU - Toland, AE

AU - Tomlinson, I

AU - Truong, T

AU - van Asperen, CJ

AU - van den Ouweland, Ans

AU - van der Kolk, LE

AU - Winqvist, R

AU - Yannoukakos, D

AU - Zheng, W

AU - Dunning, AM

AU - Easton, DF

AU - Henderson, A

AU - Hogervorst, FBL

AU - Izatt, L

AU - Offitt, K

AU - Side, LE

AU - van Rensburg, EJ

AU - McGuffog, L

AU - Antoniou, AC

AU - Chenevix-Trench, G

AU - Spurdle, AB

AU - Goldgar, DE

AU - de la Hoya, M

AU - Radice, P

PY - 2018

Y1 - 2018

U2 - 10.1002/humu.23415

DO - 10.1002/humu.23415

M3 - Article

SN - 1059-7794

VL - 39

SP - 729

EP - 741

JO - Human Mutation

JF - Human Mutation

IS - 5

ER -