Naturally occurring BRCA2 alternative mRNA splicing events in clinically relevant samples

James D. Fackenthal; Toshio Yoshimatsu; Bifeng Zhang; Gorka R. de Garibay; Mara Colombo; Giovanna De Vecchi; Samantha C. Ayoub; Kumar Lal; Olufunmilayo I. Olopade; Ana Vega; Marta Santamarina; Ana Blanco; Barbara Wappenschmidt; Alexandra Becker; Claude Houdayer; Logan C. Walker; Irene Lopez-Perolio; Mads Thomassen; Michael Parsons; Phillip Whiley; Marinus J. Blok; Rita Dias Brandão; Demis Tserpelis; Diana Baralle; Gemma Montalban; Sara Gutierrez-Enriquez; Orland Diez; Conxi Lazaro; Amanda B. Spurdle; Paolo Radice; Miguel de la Hoya

doi:10.1136/jmedgenet-2015-103570

Naturally occurring BRCA2 alternative mRNA splicing events in clinically relevant samples

James D. Fackenthal^*, Toshio Yoshimatsu, Bifeng Zhang, Gorka R. de Garibay, Mara Colombo, Giovanna De Vecchi, Samantha C. Ayoub, Kumar Lal, Olufunmilayo I. Olopade, Ana Vega, Marta Santamarina, Ana Blanco, Barbara Wappenschmidt, Alexandra Becker, Claude Houdayer, Logan C. Walker, Irene Lopez-Perolio, Mads Thomassen, Michael Parsons, Phillip WhileyMarinus J. Blok, Rita Dias Brandão, Demis Tserpelis, Diana Baralle, Gemma Montalban, Sara Gutierrez-Enriquez, Orland Diez, Conxi Lazaro, Amanda B. Spurdle, Paolo Radice, Miguel de la Hoya

^*Corresponding author for this work

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

Original language	English
Pages (from-to)	548-558
Journal	Journal of Medical Genetics
Volume	53
Issue number	8
DOIs	https://doi.org/10.1136/jmedgenet-2015-103570
Publication status	Published - Aug 2016

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10.1136/jmedgenet-2015-103570

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Fackenthal, J. D., Yoshimatsu, T., Zhang, B., de Garibay, G. R., Colombo, M., De Vecchi, G., Ayoub, S. C., Lal, K., Olopade, O. I., Vega, A., Santamarina, M., Blanco, A., Wappenschmidt, B., Becker, A., Houdayer, C., Walker, L. C., Lopez-Perolio, I., Thomassen, M., Parsons, M., ... de la Hoya, M. (2016). Naturally occurring BRCA2 alternative mRNA splicing events in clinically relevant samples. Journal of Medical Genetics, 53(8), 548-558. https://doi.org/10.1136/jmedgenet-2015-103570

Fackenthal, James D. ; Yoshimatsu, Toshio ; Zhang, Bifeng ; de Garibay, Gorka R. ; Colombo, Mara ; De Vecchi, Giovanna ; Ayoub, Samantha C. ; Lal, Kumar ; Olopade, Olufunmilayo I. ; Vega, Ana ; Santamarina, Marta ; Blanco, Ana ; Wappenschmidt, Barbara ; Becker, Alexandra ; Houdayer, Claude ; Walker, Logan C. ; Lopez-Perolio, Irene ; Thomassen, Mads ; Parsons, Michael ; Whiley, Phillip ; Blok, Marinus J. ; Dias Brandão, Rita ; Tserpelis, Demis ; Baralle, Diana ; Montalban, Gemma ; Gutierrez-Enriquez, Sara ; Diez, Orland ; Lazaro, Conxi ; Spurdle, Amanda B. ; Radice, Paolo ; de la Hoya, Miguel. / Naturally occurring BRCA2 alternative mRNA splicing events in clinically relevant samples. In: Journal of Medical Genetics. 2016 ; Vol. 53, No. 8. pp. 548-558.

@article{a52621c10b604146bf7f85edbbd523b4,

title = "Naturally occurring BRCA2 alternative mRNA splicing events in clinically relevant samples",

author = "Fackenthal, {James D.} and Toshio Yoshimatsu and Bifeng Zhang and {de Garibay}, {Gorka R.} and Mara Colombo and {De Vecchi}, Giovanna and Ayoub, {Samantha C.} and Kumar Lal and Olopade, {Olufunmilayo I.} and Ana Vega and Marta Santamarina and Ana Blanco and Barbara Wappenschmidt and Alexandra Becker and Claude Houdayer and Walker, {Logan C.} and Irene Lopez-Perolio and Mads Thomassen and Michael Parsons and Phillip Whiley and Blok, {Marinus J.} and {Dias Brand{\~a}o}, Rita and Demis Tserpelis and Diana Baralle and Gemma Montalban and Sara Gutierrez-Enriquez and Orland Diez and Conxi Lazaro and Spurdle, {Amanda B.} and Paolo Radice and {de la Hoya}, Miguel",

year = "2016",

month = aug,

doi = "10.1136/jmedgenet-2015-103570",

language = "English",

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Fackenthal, JD, Yoshimatsu, T, Zhang, B, de Garibay, GR, Colombo, M, De Vecchi, G, Ayoub, SC, Lal, K, Olopade, OI, Vega, A, Santamarina, M, Blanco, A, Wappenschmidt, B, Becker, A, Houdayer, C, Walker, LC, Lopez-Perolio, I, Thomassen, M, Parsons, M, Whiley, P, Blok, MJ, Dias Brandão, R, Tserpelis, D, Baralle, D, Montalban, G, Gutierrez-Enriquez, S, Diez, O, Lazaro, C, Spurdle, AB, Radice, P & de la Hoya, M 2016, 'Naturally occurring BRCA2 alternative mRNA splicing events in clinically relevant samples', Journal of Medical Genetics, vol. 53, no. 8, pp. 548-558. https://doi.org/10.1136/jmedgenet-2015-103570

Naturally occurring BRCA2 alternative mRNA splicing events in clinically relevant samples. / Fackenthal, James D.; Yoshimatsu, Toshio; Zhang, Bifeng; de Garibay, Gorka R.; Colombo, Mara; De Vecchi, Giovanna; Ayoub, Samantha C.; Lal, Kumar; Olopade, Olufunmilayo I.; Vega, Ana; Santamarina, Marta; Blanco, Ana; Wappenschmidt, Barbara; Becker, Alexandra; Houdayer, Claude; Walker, Logan C.; Lopez-Perolio, Irene; Thomassen, Mads; Parsons, Michael; Whiley, Phillip; Blok, Marinus J.; Dias Brandão, Rita; Tserpelis, Demis; Baralle, Diana; Montalban, Gemma; Gutierrez-Enriquez, Sara; Diez, Orland; Lazaro, Conxi; Spurdle, Amanda B.; Radice, Paolo; de la Hoya, Miguel.

In: Journal of Medical Genetics, Vol. 53, No. 8, 08.2016, p. 548-558.

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

TY - JOUR

T1 - Naturally occurring BRCA2 alternative mRNA splicing events in clinically relevant samples

AU - Fackenthal, James D.

AU - Yoshimatsu, Toshio

AU - Zhang, Bifeng

AU - de Garibay, Gorka R.

AU - Colombo, Mara

AU - De Vecchi, Giovanna

AU - Ayoub, Samantha C.

AU - Lal, Kumar

AU - Olopade, Olufunmilayo I.

AU - Vega, Ana

AU - Santamarina, Marta

AU - Blanco, Ana

AU - Wappenschmidt, Barbara

AU - Becker, Alexandra

AU - Houdayer, Claude

AU - Walker, Logan C.

AU - Lopez-Perolio, Irene

AU - Thomassen, Mads

AU - Parsons, Michael

AU - Whiley, Phillip

AU - Blok, Marinus J.

AU - Dias Brandão, Rita

AU - Tserpelis, Demis

AU - Baralle, Diana

AU - Montalban, Gemma

AU - Gutierrez-Enriquez, Sara

AU - Diez, Orland

AU - Lazaro, Conxi

AU - Spurdle, Amanda B.

AU - Radice, Paolo

AU - de la Hoya, Miguel

PY - 2016/8

Y1 - 2016/8

U2 - 10.1136/jmedgenet-2015-103570

DO - 10.1136/jmedgenet-2015-103570

M3 - Article

C2 - 27060066

VL - 53

SP - 548

EP - 558

JO - Journal of Medical Genetics

JF - Journal of Medical Genetics

SN - 0022-2593

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ER -