Zobrazeno 1 - 4
of 4
pro vyhledávání: '"Orland Diez"'
Autor:
Alejandro Moles-Fernández, Anna Tenés, Adrià López-Fernández, Sara Gutiérrez-Enríquez, Judith Balmaña, Sandra Bonache, Gemma Montalban, Orland Diez, Neda Stjepanovic, Alexandra Gisbert-Beamud, Vanessa Bach, Estela Carrasco
Publikováno v:
Journal of Medical Genetics. 56:63-74
BackgroundGenetic analysis of BRCA1 and BRCA2 for the diagnosis of hereditary breast and ovarian cancer (HBOC) is commonly restricted to coding regions and exon-intron boundaries. Although germline pathogenic variants in these regions explain about ~
Autor:
Orland Diez, Mads Thomassen, Rita D. Brandão, Samantha C Ayoub, Phillip J. Whiley, Olufunmilayo I. Olopade, Mara Colombo, Claude Houdayer, Gorka Ruiz de Garibay, Diana Baralle, Conxi Lázaro, Kumar Lal, Paolo Radice, Demis Tserpelis, Miguel de la Hoya, Sara Gutiérrez-Enríquez, Gemma Montalban, Logan C. Walker, Barbara Wappenschmidt, Michael T. Parsons, Ana Vega, Ana Blanco, Alexandra Becker, Marta Santamariña, Irene López-Perolio, Bifeng Zhang, Marinus J. Blok, Amanda B. Spurdle, James D. Fackenthal, kConFab Investigators, Giovanna De Vecchi, Toshio F. Yoshimatsu
Publikováno v:
Journal of Medical Genetics, 53(8), 548-558. BMJ Publishing Group
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, Santamariña, M, Blanco, A, Wappenschmidt, B, Becker, A, Houdayer, C, Walker, L C, López-Perolio, I, Thomassen, M, Parsons, M, Whiley, P, Blok, M J, Brandão, R D, Tserpelis, D, Baralle, D, Montalban, G, Gutiérrez-Enríquez, S, Díez, O, Lázaro, C, Spurdle, A B, Radice, P, de la Hoya, M & kConFab Investigators 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
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, Santamariña, M, Blanco, A, Wappenschmidt, B, Becker, A, Houdayer, C, Walker, L C, López-Perolio, I, Thomassen, M, Parsons, M, Whiley, P, Blok, M J, Brandão, R D, Tserpelis, D, Baralle, D, Montalban, G, Gutiérrez-Enríquez, S, Díez, O, Lázaro, C, Spurdle, A B, Radice, P, de la Hoya, M & kConFab Investigators 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
BACKGROUND: BRCA1 and BRCA2 are the two principal tumour suppressor genes associated with inherited high risk of breast and ovarian cancer. Genetic testing of BRCA1/2 will often reveal one or more sequence variants of uncertain clinical significance,
Autor:
Gemma, Montalban, Sandra, Bonache, Alejandro, Moles-Fernández, Alexandra, Gisbert-Beamud, Anna, Tenés, Vanessa, Bach, Estela, Carrasco, Adrià, López-Fernández, Neda, Stjepanovic, Judith, Balmaña, Orland, Diez, Sara, Gutiérrez-Enríquez
Publikováno v:
Journal of medical genetics. 56(2)
Genetic analysis ofWe analysedA novel transcript was detected inScreening of
Autor:
Ross I. Brinkworth, Melissa C. Southey, Mark A. Jenkins, Jane E. Visvader, Geoffrey J. Lindeman, David E. Goldgar, W. Au, Georgia Chenevix-Trench, Shannon R. Hinson, A. Bekessy, Andrea Tesoriero, Eleanor Y. M. Sum, Sue Healey, Paul K. Lovelock, Beric R. Henderson, Orland Diez, Paul Waring, Ee Ming Wong, Helene Renard, Fergus J. Couch, John L. Hopper, Ellen Solomon, Sean V. Tavtigian, Matthew A. Brown, Louise Izatt, Amanda B. Spurdle
Publikováno v:
Journal of Medical Genetics. 43:74-83
Background: The vast majority of BRCA1 missense sequence variants remain uncharacterised for their possible effect on protein expression and function, and therefore are unclassified in terms of their pathogenicity. BRCA1 plays diverse cellular roles