When is a mutation not a mutation: the case of the c.594-2A>C splice variant in a woman harbouring another BRCA1 mutation in trans.

Wong-Brown, Michelle; McPhillips, Mary; Gleeson, Margaret; Spigelman, Allan D; Meldrum, Cliff J; Dooley, Susan; Scott, Rodney J

Wong-Brown, Michelle; McPhillips, Mary; Gleeson, Margaret; Spigelman, Allan D; Meldrum, Cliff J; Dooley, Susan; Scott, Rodney J.

Afiliación

Wong-Brown M; Information Based Medicine Program, Hunter Medical Research Institute, Kookaburra Circuit, Newcastle, NSW 2305 Australia ; School of Biomedical Sciences and Pharmacy, Faculty of Medicine and Health, University of Newcastle, Callaghan, NSW 2308 Australia.
McPhillips M; Division of Molecular Medicine, Pathology North, John Hunter Hospital, Lookout Road, Newcastle, NSW 2305 Australia.
Gleeson M; Hunter Family Cancer Service, Hunter New England Health District, Newcastle, NSW 2300 Australia.
Spigelman AD; UNSW Medicine, St. Vincent's Hospital Clinical School, Sydney, Sydney, NSW 2010 Australia.
Meldrum CJ; Division of Molecular Medicine, Pathology North, John Hunter Hospital, Lookout Road, Newcastle, NSW 2305 Australia.
Dooley S; Division of Molecular Medicine, Pathology North, John Hunter Hospital, Lookout Road, Newcastle, NSW 2305 Australia.
Scott RJ; Information Based Medicine Program, Hunter Medical Research Institute, Kookaburra Circuit, Newcastle, NSW 2305 Australia ; School of Biomedical Sciences and Pharmacy, Faculty of Medicine and Health, University of Newcastle, Callaghan, NSW 2308 Australia ; Division of Molecular Medicine, Pathology No

Hered Cancer Clin Pract ; 14: 6, 2016.

Article en En | MEDLINE | ID: mdl-26884819

Palabras clave

BRCA1 mutations; Bi-allelic; Isoforms; Splice site

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Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Tipo de estudio: Prognostic_studies Idioma: En Revista: Hered Cancer Clin Pract Año: 2016 Tipo del documento: Article

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