Alternative mRNA splicing can attenuate the pathogenicity of presumed loss-of-function variants in BRCA2.

Mesman, Romy L S; Calléja, Fabienne M G R; de la Hoya, Miguel; Devilee, Peter; van Asperen, Christi J; Vrieling, Harry; Vreeswijk, Maaike P G

Mesman, Romy L S; Calléja, Fabienne M G R; de la Hoya, Miguel; Devilee, Peter; van Asperen, Christi J; Vrieling, Harry; Vreeswijk, Maaike P G.

Afiliación

Mesman RLS; Department of Human Genetics, Leiden University Medical Center, Leiden, The Netherlands.
Calléja FMGR; Department of Human Genetics, Leiden University Medical Center, Leiden, The Netherlands.
de la Hoya M; Molecular Oncology Laboratory, Instituto de Investigacion Sanitaria San Carlos, Hospital Clinico San Carlos, Madrid, Spain.
Devilee P; Department of Human Genetics, Leiden University Medical Center, Leiden, The Netherlands.
van Asperen CJ; Department of Pathology, Leiden University Medical Center, Leiden, The Netherlands.
Vrieling H; Department of Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands.
Vreeswijk MPG; Department of Human Genetics, Leiden University Medical Center, Leiden, The Netherlands.

Genet Med ; 22(8): 1355-1365, 2020 08.

Article en En | MEDLINE | ID: mdl-32398771

Asunto(s)

Empalme Alternativo; Proteína BRCA2; Empalme Alternativo/genética; Proteína BRCA2/genética; Humanos; Sitios de Empalme de ARN/genética; Empalme del ARN; ARN Mensajero/genética; Virulencia

Palabras clave

BRCA2 variants; alternative mRNA splicing; breast cancer risk; functional assays; homology directed repair

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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Empalme Alternativo / Proteína BRCA2 Tipo de estudio: Prognostic_studies Límite: Humans Idioma: En Revista: Genet Med Asunto de la revista: GENETICA MEDICA Año: 2020 Tipo del documento: Article País de afiliación: Países Bajos

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