Functional classification of BRCA2 DNA variants by splicing assays in a large minigene with 9 exons.

Acedo, Alberto; Hernández-Moro, Cristina; Curiel-García, Álvaro; Díez-Gómez, Beatriz; Velasco, Eladio A

Acedo, Alberto; Hernández-Moro, Cristina; Curiel-García, Álvaro; Díez-Gómez, Beatriz; Velasco, Eladio A.

Affiliation

Acedo A; Splicing and Genetic Susceptibility to Cancer, Instituto de Biología y Genética Molecular (CSIC-UVa), Valladolid, Spain.

Hum Mutat ; 36(2): 210-21, 2015 Feb.

Article in En | MEDLINE | ID: mdl-25382762

Subject(s)

Alternative Splicing; BRCA2 Protein/genetics; BRCA2 Protein/metabolism; Exons; Genetic Association Studies; HeLa Cells; Hereditary Breast and Ovarian Cancer Syndrome/genetics; Humans; MCF-7 Cells; Protein Isoforms/genetics; Protein Isoforms/metabolism

Key words

BRCA2; hereditary breast and ovarian cancer; minigenes; splicing; unclassified variants

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Full text: 1 Database: MEDLINE Main subject: Alternative Splicing / BRCA2 Protein Type of study: Prognostic_studies Limits: Humans Language: En Journal: Hum Mutat Journal subject: GENETICA MEDICA Year: 2015 Type: Article Affiliation country: Spain

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