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An entire exon 3 germ-line rearrangement in the BRCA2 gene: pathogenic relevance of exon 3 deletion in breast cancer predisposition

BACKGROUND: Germ-line mutations in the BRCA1 and BRCA2 genes are major contributors to hereditary breast/ovarian cancer. Large rearrangements are less frequent in the BRCA2 gene than in BRCA1. We report, here, the first total deletion of exon 3 in the BRCA2 gene that was detected during screening of...

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Detalles Bibliográficos
Autores principales: Muller, Danièle, Rouleau, Etienne, Schultz, Inès, Caputo, Sandrine, Lefol, Cédrick, Bièche, Ivan, Caron, Olivier, Noguès, Catherine, Limacher, Jean Marc, Demange, Liliane, Lidereau, Rosette, Fricker, Jean Pierre, Abecassis, Joseph
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2011
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3198910/
https://www.ncbi.nlm.nih.gov/pubmed/21939546
http://dx.doi.org/10.1186/1471-2350-12-121