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Strong evidence that the common variant S384F in BRCA2 has no pathogenic relevance in hereditary breast cancer

INTRODUCTION: Unclassified variants (UVs) of unknown clinical significance are frequently detected in the BRCA2 gene. In this study, we have investigated the potential pathogenic relevance of the recurrent UV S384F (BRCA2, exon 10). METHODS: For co-segregation, four women from a large kindred (BN326...

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Detalles Bibliográficos
Autores principales: Wappenschmidt, B, Fimmers, R, Rhiem, K, Brosig, M, Wardelmann, E, Meindl, A, Arnold, N, Mallmann, P, Schmutzler, RK
Formato: Texto
Lenguaje:English
Publicado: BioMed Central 2005
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC1242149/
https://www.ncbi.nlm.nih.gov/pubmed/16168123
http://dx.doi.org/10.1186/bcr1291