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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Detalhes bibliográficos
Main Authors: Wappenschmidt, B, Fimmers, R, Rhiem, K, Brosig, M, Wardelmann, E, Meindl, A, Arnold, N, Mallmann, P, Schmutzler, RK
Formato: Artigo
Idioma:Inglês
Publicado em: BioMed Central 2005
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Research Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC1242149/
https://ncbi.nlm.nih.gov/pubmed/16168123
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/bcr1291
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