Analysis of 30 Putative BRCA1 Splicing Mutations in Hereditary Breast and Ovarian Cancer Families Identifies Exonic Splice Site Mutations That Escape In Silico Prediction

Screening for pathogenic mutations in breast and ovarian cancer genes such as BRCA1/2, CHEK2 and RAD51C is common practice for individuals from high-risk families. However, test results may be ambiguous due to the presence of unclassified variants (UCV) in the concurrent absence of clearly cancer-pr...

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Detalles Bibliográficos
Autores principales: Wappenschmidt, Barbara, Becker, Alexandra A., Hauke, Jan, Weber, Ute, Engert, Stefanie, Köhler, Juliane, Kast, Karin, Arnold, Norbert, Rhiem, Kerstin, Hahnen, Eric, Meindl, Alfons, Schmutzler, Rita K.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Public Library of Science 2012
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3519833/
https://www.ncbi.nlm.nih.gov/pubmed/23239986
http://dx.doi.org/10.1371/journal.pone.0050800

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