Assessing biases of information contained in pedigrees for the classification of BRCA-genetic variants: a study arising from the ENIGMA analytical working group

PURPOSE: One way of evaluating family history (FH) for classifying BRCA1/2 variants of uncertain clinical significance (VUS) is to assess the “BRCA-ness” of a pedigree by comparing it to reference populations. The aim of this study was to assess if prediction of BRCA pathogenic variant (mutation) st...

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Detalles Bibliográficos
Autores principales: Kerkhofs, C. H. H., Spurdle, A. B., Lindsey, P. J., Goldgar, D. E., Gómez-García, E. B.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2016
Materias:
Research
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4851774/
https://www.ncbi.nlm.nih.gov/pubmed/27134689
http://dx.doi.org/10.1186/s13053-016-0050-9

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