Pitfalls in genetic testing: a case of a SNP in primer‐annealing region leading to allele dropout in BRCA1

BACKGROUND: Hereditary breast and ovarian cancer is characterized by mutations in BRCA1 or BRCA2 genes and PCR‐based screening techniques, such as capillary sequencing and next‐generation sequencing (NGS), are considered gold standard methods for detection of pathogenic mutations in these genes. Sin...

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Dades bibliogràfiques
Publicat a:Mol Genet Genomic Med
Autors principals: Silva, Felipe Carneiro, Torrezan, Giovana Tardin, Brianese, Rafael Canfield, Stabellini, Raquel, Carraro, Dirce Maria
Format: Artigo
Idioma:Inglês
Publicat: John Wiley and Sons Inc. 2017
Matèries:
Clinical Reports
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC5511807/
https://ncbi.nlm.nih.gov/pubmed/28717669
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/mgg3.295
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