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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Detalles Bibliográficos
Autores principales: Silva, Felipe Carneiro, Torrezan, Giovana Tardin, Brianese, Rafael Canfield, Stabellini, Raquel, Carraro, Dirce Maria
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2017
Materias:
Clinical Reports
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5511807/
https://www.ncbi.nlm.nih.gov/pubmed/28717669
http://dx.doi.org/10.1002/mgg3.295

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5511807/
https://www.ncbi.nlm.nih.gov/pubmed/28717669
http://dx.doi.org/10.1002/mgg3.295

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