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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...
| Autores principales: | , , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
John Wiley and Sons Inc.
2017
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| Materias: | |
| 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 |