Hotspot mutations in cancer genes may be missed in routine diagnostics due to neighbouring sequence variants.
Exp Mol Pathol
; 105(1): 37-40, 2018 08.
Article
en En
| MEDLINE
| ID: mdl-29847769
ABSTRACT
The detection of hotspot mutations in key cancer genes is now an essential part of the diagnostic work-up in molecular pathology. Nearly all assays for mutation detection involve an amplification step. A second single nucleotide variant (SNV) on the same allele adjacent to a mutational hotspot can interfere with primer binding, leading to unnoticed allele-specific amplification of the wild type allele and thereby false-negative mutation testing. We present two diagnostic cases with false negative sequence results for JAK2 and SRSF2. In both cases mutations would have escaped detection if only one strand of DNA had been analysed. Because many commercially available diagnostic kits rely on the analysis of only one DNA strand they are prone to fail in cases like these. Detailed protocols and quality control measures to prevent corresponding pitfalls are presented.
Palabras clave
Texto completo:
1
Banco de datos:
MEDLINE
Asunto principal:
Policitemia Vera
/
Pruebas Genéticas
/
Análisis de Secuencia de ADN
/
Polimorfismo de Nucleótido Simple
/
Mutación
Tipo de estudio:
Diagnostic_studies
/
Guideline
/
Prognostic_studies
Límite:
Humans
Idioma:
En
Revista:
Exp Mol Pathol
Año:
2018
Tipo del documento:
Article
País de afiliación:
Alemania