A comparative study of germline BRCA1 and BRCA2 mutation screening methods in use in 20 European clinical diagnostic laboratories

BACKGROUND: Thousands of clinically relevant variations in BRCA1 and BRCA2 have been discovered and this poses a significant challenge with respect to the accurate detection, analysis turn-around time, characterisation and interpretation of these sequence variants. METHODS: We evaluated the performa...

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Detalles Bibliográficos
Autores principales: Ellison, Gillian, Wallace, Andrew, Kohlmann, Alexander, Patton, Simon
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group 2017
Materias:
Genetics & Genomics
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5572178/
https://www.ncbi.nlm.nih.gov/pubmed/28751759
http://dx.doi.org/10.1038/bjc.2017.223

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5572178/
https://www.ncbi.nlm.nih.gov/pubmed/28751759
http://dx.doi.org/10.1038/bjc.2017.223

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