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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Bibliografiska uppgifter
I publikationen:Br J Cancer
Huvudupphovsmän: Ellison, Gillian, Wallace, Andrew, Kohlmann, Alexander, Patton, Simon
Materialtyp: Artigo
Språk:Inglês
Publicerad: Nature Publishing Group 2017
Ämnen:
Genetics & Genomics
Länkar:https://ncbi.nlm.nih.gov/pmc/articles/PMC5572178/
https://ncbi.nlm.nih.gov/pubmed/28751759
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/bjc.2017.223
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