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Tumor Characteristics as an Analytic Tool for Classifying Genetic Variants of Uncertain Clinical Significance

It is important to identify a germline mutation in a patient with an inherited cancer syndrome to allow mutation carriers to be included in cancer surveillance programs, which have been proven to save lives. Many of the mutations identified result in premature termination of translation, and thus in...

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Detalhes bibliográficos
Main Authors: Hofstra, Robert M.W., Spurdle, Amanda B., Eccles, Diana, Foulkes, William D., de Wind, Niels, Hoogerbrugge, Nicoline, Hogervorst, Frans B.L.
Formato: Artigo
Idioma:Inglês
Publicado em: 2008
Assuntos:
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC2966299/
https://ncbi.nlm.nih.gov/pubmed/18951447
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/humu.20894
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