Low-level constitutional mosaicism of a de novoBRCA1 gene mutation

BACKGROUND: Pathogenic BRCA1 mutations are usually inherited. Constitutional low-level BRCA1 mosaicism has never been reported. METHODS: Next-generation sequencing (NGS) of cancer gene panel of germline and tumour DNA in a patient with early onset, triple-negative breast cancer. RESULTS: Constitutio...

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Detalhes bibliográficos
Publicado no:Br J Cancer
Main Authors: Friedman, E, Efrat, N, Soussan-Gutman, L, Dvir, A, Kaplan, Y, Ekstein, T, Nykamp, K, Powers, M, Rabideau, M, Sorenson, J, Topper, S
Formato: Artigo
Idioma:Inglês
Publicado em: Nature Publishing Group 2015
Assuntos:
Genetics and Genomics
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC4333503/
https://ncbi.nlm.nih.gov/pubmed/25633036
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/bjc.2015.14
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