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Germline BAP1 mutations misreported as somatic based on tumor-only testing

We present three unrelated patients with germline mutations in BAP1 misreported as somatic mutations. All had strong family histories of cancer. One of these patients presented with an invasive breast cancer with the tumor tissue showing partial loss of the mutant rather than the wild type allele, s...

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Detalhes bibliográficos
Publicado no:Fam Cancer
Main Authors: Abdel-Rahman, Mohamed H., Rai, Karan, Pilarski, Robert, Davidorf, Frederick H., Cebulla, Colleen M.
Formato: Artigo
Idioma:Inglês
Publicado em: 2016
Assuntos:
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC4983194/
https://ncbi.nlm.nih.gov/pubmed/26748926
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1007/s10689-016-9865-9
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