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Germline BRCA1 Mutation Detected in a Multiple Endocrine Neoplasia Type 2 Case With RET Codon 634 Mutation

Coincidences of more than one pathogenic mutation in high and/or moderate risk-associated cancer genes have been rarely reported, and the implication for disease progression has been debated. We present a case harboring two autosomal dominant inherited mutations potentially aggravating the phenotype...

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Veröffentlicht in:Front Genet
Hauptverfasser: Sarkadi, Balázs, Baghy, Kornélia, Sápi, Zoltán, Nyirő, Gábor, Likó, István, Patócs, Attila
Format: Artigo
Sprache:Inglês
Veröffentlicht: Frontiers Media S.A. 2019
Schlagworte:
Online Zugang:https://ncbi.nlm.nih.gov/pmc/articles/PMC6584812/
https://ncbi.nlm.nih.gov/pubmed/31263477
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3389/fgene.2019.00544
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