Double Heterozygosity for BRCA1 Pathogenic Variant and BRCA2 Polymorphic Stop Codon K3326X: A Case Report in a Southern Italian Family

Here, we describe a patient with bilateral breast cancer and melanoma, and with a concomitant double variant, namely p.Gln563Ter in BRCA1 and p.Lys3326Ter in BRCA2. The BRCA2 p.Lys3326Ter (K3326X) (rs11571833) mutation identified in our patient is a debated substitution of thymidine for adenine whic...

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Bibliografische gegevens
Gepubliceerd in:Int J Mol Sci
Hoofdauteurs: Palmirotta, Raffaele, Lovero, Domenica, Stucci, Luigia Stefania, Silvestris, Erica, Quaresmini, Davide, Cardascia, Angela, Silvestris, Franco
Formaat: Artigo
Taal:Inglês
Gepubliceerd in: MDPI 2018
Onderwerpen:
Case Report
Online toegang:https://ncbi.nlm.nih.gov/pmc/articles/PMC5796231/
https://ncbi.nlm.nih.gov/pubmed/29346284
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3390/ijms19010285
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