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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...
Autores principales: | Palmirotta, Raffaele, Lovero, Domenica, Stucci, Luigia Stefania, Silvestris, Erica, Quaresmini, Davide, Cardascia, Angela, Silvestris, Franco |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
MDPI
2018
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5796231/ https://www.ncbi.nlm.nih.gov/pubmed/29346284 http://dx.doi.org/10.3390/ijms19010285 |
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