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

doi:10.3390/ijms19010285

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Article

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

International journal of molecular sciences - 18 Jan 2018

Palmirotta Raffaele, Lovero Domenica, Stucci Luigia Stefania, Silvestris Erica, Quaresmini Davide, Cardascia Angela, Silvestris Franco

Abstract excerpt

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 which is currently regarded as benign polymorphism in main gene databases. Recent studies, however, describe this...

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PMID: 29346284
DOI: 10.3390/ijms19010285
PMCID: PMC5796231

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BRCA1
BRCA2

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