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

• Published in: International journal of molecular sciences Vol. 19; no. 1; p. 285
• Main Authors: Palmirotta, Raffaele, Lovero, Domenica, Stucci, Luigia, Silvestris, Erica, Quaresmini, Davide, Cardascia, Angela, Silvestris, Franco
• Format: Journal Article
• Language: English
• Published: Switzerland MDPI AG 18.01.2018; MDPI
• Subjects: Breast cancer; Case Report; Case reports; Genetic counseling; Mutation; Ovarian cancer; K3326X; double heterozygosity; BRCA1/BRCA2; mutational analysis; age of onset

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...