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Identification of a new complex deleterious mutation in exon 18 of theBRCA2gene in a hereditary male/female breast cancer family

✍ Scribed by Orland Diez; Sara Gutiérrez-Enríquez; Miriam Masas; Anna Tenés; Carme Yagüe; Angels Arcusa; Gemma Llort

Publisher
Springer US
Year
2010
Tongue
English
Weight
232 KB
Volume
123
Category
Article
ISSN
0167-6806

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Identification of a new complex deleteri
Identification of a new complex deleterious mutation in exon 18 of theBRCA2gene in a hereditary male/female breast cancer family
✍ Orland Diez; Sara Gutiérrez-Enríquez; Miriam Masas; Anna Tenés; Carme Yagüe; Ang 📂 Article 📅 2010 🏛 Springer US 🌐 English ⚖ 232 KB

We report a novel complex mutation that consists of a deletion of 12 bp and an insertion of 2 bp (c.8402\_8413del12ins2bp) in the exon 18 of the BRCA2 gene. This is a frameshift mutation that causes a disruption of the translational reading frame resulting in a stop codon downstream in the 2729 posi