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
• DOI: 10.1007/s10549-010-0830-2

✦ Synopsis

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 position of the BRCA2 protein.

The mutation was present in a Spanish hereditary male/ female breast cancer family.