Abstract
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.
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Acknowledgments
This work was in part funded by a grant (2008) from Fundación de Investigación Médica Mutua Madrileña.
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Diez, O., Gutiérrez-Enríquez, S., Masas, M. et al. Identification of a new complex deleterious mutation in exon 18 of the BRCA2 gene in a hereditary male/female breast cancer family. Breast Cancer Res Treat 123, 587–590 (2010). https://doi.org/10.1007/s10549-010-0830-2
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DOI: https://doi.org/10.1007/s10549-010-0830-2