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

Orland Diez (1, 2) , Sara Gutiérrez-Enríquez (2, 3) , Miriam Masas (1) , Anna Tenés (2) , Carme Yagüe (4) , Angels Arcusa (4) , Gemma Llort (4)

1 Oncogenetics Laboratory
2 VHIO - Vall d'Hebron Institute of Oncology [Barcelone]
3 Medical Oncology Program, Research Institute
4 Genetic Counseling Unit, Consorci Sanitari de Terrassa

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 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.

Mots clés: Mutation; Hereditary breast cancer

Orland Diez, Sara Gutiérrez-Enríquez, Miriam Masas, Anna Tenés, Carme Yagüe, et al.. Identification of a new complex deleterious mutation in exon 18 of the gene in a hereditary male/female breast cancer family. Breast Cancer Research and Treatment, 2010, 123 (2), pp.587-590. ⟨10.1007/s10549-010-0830-2⟩. ⟨hal-00517925⟩