Identification of a new mutation in the BRCA2 gene by the protein truncation test in a Spanish breast cancer family

The BRCA2 mutations are implicated in a high percentage of hereditary breas t cancer cases. We report a novel mutation in a Spanish breast cancer famil y, We analyzed DNA samples of the proband and of the living first and second d egree relatives. Exon 11 of BRCA2 gene were screened by the protein truncat ion test and direct sequencing. We identified a novel mutation, 6857delAA, in three affected women, diagnosed of breast cancer at 29, 51 and 45 years of age, respectively, and in a healthy male. The BRCA2 mutation seems to be implicated in the development of early-onset breast cancer cases in this family. Identification of this novel mutation adds to the information on BRCA2 gene in hereditary breast cancer in Spanis h population.