BRCA2 germ-line mutations in Spanish male breast cancer patients

Background: Mutations in the BRCA2 gene account for the majority of the fam ilies with male and female breast cancer cases, and a number of BRCA2 mutat ions have been reported in males with breast cancer. The aim of this study was to characterise BRCA2 germ-line mutations in Spanish male breast cancer patients. Patients and methods: We screened DNA from 11 affected men and 6 women with breast cancer (BC) who had an affected male relative (father or brother). Exons 2-9 and 12-27 were screened by SSCP, and exons 10 and 11 were screene d by PTT. PCR products with a variant band were sequenced. Results: Three BRCA2 frameshift mutations were identified (17.6%): the 3374 delA in codon 1049 (exon 11), 6857delAA in codon 2010 (exon 11), and 9254de lATCAT in codon 3009 (exon 23). These mutations were present in patients wi th affected first-degree relatives (3 of 9, 33%). The proportion of male pa tients with a family history of BC in at least one first-degree relative wa s 53%. Conclusions: There is an association between BRCA2 mutations and male breas t cancer, especially in those with a family history of BC. The high prevale nce of BRCA2 mutations among males should be considered when estimating ris k for female relatives. All new male cases of BC should be regarded as bein g possibly inherited and should be fully investigated.