In Iran and the rest of the world, breast cancer (BC) is the most common malignancy in women. Familial history and age are significant risk factors for the development of this disease in Iran. Most hereditary BCs are associated with inherited mutations in the BRCA1 and BRCA2 genes. Some recent studies demonstrated that BRCA1 mutations are seen in high-risk women with family histories of BC. In this report we investigated all BRCA1 exons from 40 female patients with family histories of BC and one BC twin, and report a novel mutation in this gene in one patient. As controls, BRCA1 exons from 100 normal women and the BC-free twin of the BC twin were also examined for this mutation. None of the women in the normal group harbored the mutation. Whether this variation is specific for the Iranian population or for special subgroups remains to be determined.

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