Salgado J, Santisteban M, Gutierrez C, Gil C, Robles M, Viedma A, et al. A novel BRCA1 mutation in a patient with breast and ovarian cancer: A case report. Oncol Lett. 2013 September;6(3):725–727.
Germline mutations in the human breast cancer genes BRCA1 and BRCA2 account for a substantial proportion of familial, early-onset breast and ovarian cancers. The present study reports a novel disease-causing BRCA1 mutation, nucleotide 3020insCT/c.2901insCT, in a 55-year-old Spanish female with breast and ovarian cancer. This frameshift mutation creates a premature stop codon at amino acid 1000, leading to a truncated BRCA1 protein. To the best of our knowledge, this mutation has not been previously described in the Breast Cancer Information Core (BIC) database or the published literature