Viedma, A. (Adriana)
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- A novel BRCA1 mutation in a patient with breast and ovarian cancer: A case report(Spandidos Publications, 2013) Patiño-García, A. (Ana); Gil, C. (Carmen); Viedma, A. (Adriana); Gutierrez, C. (Cristina); Santisteban, M. (Marta); Salgado, J. (Josefa); Robles, M. (Maitane)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