title: A novelBRCA1mutation in a patient with breast and ovarian cancer: A case report.
abstract: Germline mutations in the human breast cancer genesBRCA1andBRCA2account for a substantial proportion of familial, early-onset breast and ovarian cancers. The present study reports a novel disease-causingBRCA1mutation, 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.
authors.affiliation: Clinical Genetics Unit, University Clinic of Navarra (CUN), Pamplona, Navarra 31008, Spain.
authors.forename: Josefa
authors.initials: J
authors.lastname: Salgado
authors.forename: Marta
authors.initials: M
authors.lastname: Santisteban
authors.forename: Cristina
authors.initials: C
authors.lastname: Gutiérrez
authors.forename: Carmen
authors.initials: C
authors.lastname: Gil
authors.forename: Maitane
authors.initials: M
authors.lastname: Robles
authors.forename: Adriana
authors.initials: A
authors.lastname: Viedma
authors.forename: Ana
authors.initials: A
authors.lastname: Patiño-García
keywords: BRCA1; breast and ovarian cancer; novel mutation