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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.
CITATION Oncol Lett. 2013 Sep;6(3):725-727. Epub 2013 Jul 3.