Gil, C. (Carmen)
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- A novel mutation in BRCA1 linked to breast and ovarian cancer and a genotype-phenotype correlation(Spandidos, 2011-09-01) Gil, C. (Carmen); Gutierrez, C. (Cristina); Garcia-Foncillas, J. (Jesús); Aramendia, J.M. (J.M.); Salgado, J. (Josefa); Robles, M. (Maitane)We report a novel BRCA1 germline 4156delAA mutation detected in a 41-year-old woman with breast and ovarian cancer. Genomic DNA was obtained from peripheral blood. Standard polymerase chain reactions and direct sequencing were performed. This mutation originates a premature stop at codon 1354 of BRCA1 protein and has not been documented in any published report to the best of our knowledge. The mutation was not observed in any other family studied. Since this novel mutation was associated with both breast and ovarian cancer, the genotype-phenotype correlation was investigated in a patient base of 30 families.
- 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