A novel mutation in BRCA1 linked to breast and ovarian cancer and a genotype-phenotype correlation
Keywords: 
Novel BRCA1 germline mutation
Breast cancer
Ovarian cancer
Issue Date: 
1-Sep-2011
Publisher: 
Spandidos
ISSN: 
1792-1074
Citation: 
Salgado J, Aramendía JM, Gutiérrez C, Gil C, Robles M, García-Foncillas J. A novel mutation in BRCA1 linked to breast and ovarian cancer and a genotype-phenotype correlation. Oncol Lett. 2011 Sep 1;2(5):807-809.
Abstract
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.

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