A novel BRCA1 mutation in a Spanish patient with ovarian cancer
Salgado J., Gil C., Robles M., García-Foncillas J.
Clinical Genetics Unit, University Clinic of Navarra (CUN), Avda. Pío XII, 36, 31008 Pamplona, Navarra, Spain.
We report a novel germline 3536delT mutation in BRCA1 gene, detected in a 43-year-old woman with bilateral ovarian adenocarcinoma.
The mutation originates a premature stop codon at position 1154 and has not been documented in any published report to the best of our knowledge.
CITATION Breast Cancer Res Treat. 2009 Jan;113(1):71-3