Scientific publications

A novel BRCA1 mutation in a Spanish patient with ovarian cancer

Salgado J [SP]., Gil C., Robles M., García-Foncillas J.
Clinical Genetics Unit, University Clinic of Navarra (CUN), Avda. Pío XII, 36, 31008 Pamplona, Navarra, Spain.

Magazine: Breast Cancer Research Treatment

Date: Jan 1, 2009

Clinical Genetics Unit [SP]

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

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