Scientific publications

A novel BRCA2 mutation that segregates with breast and prostate cancer in a Spanish family

Mar 1, 2009 | Magazine: Breast Cancer Research and Treatment

Salgado J., Aramendía J.M., Gutiérrez C., 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 5369delATTT mutation in BRCA2 gene, detected in a 45-year-old woman with bilateral breast cancer.

This deletion was also detected in her father with prostatic cancer and her sister with breast cancer. The mutation originates a premature stop at codon 1723 of BRCA2 protein and has not been documented in any published report to the best of our knowledge.

CITATION  Breast Cancer Res Treat. 2010 May;121(1):219-20