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

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.

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