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

Josefa Salgado (1) , José M. Aramendía (2) , Cristina Gutierrez (1) , Carmen Gil (1) , Maitane Robles (1) , Jesús García-Foncillas (1, 2)

1 Clinical Genetics Unit
2 Department of Oncology

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.

Mots clés: BRCA2; Novel mutation; Breast cancer; Prostatic cancer

Josefa Salgado, José M. Aramendía, Cristina Gutierrez, Carmen Gil, Maitane Robles, et al.. A novel BRCA2 mutation that segregates with breast and prostate cancer in a Spanish family. Breast Cancer Research and Treatment, 2009, 121 (1), pp.219-220. ⟨10.1007/s10549-009-0361-x⟩. ⟨hal-00486610⟩