A novel BRCA1 mutation in a Spanish patient with ovarian cancer

Josefa Salgado (1) , Carmen Gil (1) , Maitane Robles (1) , Jesús García-Foncillas (1, 2)

1 Clinical Genetics Unit
2 Laboratory of Pharmacogenomics

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.

Mots clés: Direct automatic sequencing; Germline mutation; Ovarian cancer; BRCA1

Josefa Salgado, Carmen Gil, Maitane Robles, Jesús García-Foncillas. A novel BRCA1 mutation in a Spanish patient with ovarian cancer. Breast Cancer Research and Treatment, 2008, 113 (1), pp.71-73. ⟨10.1007/s10549-008-9907-6⟩. ⟨hal-00478304⟩