title: A novel BRCA1 mutation in a Spanish patient with ovarian cancer.
abstract: 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.
authors.affiliation: Clinical Genetics Unit, University Clinic of Navarra (CUN), Avda. Pio XII, 36, 31008 Pamplona, Navarra, Spain. jsalgadog@unav.es
authors.forename: Josefa
authors.initials: J
authors.lastname: Salgado
authors.forename: Carmen
authors.initials: C
authors.lastname: Gil
authors.forename: Maitane
authors.initials: M
authors.lastname: Robles
authors.forename: Jesús
authors.initials: J
authors.lastname: García-Foncillas
mesh_terms: D000230:Adenocarcinoma / Q000235:genetics*; D000328:Adult; D005260:Female; D019398:Genes, BRCA1; D018095:Germ-Line Mutation; D006801:Humans; D008297:Male; D010051:Ovarian Neoplasms / Q000235:genetics*; D010375:Pedigree; D013030:Spain