A novel BRCA1 mutation in a Spanish patient with ovarian cancer.
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.
Salgado
Josefa
J
Clinical Genetics Unit, University Clinic of Navarra (CUN), Avda. Pio XII, 36, 31008 Pamplona, Navarra, Spain. jsalgadog@unav.es
Gil
Carmen
C
Robles
Maitane
M
García-Foncillas
Jesús
J
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