title: A novel BRCA2 mutation that segregates with breast and prostate cancer in a Spanish family.
abstract: 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.
authors.affiliation: Clinical Genetics Unit, University Clinic of Navarra (CUN), Pamplona, Navarra, Spain. jsalgadog@unav.es
authors.forename: Josefa
authors.initials: J
authors.lastname: Salgado
authors.forename: José M
authors.initials: JM
authors.lastname: Aramendía
authors.forename: Cristina
authors.initials: C
authors.lastname: Gutierrez
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: D001483:Base Sequence; D001943:Breast Neoplasms / Q000235:genetics*; D005260:Female; D024522:Genes, BRCA2; D020022:Genetic Predisposition to Disease; D006579:Heterozygote; D006801:Humans; D008297:Male; D008875:Middle Aged; D008969:Molecular Sequence Data; D009154:Mutation; D010051:Ovarian Neoplasms / Q000235:genetics; D010375:Pedigree; D011471:Prostatic Neoplasms / Q000235:genetics*; D013030:Spain