title: A novel Q3034R BRCA2 germline mutation identified in a fallopian tube cancer patient.
abstract: Fallopian tube cancer (FTC) accounts for 0.1-0.5% of all gynaecological malignancies, so that very few studies have demonstrated a significant linkage between this cancer type and BRCA1/BRCA2 mutations. We report the identification of a novel germline mutation (Q3034R) in BRCA2 gene in a 41-year-old patient. The nucleotide change (CAG > CGG) abolishes a DdeI restriction site, making genotype identification rapid and inexpensive. Our findings support the hypothesis that the primary FTC should be considered, at least in a subset of patients, as a BRCA2-associated tumor. Genetic counselling could result, in these cases, in early diagnosis of genetically predisposed individuals.
authors.affiliation: Dipartimento di Medicina Sperimentale e Clinica G Salvatore, Università degli Studi Magna Graecia di Catanzaro, Via T Campanella 115, 88100 Catanzaro, Italy.
authors.forename: Francesco
authors.initials: F
authors.lastname: Baudi
authors.forename: Loredana
authors.initials: L
authors.lastname: De Paola
authors.forename: Barbara
authors.initials: B
authors.lastname: Quaresima
authors.forename: Maria Concetta
authors.initials: MC
authors.lastname: Faniello
authors.forename: Giuseppina
authors.initials: G
authors.lastname: Fersini
authors.forename: Simona
authors.initials: S
authors.lastname: Gasparro
authors.forename: Giuliano
authors.initials: G
authors.lastname: Fabiani
authors.forename: Lorenza
authors.initials: L
authors.lastname: Driul
authors.forename: Angela
authors.initials: A
authors.lastname: D'Elia
authors.forename: Sara
authors.initials: S
authors.lastname: Casarsa
authors.forename: Diego
authors.initials: D
authors.lastname: Marchesoni
authors.forename: Giuseppe
authors.initials: G
authors.lastname: Damante
authors.forename: Giovanni
authors.initials: G
authors.lastname: Cuda
authors.forename: Francesco
authors.initials: F
authors.lastname: Costanzo
authors.forename: Salvatore
authors.initials: S
authors.lastname: Venuta
mesh_terms: D000328:Adult; D015252:Deoxyribonucleases, Type II Site-Specific / Q000378:metabolism; D005185:Fallopian Tube Neoplasms / Q000235:genetics* / Q000473:pathology; D005260:Female; D024522:Genes, BRCA2; D020022:Genetic Predisposition to Disease; D018095:Germ-Line Mutation; D006801:Humans; D016133:Polymerase Chain Reaction; D018807:Polymorphism, Single-Stranded Conformational; D011379:Prognosis
chemical_list: C027908:endodeoxyribonuclease DdeI; D015252:Deoxyribonucleases, Type II Site-Specific