A novel Q3034R BRCA2 germline mutation identified in a fallopian tube cancer patient.
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.
Baudi
Francesco
F
Dipartimento di Medicina Sperimentale e Clinica G Salvatore, Università degli Studi Magna Graecia di Catanzaro, Via T Campanella 115, 88100 Catanzaro, Italy.
De Paola
Loredana
L
Quaresima
Barbara
B
Faniello
Maria Concetta
MC
Fersini
Giuseppina
G
Gasparro
Simona
S
Fabiani
Giuliano
G
Driul
Lorenza
L
D'Elia
Angela
A
Casarsa
Sara
S
Marchesoni
Diego
D
Damante
Giuseppe
G
Cuda
Giovanni
G
Costanzo
Francesco
F
Venuta
Salvatore
S
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
C027908:endodeoxyribonuclease DdeI; D015252:Deoxyribonucleases, Type II Site-Specific