Author/Authors :
Baudi، نويسنده , , Francesco and De Paola، نويسنده , , Loredana and Quaresima، نويسنده , , Barbara and Faniello، نويسنده , , Maria Concetta and Fersini، نويسنده , , Giuseppina and Gasparro، نويسنده , , Simona and Fabiani، نويسنده , , Giuliano and Driul، نويسنده , , Lorenza and DʹElia، نويسنده , , Angela and Casarsa، نويسنده , , Sara and Marchesoni، نويسنده , , Diego and Damante، نويسنده , , Giuseppe and Cuda، نويسنده , , Giovanni and Costanzo، نويسنده , , Francesco and Venuta، نويسنده , , Salvatore، نويسنده ,
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.
ort 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.
ndings 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.
