Article
A novel Q3034R BRCA2 germline mutation identified in a fallopian tube cancer patient.
Cancer letters - 10 Mar 2003
Baudi Francesco, De Paola Loredana, Quaresima Barbara, Faniello Maria Concetta, Fersini Giuseppina, Gasparro Simona, Fabiani Giuliano, Driul Lorenza, D'Elia Angela, Casarsa Sara, Marchesoni Diego, Damante Giuseppe, Cuda Giovanni, Costanzo Francesco, Venuta Salvatore
Abstract excerpt
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...
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