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  • Title: BRCA1 and BRCA2 mutations in breast/ovarian cancer patients from central Italy.
    Author: Stuppia L, Di Fulvio P, Aceto G, Pintor S, Veschi S, Gatta V, Colosimo A, Cianchetti E, Cama A, Mariani-Costantini R, Battista P, Palka G.
    Journal: Hum Mutat; 2003 Aug; 22(2):178-9. PubMed ID: 12872265.
    Abstract:
    We report on the screening of the entire BRCA1/BRCA2 coding sequence by SSCP, PTT, and direct sequencing in 68 Italian families with recurrent breast or ovarian cancer. For each investigated proband, the probability of being carrier of a BRCA1/BRCA2 mutation was evaluated using the BRCAPRO software. We detected BRCA1/BRCA2 mutations in 8 patients (11.7%). However, if considering only patients with a carrier probability >10%, the detection rate was 36.8%, confirming the usefulness of the BRCAPRO software. One change (BRCA1 4172insT) was a novel mutation not reported in BIC database.
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