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.

BRCA1 and BRCA2 mutations in breast/ovarian cancer patients from central Italy

STUPPIA, Liborio;DI FULVIO, PATRIZIA;ACETO, Gitana;VESCHI, SERENA;GATTA, Valentina;CIANCHETTI, Ettore;CAMA, Alessandro;MARIANI COSTANTINI, Renato;BATTISTA, Pasquale;PALKA, Giandomenico
2003-01-01

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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Utilizza questo identificativo per citare o creare un link a questo documento: https://hdl.handle.net/11564/131605
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