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BRCA1 and BRCA2 mutations in breast/ovarian cancer patients from central Italy
L Stuppia1, P Di Fulvio, G Aceto
1Dipartimenti di Scienze Biomediche, Università "G. D'Annunzio", Chieti, Italy.
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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