BRCA1 and BRCA2 mutations in breast/ovarian cancer patients from central Italy
Open Access
- 14 July 2003
- journal article
- mutation in-brief
- Published by Hindawi Limited in Human Mutation
- Vol. 22 (2) , 178-179
- https://doi.org/10.1002/humu.9164
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.Keywords
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